Assessment of Cardiomyopathy

Assessment of
cardiomyopathy
Straight to the point of care
Last updated: May 22, 2020

Table of Contents
Overview 3
Summary 3
Theory 6
Aetiology 6
Emergencies 17
Urgent considerations 17
Diagnosis 19
Approach 19
Differentials overview 22
Differentials 24
Guidelines 53
Online resources 56
References 57
Images 67
Disclaimer 73
Assessment of cardiomyopathy Overview
Summary
The cardiomyopathies are an important, heterogeneous group of heart muscle diseases that make a
significant contribution to morbidity and mortality.[1] They are associated with mechanical and/or electrical
OVERVIEW
dysfunction. Inappropriate ventricular hypertrophy or dilatation is usually present.[1] Cardiomyopathy
involvement may be predominantly limited to the heart (primary cardiomyopathy) or form part of a
generalised systemic disorder (secondary cardiomyopathy). Causes vary widely, but genetic aetiologies are
most common in primary cardiomyopathies. Complications include cardiovascular death and progressive
heart failure, with its associated disability.[1]
Classifications
In 1995, the World Health Organization/International Society and Federation of Cardiology Task Force
classified cardiomyopathies as primary myocardial disorders, whereas heart muscle diseases of known
aetiology or associated with systemic diseases were categorised as secondary or specific heart muscle
diseases.[2] However, as research has improved the understanding of these conditions, working groups on
both sides of the Atlantic have proposed new but different classification systems.
The European Society of Cardiology Working Group on Myocardial and Pericardial Diseases has opted to
use a clinical rather than genetic classification, where heart muscle disorders are classified according to
morphology and function: 'a myocardial disorder in which the heart muscle is structurally and functionally
abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart
disease sufficient to cause the observed myocardial abnormality'.[3] Its members felt that many primary
cardiomyopathies have significant extra-cardiac manifestations and that many secondary cardiomyopathies
may involve the heart as the major manifestation.
This PDF of the BMJ Best Practice topic is based on the web version that was last updated: May 22, 2020.
BMJ Best Practice topics are regularly updated and the most recent version
3
of the topics can be found on bestpractice.bmj.com . Use of this content is
subject to our disclaimer. © BMJ Publishing Group Ltd 2020. All rights reserved.
OVERVIEW Assessment of cardiomyopathy Overview
Diseases that may cause cardiomyopathy

Elliott P, Andersson B, Arbustini E, et al. Classification of the cardiomyopathies: a position
statement from the European Society of Cardiology Working Group on Myocardial
and Pericardial Diseases. Eur Heart J. 2008;29:270-276. Used with permission.
The scientific statement from the American Heart Association has defined cardiomyopathies as 'a
heterogeneous group of diseases of the myocardium associated with mechanical and/or electrical
dysfunction that usually (but not invariably) exhibit inappropriate ventricular hypertrophy or dilatation and are
due to a variety of causes that frequently are genetic. Cardiomyopathies either are confined to the heart or
are part of generalised systemic disorders, often leading to cardiovascular death or progressive heart failure-
related disability'.[1]
• Primary cardiomyopathies are those where the condition is predominantly confined to the heart muscle
and where subclassifications of genetic, mixed, and acquired are adopted.
• Secondary cardiomyopathies are those where myocardial involvement occurs as part of a systemic or
multi-organ disorder.
It is important to recognise that the traditional classification into hypertrophic, dilated, and restrictive
cardiomyopathies mixes anatomical with functional designations, which are not mutually exclusive.
4 This PDF of the BMJ Best Practice topic is based on the web version that was last updated: May 22, 2020.
Assessment of cardiomyopathy Overview
OVERVIEW
Proposed classification system
Elliott P, Andersson B, Arbustini E, et al. Classification of the cardiomyopathies: a position
statement from the European Society of Cardiology Working Group on Myocardial
and Pericardial Diseases. Eur Heart J. 2008;29:270-276. Used with permission.
The American Heart Association published a separate scientific statement in 2019, covering the classification
and diagnosis of cardiomyopathy in children.[4] This favours a classification for paediatric cases based
primarily on the structural and functional phenotype (which forms the basis for diagnosis and management),
with genetic and nongenetic causes as lower-level subcategories.
5
Assessment of cardiomyopathy Theory
Aetiology
Cardiomyopathies can be subdivided according to the classification developed by the American Heart
Association Working Group.[1]
THEORY
Primary cardiomyopathies: genetic

Hypertrophic cardiomyopathy
Apical hypertrophic cardiomyopathy: 4-chamber echocardiographic view with contrast

Ahmed I, Smalley SJ, Zhu DWX, et al. Sudden cardiac arrest in apical hypertrophic
cardiomyopathy. BMJ Case Reports. 2009;doi:10.1136/bcr.04.2009.17
• A relatively common condition affecting about 1 in 500 of the general population, across racial
groups.[5] Hypertrophic cardiomyopathy (HCM) is characterised by the development of a
hypertrophied, non-dilated left ventricle (LV) in the absence of another predisposing condition (such
as aortic stenosis or hypertension). The development of the hypertrophy is characteristically age-
related. While early work had suggested that individuals generally developed hypertrophy during
adolescence, there is increasing recognition of the development of late-onset disease. In light of this,
clinically unaffected adolescent and adult family members should be offered screening in accordance
with current guidelines.[6] [7] European Society of Cardiology (ESC) guidelines provide healthcare
professionals with a practical diagnostic and treatment framework for patients of all ages.[7] The
guideline also considers the implications of a diagnosis for families.
• The hypertrophy is often asymmetrical, but it is important to recognise that the hypertrophy can affect
any part of the myocardium. Diastolic dysfunction is often present. Up to one-third of patients have
resting left ventricular outflow obstruction, while others may have exercise or other haemodynamic
strain-induced outflow gradients.
• Atrial arrhythmias are common, and affected individuals have a high risk of thromboembolism. Up
to 10% of individuals will develop end-stage systolic dysfunction, often in the absence of significant
THEORY
dilatation.
• The diagnosis is usually made using a combination of ECG and cardiac imaging, most commonly
echocardiography.[8] Additional investigations (ambulatory monitoring, exercise stress test) might be
appropriate for risk stratification of patients with HCM.[9] These investigations are particularly relevant
in individuals with any of the following risk factors: previous cardiac arrest or sustained ventricular
tachycardia, non-sustained ventricular tachycardia, extreme left ventricular hypertrophy (>30 mm),
unexplained syncope, abnormal blood pressure response to exercise, family history of sudden death,
and significant left ventricular outflow tract obstruction.[10] [11] [12] [13]
• Cardiac magnetic resonance imaging (MRI) is increasingly being used, as it provides accurate
estimation of the extent of hypertrophy, and myocardial fibrosis can be detected as late gadolinium
enhancement.[14] Studies have shown that the extent of late gadolinium enhancement is suggestive of
an increased risk of sudden cardiac death but is not an independent predictor of this. Late gadolinium
enhancement is associated with an increased incidence of non-sustained ventricular tachycardia.[15]
US investigators have observed that the presence of late gadolinium may allow for better selection of
individuals requiring primary preventative defibrillators.[16] An ESC risk prediction model, known as
HCM Risk-SCD, has been developed and validated to provide an individualised estimate of 5-year risk
of sudden cardiac death,[17] [ESC: HCM Risk-SCD] (http://doc2do.com/hcm/webHCM.html) but this
does not include late gadolinium enhancement on cardiac MRI scan.
• Coronary angiography may need to be undertaken to exclude concomitant coronary artery disease
in patients over 40 years of age or who have other coronary risk factors, in particular if they present
with typical symptoms of angina or dyspnoea. While myocardial disarray is the pathological hallmark of
HCM, endomyocardial biopsy is rarely used as myocardial disarray is often patchy and a small amount
of disarray may be found in normal individuals.
• The role of genetic testing is beyond the scope of this topic but, traditionally, HCM has been reported
to be a sarcomeric disease with mutations reported in genes encoding many sarcomeric proteins,
including: beta-myosin heavy chain, myosin binding protein C, troponin T, troponin I, and actin. Other
non-sarcomeric genes include PRKAG2 (often associated with pre-excitation) and rarely LAMP-2
(Danon disease).[18] It is important to recognise that there are many other conditions that may present
with an HCM phenotype. Such conditions include a range of syndromic conditions such as Fabry's
disease (particularly in males presenting over the age of 35 years with concentric hypertrophy),[19]
Noonan/Leopard syndromes,[20] and Friedreich's ataxia,[21] as well as various other metabolic
disorders, mitochondrial diseases, and glycogen storage diseases. Diagnosis of these conditions
requires a high index of clinical suspicion and the use of appropriate diagnostic tools.[22] An important
differential diagnosis in young healthy individuals is 'athlete's heart'. Various factors may be used to
distinguish HCM from athlete's heart; these include: extent of hypertrophy, LV cavity size, extent of left
atrial enlargement, presence of LV outflow tract obstruction, changes in tissue Doppler parameters,
peak VO2 consumption, levels of N-terminal-pro brain natriuretic peptide (NT-proBNP), regression on
cessation of exercise, and genetic testing.[23]
Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D)
• Characterised by progressive replacement of myocardium with fibro-fatty material. These changes are
found most commonly in the triangle of dysplasia (right ventricular inflow, outflow, and apex) but are
7
increasingly recognised in the LV. These include clinical variants in which the degree of left ventricular
involvement is equal to or greater than the severity of right ventricular involvement, termed biventricular
or left-dominant arrhythmogenic cardiomyopathy, respectively. [24]
• ARVC/D represents a wide spectrum of disease, involving both electrophysiological and functional
THEORY
abnormalities. Electrophysiological manifestations range from the most modest of ECG abnormalities
to life-threatening ventricular arrhythmias. Similarly, abnormalities of muscle function range from minor
contractile changes to severe right and left ventricular failure.[25] Patients present with a wide variety
of symptoms ranging from arrhythmias to heart failure to sudden death. In the Veneto region of Italy,
ARVC/D is the most common cause of sudden cardiac death in young individuals.[26]
• Diagnosis of ARVC/D is difficult and requires use of multiple investigations, including: imaging
with echocardiography/MRI/angiography, ambulatory monitoring and exercise stress to look for
arrhythmias, presence of abnormal resting ECG (T wave abnormalities, delayed conduction in the
right-sided leads, epsilon waves), late potential on signal-averaged ECG, and histopathological
changes seen on endomyocardial biopsy or at postmortem.
• Autosomal dominant inheritance is the most common pattern, although autosomal recessive variants
(often with hair and skin changes such as in Naxos disease and Carvajal syndrome) are also seen.
Various genes have been implicated - most commonly, desmosomal genes, although there have also
been reports of mutations in the RYR2 and TGF-beta genes.[27]
• The Task Force criteria for the diagnosis of ARVC/D were published in 1994.[28] However, these
criteria have been reported to be too restrictive when dealing with additional family members, so
modified criteria have been proposed for these individuals.[29] More recently, further modifications of
the criteria have been proposed, which include MRI assessment of cardiac structure and give more
quantifiable measurements of right ventricular (RV) size and function that are associated with ARVC/
D.[30] There is limited information on the natural history of the disease, although four stages are
generally recognised.[31]
• Concealed: early, generally asymptomatic phase, although it may present as sudden death.
• Overt electrical disorder: unstable phase with symptomatic arrhythmias, generally left bundle
branch block, and suggestive of RV origin.
• RV failure: phase of progressive deterioration in RV contractile function.
• Biventricular pump failure: phase of progressive biventricular dilatation, which may mimic that
seen in idiopathic dilated cardiomyopathy.
Left ventricular non-compaction
• This condition is characterised by the presence of spongy myocardium, thought to be due to an arrest
in normal embryogenesis (compaction starts from weeks 5 to 8 and is more pronounced in the left
than right ventricle). Left ventricular non-compaction predominantly involvesthe apical portion of the
LV chamber (biventricular involvement has been described but is uncommon). It may occur as an
isolated condition or in association with other congenital heart anomalies (e.g., ventricular septal
defect, Ebstein anomaly, bicuspid aortic valve, alpha-dystrobrevin/NKX2.5 gene mutations). The
overall prevalence has been estimated as somewhere between 0.05% to 0.24% of the population.
[32]In most series males are more commonly affected than females.[33]
• The diagnosis is usually established on cardiac imaging using echocardiography, cardiac MRI, or LV
angiography. In some patients LV dilatation and systolic dysfunction may develop. Patients may also
develop dysrhythmias including sudden death, and they have an increased risk of thromboembolism,
in part relating to thrombi development in the areas of non-compaction. Various patterns of inheritance
have been implicated, and commonly reported genes include tafazzin (X-linked), ZASP, mitochondrial
genes, and other sarcomeric genes.[34] Family members should be offered screening tests.[35]
THEORY
Two echocardiographic criteria (Chin et al and Jenni et al) for diagnosing left ventricular non-compaction
(LVNC): A. Parasternal short-axis view demonstrating the crescentic shape of the right ventricular cavity
and the area of non-compacted myocardium in the left ventricular apex. B. Chin criteria. To quantify the
depth of penetration of the intertrabecular recesses Chin et al proposed an X-to-Y ratio, where X represents
the distance between the epicardial surface to the trough of the trabecular recesses and Y the distance
between the epicardial surface and the peak of trabeculation. LVNC using these criteria is defined by a
ratio of X/Y ≤ 0.5. C. Jenni criteria. Describes the left ventricular wall as being made up of 2 layers, namely
an outer compacted layer C, contiguous with the epicardium, and an inner non-compacted layer N. The
end-systolic thickness of the non-compacted and compacted layer is taken at the area of maximal left
ventricular wall thickness in the parasternal short-axis view. A ratio of NC/C >2 is suggestive of LVNC
Adapted from Captur G, Nihoyannopoulos P. Left ventricular non-compaction: genetic heterogeneity,
diagnosis and clinical course. Int J Cardiol. 2010;140:145-153. Used with permission.
Ion channelopathies
• Includes long QT syndrome (autosomal dominant or recessive inheritance), Brugada syndrome,

catecholaminergic polymorphic ventricular tachycardia (autosomal dominant or recessive forms),
9
short QT syndrome (autosomal dominant inheritance), idiopathic ventricular fibrillation, and sick sinus
syndrome (autosomal dominant inheritance). It is important to note that the Working Group of the
European Society of Cardiology does not agree with the inclusion of these channelopathies as part of
the spectrum of cardiomyopathies.[3]
THEORY
Other primary genetic cardiomyopathies include conduction system disease and mitochondrial myopathies.
Primary cardiomyopathies: mixed

Dilated cardiomyopathy
Dilated cardiomyopathy: echocardiogram

Tanejal AK, Wong J, Bayliss J. Antipsychotic-drug-induced dilated
cardiomyopathy. BMJ Case Reports. 2009; doi:10.1136/bcr.09.2008.0958
• Characterised by the presence of left ventricular dilatation and systolic dysfunction in the absence of
abnormal loading conditions or significant coronary artery disease. Right ventricular dilatation is often
also present. The prevalence of dilated cardiomyopathy is approximately 1 in 250.[36] It is estimated
that 25% to 35% of cases are familial; autosomal dominant, autosomal recessive, X-linked, and
mitochondrial inheritance patterns have been reported.[37] Familial disease should also be suspected
when there is a family history of sudden death, conduction system disease, or an associated skeletal
myopathy. Genetic testing of these patients is advised because certain mutations (eg, in the LMNA
gene) may indicate a higher risk.[36]
• The European Society of Cardiology (ESC) has proposed a revised definition that separates
dilated cardiomyopathy into two forms according to imaging parameters: dilated cardiomyopathy
and hypokinetic non-dilated cardiomyopathy.[38] The ESC has also suggested a definition for
familial disease and proposed care pathways for proband and family member clinical and genetic
investigation. In 2016, the American Heart Association summarised current understanding of dilated
cardiomyopathies and made recommendations for appropriate management of dilated cardiomyopathy
according to specific aetiology.[39]
• Several of the sarcomeric genes that have been implicated in the development of hypertrophic
cardiomyopathy may also lead to a dilated cardiomyopathy phenotype.[40] Mutations in the lamin A/C
gene may result in a wide variety of different phenotypes, but from a cardiac perspective, diagnosis of
a laminopathy is important as affected individuals have a high risk of progressive conduction system
THEORY
disease and sudden death.[41] An extensive list of conditions that may lead to dilated cardiomyopathy
has been recognised. One well-known cause is post-myocarditis, which is often asymptomatic from
a patient's perspective. Other causes include: alcohol; chemotherapeutic agents (anthracyclines,
trastuzumab); storage diseases (e.g., haemochromatosis); autoimmune and systemic disorders;
neuromuscular disorders; mitochondrial, metabolic/endocrine (thyroid, diabetes,[42] acromegaly,
phaeochromocytoma), and nutritional disorders (in particular, thiamine, selenium, and protein
malnutrition problems). If no cause is identified, despite extensive investigation, the term idiopathic
dilated cardiomyopathy is applied.
• Ischaemic cardiomyopathy, a common consequence of myocardial ischaemia leading to cardiac
dysfunction, is excluded from the new classification outlined in the American Heart Association
scientific statement.[1]
Restrictive cardiomyopathy
• A less well-defined cardiomyopathy as its diagnosis is based on establishing the presence of a

restrictive ventricular filling pattern. The European Society of Cardiology Working Group defines
it as: 'restrictive physiology in the presence of normal or reduced diastolic volumes, normal or
reduced systolic volumes and normal wall thickness'.[3] In many ways, it is a description of the
pathophysiological state, which may represent various pathologies or cardiomyopathies rather than a
distinct cardiomyopathy.
• It may be idiopathic, familial (has been related to troponin I or desmin mutations, the latter often
in association with a skeletal myopathy), or associated with various systemic disorders, such as
haemochromatosis, amyloidosis, sarcoidosis, Fabry's disease, carcinoid syndrome, scleroderma,
anthracycline toxicity, or previous radiation. In the paediatric population some rare metabolic
syndromes (Gaucher's disease or Hurler's syndrome) must be excluded.
• Endocardial pathology (hypereosinophilic syndromes or endomyocardial fibrosis) may also result in
a restrictive cardiomyopathy.[43] Patients may present with symptoms of dyspnoea or palpitations,
and these relate to diastolic dysfunction. There is usually an elevated jugular venous pressure. The
ECG is typically abnormal with evidence of bi-atrial hypertrophy and non-specific ST-T wave changes.
Cardiac imaging by echocardiography or MRI shows bi-atrial enlargement with evidence of diastolic
dysfunction, evident on mitral inflow Doppler patterns as well as tissue Doppler signals.
• As it may present in a similar manner to constrictive pericarditis, restrictive cardiomyopathy must be
distinguished from that condition, and this may require cardiac catheterisation. Endomyocardial biopsy
may be helpful in selected cases.[44] Diuretics are used for symptomatic control but caution is required
as they may reduce preload and thus be counterproductive. Patients may have complex arrhythmias,
including atrial fibrillation, and implantable cardioverter-defibrillators (ICDs) may be needed for the
management of ventricular tachyarrhythmias.
Primary cardiomyopathies: acquired

Inflammatory myocarditis
• An acquired acute or chronic inflammatory condition affecting the myocardium, which can result
from a large number of causes, including infectious agents, toxins, and drugs. Three phases are
11
recognised: active, healing, and healed stages. The standard Dallas pathological criteria require
that an inflammatory infiltrate with or without myocyte necrosis is present on standard histological
assessment.[45] However, newer criteria have been developed that are based on cell-specific
immunoperoxidase stains for specific antigens.
THEORY
• There are significant risks associated with endomyocardial biopsy, and this has led to
recommendations based on the likelihood of finding specific diseases.[46] Two scenarios that
describe the most common presentations of fulminant myocarditis and giant-cell myocarditis are: 1)
unexplained new-onset heart failure <2 weeks duration in association with a normal size or dilated
LV and haemodynamic compromise; and 2) unexplained new-onset heart failure of 2 weeks to 3
months duration in association with a dilated LV and evidence of ventricular arrhythmias or high-
degree atrioventricular block or a failure to respond to usual care within 1 to 2 weeks. Cardiac MRI
may provide an alternative diagnostic tool as studies have shown a good correlation between active
regions of myocarditis and areas of abnormal signal intensity on MRI.
Stress provoked (tako-tsubo)
• A condition that is manifest by symptoms and signs of acute myocardial infarction in the absence of
significant coronary artery disease or spasm. (The condition derives its name from the fact that the
heart takes on the appearance of a Japanese octopus fishing pot.)[47] Some authors refer to the
condition as 'transient apical ballooning and stress cardiomyopathy'.
THEORY
Left ventriculogram demonstrating apical ballooning in tako-tsubo cardiomyopathy
Augustine DX, Domanski A, Garg A. The stress of chest pain: a case of tako-
tsubo cardiomyopathy. BMJ Case Reports. 2009; doi:10.1136/bcr.03.2009.1660
• Patients present with chest pain associated with ST elevation, T wave inversion, and mild elevations
in cardiac markers. It is most commonly seen in postmenopausal women, and is usually preceded
by some form of significant emotional or physical stress.[48] During the acute event, transient
elevations in noradrenaline (norepinephrine) levels have been recorded (in the absence of a
phaeochromocytoma). If the patient survives the acute event, left ventricular function usually
normalises over a period of several weeks.
• Various groups have proposed diagnostic criteria. The most widely used are those from a group
working at the Mayo Clinic (diagnostic criteria initially reported in 2004 and then modified in 2008):[47]
• Transient hypokinesis, akinesis or dyskinesis of the left ventricular midsegments with or without
apical involvement; the regional wall abnormalities extend beyond a single epicardial vascular
distribution; a stressful trigger is often but not always present
• Absence of obstructive coronary disease or angiographic evidence of acute plaque rupture
13
• New ECG abnormalities (ST elevation and/or T wave inversion) or modest elevation in cardiac
troponin
• Absence of phaeochromocytoma/myocarditis.
Peripartum
THEORY
• Peripartum cardiomyopathy (PPCM), as defined by The Working Group on PPCM of the European
Society of Cardiology, is an idiopathic cardiomyopathy frequently presenting with heart failure
secondary to LV systolic dysfunction (LVEF <45%), towards the end of pregnancy or in the months
following delivery, where no other cause of heart failure is found.[49] [50] It is uncommon, occurring in
approximately 1 in 4000 births.[51] Reports suggest it is more common in women over the age of 30
and there is an association with gestational hypertension, and twin pregnancy. PPCM appears to be
much more common in women of African-American descent with a low incidence in Hispanic women.
Some patients present in early pregnancy, and have been classified as having early pregnancy-
associated cardiomyopathy.[52]
• Several mechanisms (such as myocarditis, immunological, and haemodynamic causes) have been
proposed. The condition may be associated with complete recovery in up to 50% of cases, while in
others it may progress to severe heart failure resulting in cardiac transplantation or death. It appears
to carry significant morbidity.[53]Oxidative stress and the generation of a cardiotoxic subfragment of
prolactin may play key roles in the pathophysiology of PPCM. As such, pharmacological blockade of
prolactin offers the possibility of a disease-specific therapy.[49]
Tachycardia-induced
• In certain individuals, prolonged periods of fast heart rate associated with atrial tachycardia, atrial
fibrillation, or ventricular arrhythmias may lead to a tachycardia-related cardiomyopathy.[54] This is an
important condition to recognise as the cardiomyopathy may be reversible when rate control has been
achieved.[55]
Secondary causes of cardiomyopathy

Secondary cardiomyopathies demonstrate myocardial involvement in the context of generalised, systemic
(multi-organ) disorders. These were previously referred to as specific cardiomyopathies under the WHO
revised classification in 1995. The WHO statement acknowledges that in practice some of the distinctions
may be blurred and rely on 'individual judgement about the clinical importance and consequences of the
myocardial process'.[1]
Infiltrative or storage diseases often result in cardiomyopathy, and causes include the following.
• Amyloidosis (hypertrophic or restrictive): characterised by the deposition of amyloid fibrils in the

heart and includes a wide spectrum of disease, including primary amyloidosis, familial amyloid
polyneuropathy, and senile cardiac amyloidosis.[56] Characteristically, patients present with symptoms
and signs of heart failure or rhythm disturbances.[57] The diagnosis may be suspected when patients
have had an ECG or echocardiogram undertaken as part of an initial cardiac workup. The ECG
is characterised by the presence of small voltages, a pseudo-infarction pattern in the anterior or
inferior leads, and ventricular and supraventricular arrhythmias. The echocardiogram is notable for
increased thickening of the atrial septum increased and left ventricular wall; increased myocardial
echogenicity (speckled), associated with some valve thickening; and often a small pericardial
effusion. One of the hallmarks of the condition is the inverse relationship between LV mass on cardiac
imaging and ECG voltage. Increasingly, cardiac MRI is used as a diagnostic tool; there is a diffuse
decrease in the T1 and T2 signal of the myocardium, corresponding with amyloid infiltration, and
a characteristic appearance of global sub-endocardial late gadolinium enhancement. Biopsy of an
affected tissue is often used for histological confirmation. Chemotherapy, stem cell transplant, and
THEORY
cardiac transplantation have all been used but with variable results. Digoxin should be avoided as it
binds to amyloid and results in unpredictable pharmacokinetics.
• Gaucher's disease (restrictive).
• Mucopolysaccharidoses (Hunter's syndrome and Hurler's disease; mainly dilated cardiomyopathy).[58]
• Haemochromatosis (dilated or restrictive cardiomyopathy): classical haemochromatosis is an

autosomal recessive disease associated with a mutation of the HFE gene, which leads to iron
overload. It is a multisystem disorder, in which cardiac involvement is manifest by the development of a
dilated cardiomyopathy leading to heart failure and conduction system disorder.[59] Treatment with iron
depletion may reverse early changes. Cardiac involvement and detection of iron is easily achieved by
cardiac MRI.
• Fabry's disease (hypertrophic or restrictive cardiomyopathy).
• Pompe's disease (glycogen storage disease type 2; hypertrophic cardiomyopathy).
• Niemann-Pick's disease (hypertrophic cardiomyopathy).
• Iron overload states, including thalassaemia.
Several toxins are associated with the development of cardiomyopathy.
• There is a strong correlation between doxorubicin and the development of cardiomyopathy.[60]

Cardiomyopathy may also occur as a result of trastuzumab therapy.[61]
• Chronic alcohol consumption may damage myocardial tissue directly by inducing apoptosis, or may
be associated with thiamine deficiency and the development of wet beriberi (although the exact
mechanism is not known).[62]
• Cobalt added to beer and exposure to certain chemicals such as heavy metals may also cause
myocardial damage.[63]
Endocrine disorders are known to be associated with cardiomyopathy, although evidence is limited to case
reports, and the resulting cardiomyopathy can be dilated or restrictive.
• Diabetes mellitus may cause an infiltrative/restrictive cardiomyopathy due to glycosylation of the

myocardium and subsequent diastolic dysfunction.[64] It is important to exclude associated coronary
heart disease in patients with diabetes mellitus who present with a suspected cardiomyopathy.
• Cardiomyopathy can also be caused by hyperthyroidism/hypothyroidism, hyperparathyroidism,
phaeochromocytoma and acromegaly.
Cardiomyopathies are a recognised feature of certain cardiofacial syndromes.
• Noonan syndrome.
• Lentiginosis.[20]
Nutritional deficiencies of various vitamins and minerals have been associated with the development of
cardiomyopathy.
• Thiamine deficiency causes high-output heart failure known as wet beriberi. Many pathophysiological
mechanisms have been proposed, but it is thought that initial mitochondrial injury may subsequently
lead to cardiomyopathy.[65]
15
• Other nutritional deficiencies involving vitamin C, niacin, selenium, and vitamin D may also cause
cardiomyopathy.
Other causes
THEORY
• Neuromuscular and neurological disorders such as Friedreich's ataxia, muscular dystrophies

(Duchenne, Becker, and Emery-Dreifuss muscular dystrophy; myotonic dystrophy) can present with
cardiac involvement.
• Autoimmune disorders such as systemic lupus erythematosus.
• Sarcoidosis is a systemic granulomatous disorder of unknown cause. Overt cardiac involvement is
uncommon, and patients may present with heart failure (due to development of cardiomyopathy),
bradyarrhythmias/high grade artioventricular block, or ventricular tachyarrhythmias leading to
sudden death.[66] Subclinical myocardial involvement is common, and cardiac involvement is
often only identified only at autopsy. Granulomatous involvement is often patchy and the yield from
endomyocardial biopsy relatively low. Various diagnostic criteria have been developed.[59] Patients
with cardiac sarcoidosis and symptoms of syncope should have aggressive investigation and be
considered for device-based therapy, including ICD. Cardiac MRI is increasingly being used as a
useful imaging technique. Referral to other specialists may be necessary for immunosuppressive
treatment of the underlying condition.
• Electrolyte imbalance: commonly potassium, phosphate, or magnesium.
• Endomyocardial fibrosis.
• Loeffler's endocarditis/hypereosinophilic syndrome.
Assessment of cardiomyopathy Emergencies
Urgent considerations
(See Differentials for more details)
Cardiac ischaemia
The presentation of new-onset heart failure with dyspnoea and chest pain should alert the physician to
ischaemia as a possible cause. Investigations include an ECG, and measurement of cardiac markers (e.g.
troponins, and creatine kinase myocardial band [CK-MB]).
Treatment should address immediate coronary reperfusion with either thrombolytic therapy or primary
percutaneous coronary intervention to restore coronary blood flow. In addition, the implantation of an intra-
aortic balloon may be warranted for immediate stabilisation. Heart failure is a common consequence of
myocardial ischaemia, and requires emergency evaluation and intervention; however, it is important to note
that the term 'ischaemic cardiomyopathy' is no longer recommended by the authors of the American Heart
Association scientific statement.[1]
EMERGENCIES
Hypertrophic cardiomyopathy
Initial presentation may be with syncope or sudden cardiac death, thus highlighting the importance of early
diagnosis and screening of first-degree relatives. Physical examination may reveal an outflow murmur
similar to aortic stenosis, which may be differentiated by Valsalva, handgrip, and squatting manoeuvers.
Treatment involves avoidance of diuresis, which is in contrast to the management of other cardiomyopathies.
In addition, beta-blockers and/or calcium channel blockers are indicated and strenuous exercise prohibited
(aimed at preventing sudden death). Anti-arrhythmic agents and devices may be required in patients with
serious cardiac arrhythmias or multiple risk factors for sudden death.
Sudden death in young individuals (<40 years)

Sudden cardiac death is of major public health importance.[67] However, most of these sudden deaths occur
in older individuals and are secondary to coronary heart disease. The sudden, unexpected cardiac death
of a young individual has profound effects not only for the family and friends but also for society in general.
Accurate figures are not available but it has been estimated that the incidence of sudden death in young
individuals is about 1 in 100,000 per year.[68] [69]
Common causes of sudden cardiac death include various types of cardiomyopathies and channelopathies,
as well as atherosclerotic coronary artery disease, aortic dissection, and anomalous coronary arteries.
Inherited cardiomyopathies are a significant cause of sudden cardiac death across all age groups. Individuals
with inherited cardiomyopathies are frequently asymptomatic and may only be diagnosed incidentally or
following family screening.[36]
In up to 31% of cases of sudden cardiac death, no structural abnormality can be detected at postmortem.[70]
In many cases a definitive diagnosis is not established at postmortem, despite there being a clear hereditary
basis. Although it may be diagnostically challenging, it is very important to try to establish an accurate cause
of death. Therefore, clinical investigation, and where indicated, genetic testing, of surviving family members
is warranted.[36]
Myocarditis
Two scenarios describe the most common presentations of fulminant myocarditis and giant-cell myocarditis:
[71]
17
Assessment of cardiomyopathy Emergencies
• Unexplained new-onset heart failure <2 weeks duration in association with a normal size or dilated lef
ventricle (LV) and haemodynamic compromise
• Unexplained new-onset heart failure of 2 weeks to 3 months duration in association with a dilated LV
and evidence of ventricular arrhythmias or high-degree atrioventricular block or a failure to respond to
usual care within 1 to 2 weeks.
Cardiac magnetic resonance imaging (MRI) may provide an additional diagnostic tool as studies have shown
a good correlation between active regions of myocarditis and areas of abnormal signal intensity on MRI.
After establishing a diagnosis, patients with myocarditis require treatment of the systolic dysfunction (using
standard heart failure treatments) and associated arrhythmic complications, which include strategies to
manage both brady- and tachyarrhythmias. If the patient develops haemodynamic compromise, insertion
of an intra-aortic balloon pump or use of a ventricular assist device may be required. Discussion with a
cardiac centre that offers mechanical support and/or transplantation should take place at an early stage.
The evidence base for use of specific antiviral therapies and/or immunosuppression is very limited. However,
patients with giant cell myocarditis and eosinophilic myocarditis generally respond to immunosuppression,
and this is one of the major reasons for undertaking endomyocardial biopsy in certain patient subsets. If in
EMERGENCIES
doubt, advice from experts in the management of myocarditis should be sought.[71] [72]
Assessment of cardiomyopathy Diagnosis
Approach
Cardiomyopathy is diagnosed by taking an accurate clinical history, including family history (3-generational
pedigree) and clinical examination, followed by appropriate investigations. Laboratory findings vary
depending on the specific aetiology. A 12 lead ECG and echocardiogram will detect most cardiomyopathies.
Further evaluation may include more complex ECG testing, additional imaging (e.g. chest radiography,
cardiac MRI, cardiac CT), cardiac catheterisation, endomyocardial biopsy, and genetic testing.[36] These
tests are often non-specific, pointing only to the pathophysiological consequences of cardiomyopathy
rather than its specific aetiology. A combination of all these modalities is typically required to determine the
aetiology, as no single available test is usually specific enough to lead to determine the cause.
History
The clinical history is a critical component in the diagnosis of cardiomyopathies. Emphasis should be placed
on risk factors for specific causes. Medical illnesses, family history, and alcohol and drug exposure may
predispose to the development of cardiomyopathies.
History of present illness
• The most common symptoms associated with cardiomyopathy are dyspnoea, chest discomfort,
palpitations, and syncope.
• Patients with concerning cardiac symptoms such as exertional chest pain, syncope, sustained
palpitations, orthopnoea, paroxysmal nocturnal dyspnoea, and those with a family history of
cardiomyopathy or premature cardiac death should be referred for specialist investigation.[36]
Medical history
• History of coronary artery disease (CAD) and subsequent cardiac ischaemia should be excluded.
• History of any causes of secondary cardiomyopathies should be addressed, including infiltrative,
storage, toxic, endomyocardial, inflammatory, endocrine, cardiofacial, and neuromuscular/neurological
DIAGNOSIS
causes; nutritional deficiencies; autoimmune or collagen diseases; electrolyte imbalance; and
exposure to chemotherapeutic agents.[1]
Family history
• Family history of premature cardiac death or arrhythmia may indicate risk of primary cardiomyopathy.
Specific questions may elucidate hereditary causes of secondary cardiomyopathy including infiltrative
diseases (familial autosomal dominant amyloidosis, Gaucher's, Hunter's, Hurler's), storage diseases
(Fabry's, glycogen storage, Niemann-Pick's), Noonan syndrome, lentiginosis, Friedreich's ataxia,
Duchenne/Becker muscular dystrophy, Emery-Dreifuss muscular dystrophy, myotonic dystrophy,
neurofibromatosis, and tuberous sclerosis.[1]
Physical examination
No specific physical examination findings are consistent with a particular cause; the examination is directed
towards seeking signs of cardiac dysfunction. A sustained prominent apical impulse on palpation may
suggest left ventricular hypertrophy. A diffusely palpable cardiac impulse with apical displacement may be
seen with ventricular dilatation. Auscultation of the heart may reveal murmurs, an S4 gallop (heard in types
19
of cardiomyopathy that involve increased left ventricular pressure) or an S3 gallop (heard when there is
increased left ventricular volume).
Auscultation of the lungs may demonstrate crackles, indicating pulmonary congestion. Pedal and leg
oedema, and jugular venous distension, may also be present in certain cardiomyopathies. Specialist referral
is indicated if any of the following features are present: an ejection systolic murmur (in left ventricular outflow
tract obstruction, as seen in hypertrophic cardiomyopathy, this increases in intensity with the Valsalva
manoeuvre and is diminished by squatting); peripheral and/or pulmonary oedema; elevated jugular venous
pressure; an irregular pulse.[36]
Initial tests
An ECG, although commonly non-specific, may show abnormalities that point to an individual aetiology. A
normal ECG has, approximately, a 98% negative predictive value when systolic dysfunction is suspected.[73]
Initial laboratory tests should include baseline blood tests such as FBC, metabolic panel, and thyroid
function in all patients to exclude contributory or exacerbating factors. A B-type natriuretic peptide provides
supporting data in patients with dyspnoea. Patients presenting with chest pain require measurement of
cardiac markers including troponins and creatine kinase myocardial band (CK-MB). In addition, a chest x-ray
is recommended.
Echocardiogram, other imaging, and cardiac catheterisation

Echocardiography is an extremely useful and non-invasive diagnostic tool. An echocardiogram helps to
distinguish the cardiomyopathies with respect to pathophysiology. It can differentiate between hypertrophic,
restrictive, or dilated cardiomyopathies in most cases. It may suggest a diagnosis of arrhythmogenic right
ventricular/dysplasia (ARVC/D) or athlete's heart. The British Society of Echocardiography has outlined
recommendations for assessment and diagnosis of dilated cardiomyopathy by echocardiogram.[74]
Newer available imaging modalities include cardiac magnetic resonance imaging (MRI) and cardiac CT.
Cardiac MRI is a useful method for uncovering the aetiology of cardiomyopathy because it provides excellent
contrast and spatial resolution of the heart. It is also non-invasive, readily available, and not operator-
DIAGNOSIS
dependent. MRI can be used to assess ventricular end-diastolic volumes, presence of intracardiac thrombi,
stroke volume, ejection fraction, and valvular pathology. Cardiac CT is particularly helpful in the assessment
of possible concomitant coronary artery disease.
Cardiac catheterisation may be performed if the results of echocardiography are ambiguous. Ventricular and
atrial pressures are measured, which allow for the calculation of pressure gradients across cardiac valves
and the left ventricular outflow tract. Catheterisation of the heart allows for ventriculography to be performed.
Ejection fraction, ventricular size and wall motion, and left ventricular outflow tract size can be estimated,
and the presence of valvular regurgitation can be evaluated. Additionally, coronary angiography can be
performed to evaluate for coronary arterial disease as a cause of ischaemia.
It is very important to distinguish restrictive cardiomyopathy from constrictive pericarditis, as pericardiectomy

is indicated for constrictive pericarditis. Tests including echocardiography, cardiac MRI, and cardiac
catheterisation are helpful in distinguishing between these two conditions.[75]
Endomyocardial biopsy
In very rare circumstances, an endomyocardial biopsy is needed to help differentiate disease processes
and guide therapy. It may be useful in the diagnosis of certain types of cardiomyopathy (e.g., infiltrative), in
particular where there has been a recent onset of severe heart failure.[46]
Other specialised testing

Testing may be directed towards excluding possible causes of cardiomyopathy.
• Many novel genes are reported to cause cardiomyopathy, and the genetic evaluation of
cardiomyopathy is becoming more feasible because of increasing availability of high-throughput gene
sequencing technologies.[76] Genetic testing may be indicated to identify abnormalities in patients
with conduction system disorders, lysosomal storage diseases, or Noonan syndrome. Mitochondrial
disorders may result from mutations in either mitochondrial DNA or nuclear DNA, and the inheritance
pattern will therefore vary depending on location of the mutation.[77]
• Serologies (e.g., Lyme, HIV, parvovirus) may indicate a cause of myocarditis.
• Liver function tests and a coagulation profile: may indicate dysfunction in alcohol-related
cardiomyopathy or haemochromatosis.
• Electrophysiological studies may be required for conduction system disorders or Brugada syndrome. A
drug provocation test using a sodium channel blocer may unmask ECG findings in these syndromes.
• Exercise tolerance testing, ambulatory monitoring, or signal-averaged ECG may help diagnose ARVC/
D.
• Serum iron studies may indicate systemic iron overload (haemochromatosis) or deficiency (anaemia).
Levels of vitamins or selenium may be low in systemic deficiencies.
• Alpha-galactosidase A levels are low in Fabry's disease. These levels can be normal in affected
females due to the sex-linked inheritance pattern of the disease. Therefore, genetic testing may be
necessary in females if there is clinical suspicion of Fabry’s disease. .
• Endocrinological tests are required for suspected diabetes mellitus (elevated fasting blood sugar and/
or HbA1c); thyroid dysfunction (abnormal thyroid-stimulating hormone and levels of thyroid hormones);
or acromegaly (high insulin-like growth factor-1 and lack of glucose suppression of growth hormone
DIAGNOSIS
levels).
• Serum antinuclear antibodies are usually positive in systemic lupus erythematosus.
• A trial of thiamine is indicated for suspected deficiency (wet beriberi).
• Muscle biopsy may be used for diagnosis of mitochondrial diseases.
• Serum protein electrophoresis (SPEP) or tissue (e.g., rectal) biopsy may be indicated for suspected
amyloidosis.
• Pulmonary function testing, lung or lymph node biopsy (non-caseating granulomas), and measurement
of angiotensin-converting enzyme (high) may support a diagnosis of sarcoid.
21
Differentials overview
Common
Idiopathic dilated cardiomyopathy
Myocarditis
Alcohol: dilated cardiomyopathy
Uncommon
Hypertrophic cardiomyopathy (HCM)
Idiopathic restrictive cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D)
Left ventricular non-compaction
Brugada syndrome and other ion channelopathies
Conduction system disease
Mitochondrial disorders
Stress provoked (tako-tsubo)

DIAGNOSIS
Peripartum: dilated cardiomyopathy
Tachycardia induced: dilated cardiomyopathy
Amyloidosis: hypertrophic or restrictive cardiomyopathy
Haemochromatosis: restrictive or dilated cardiomyopathy
Fabry's disease: hypertrophic or restrictive cardiomyopathy
Other lysosomal storage disease
Doxorubicin: dilated cardiomyopathy
Heavy metals/chemicals: dilated cardiomyopathy
Diabetes mellitus
Uncommon
Thyroid dysfunction: dilated cardiomyopathy
Acromegaly: hypertrophic or dilated cardiomyopathy
Noonan syndrome: hypertrophic cardiomyopathy
Lentiginosis: hypertrophic cardiomyopathy
Thiamine deficiency (wet beriberi): dilated cardiomyopathy
Friedreich's ataxia/muscular dystrophy: hypertrophic and dilated cardiomyopathy
Deficiency of iron, niacin, selenium, or vitamin D: dilated cardiomyopathy
Systemic lupus erythematosus: dilated cardiomyopathy
Endomyocardial fibrosis/Loeffler endocarditis (hypereosinophilic syndrome)
Sarcoidosis
Electrolyte disorders
DIAGNOSIS
23
Differentials
Common
◊ Idiopathic dilated cardiomyopathy
History Exam 1st Test Other tests
symptoms of cardiac signs of cardiac failure »ECG: often non- »cardiac MRI: findings
failure (shortness of (S3 gallop during rapid specific findings; low may suggest an
breath on exertion, ventricular phase of limb lead voltage along alternate cause for the
orthopnoea, fatigue, diastole may indicate with precordial criteria cardiomyopathy
chest pain or pressure, ventricular dilatation; for left ventricular MRI with contrast
paroxysmal nocturnal jugular venous hypertrophy, and a can be used to
dyspnoea, abdominal distension, peripheral wide QRS complex/
discomfort, leg oedema, basal crackles left bundle branch exclude underlying
swelling), family history on lung auscultation, block seen in idiopathic inflammatory or atypical
of cardiomyopathy[40] hepatomegaly) dilated cardiomyopathy; causes of dilated
P wave abnormalities cardiomyopathy.
indicating atrial
enlargement
Ischaemic causes of
A normal ECG has a
dilatation represented
98% negative predictive
by segmental areas
value for left ventricular
of wall thinning and
systolic dysfunction.[73]
hypokinesis.
»CXR: enlarged
cardiac silhouette Infectious causes
Common initial test in represented by
evaluation for heart inflammatory MRI
failure. However, it is changes. Global
not specific for any type myocardial contractile
DIAGNOSIS
of cardiomyopathy. dysfunction more

commonly seen in
»echocardiogram: dilated cardiomyopathy
normal or decreased
wall thickness; poor than with ischaemic
wall thickening in origin of cardiac
systole; left ventricular dysfunction.
dilatation in a spherical
pattern; poor systolic »cardiac
function with diminished catheterisation:
stroke volume and increased
low ejection fraction; ventricular size on
4-chamber cardiac ventriculography; global
enlargement wall motion defect
»FBC: low Hb or »endomyocardial
haematocrit levels in biopsy: myriad
anaemia pathological findings
Anaemia may be may be seen if there is
associated with chronic an alternate cause for
the cardiomyopathy
heart failure or rarely
Common
◊ Idiopathic dilated cardiomyopathy

indicate high-output Used to exclude
heart failure states. underlying causes
such as myocarditis or
»B-type natriuretic
amyloidosis.
peptide: elevated in
heart failure
Readily available test
for heart failure. Not
specific to any type of
cardiomyopathy.
Elevated levels (refer

to local laboratory
values adjusted for
age, renal function)
are consistent with
cardiac dysfunction.
Normal levels have
high negative predictive
value.
Myocarditis
DIAGNOSIS
history of recent or signs related to »ECG: ST-T »serology: may be
known infection, underlying cause, changes, ventricular positive for infective
which may be viral plus signs of cardiac tachyarrhythmias organism (e.g.,
(e.g., coxsackievirus, failure (jugular venous parvovirus, HIV, Lyme)
»echocardiogram:
cytomegalovirus distension, peripheral left ventricular dilatation »cardiac MRI:
[CMV], herpes, oedema, basal crackles and/or segmental wall may show areas
adenovirus, parvovirus, on lung auscultation, motion abnormalities of abnormal signal
HIV), bacterial hepatomegaly) and/or intensity in regions of
(meningococcus, tachyarrhythmias, and/ active myocarditis
psittacosis, or cardiogenic shock
streptococcal), »endomyocardial
rickettsial (typhus, biopsy: may
Rocky Mountain be positive for
spotted fever), fungal CMV, adenovirus,
(e.g., aspergillosis, coxsackievirus,
candidiasis), or parvovirus, or human
parasitic; history of herpes virus
recent drug use (e.g., Diagnostic yield may be
cocaine, sulfonamides, increased by molecular
anticonvulsants);[1]
analysis with DNA-RNA
chest pain, exertional
extraction and PCR
25
Common
Myocarditis

dyspnoea, fatigue, amplification of the viral
syncope, or genome.[1]
palpitations[45]
◊ Alcohol: dilated cardiomyopathy
history of excessive signs of liver disease »ECG: non-specific ST- »liver function tests:
alcohol consumption; (spider naevi, T wave changes, atrial may be elevated,
may be diagnosed as clubbing, jaundice, fibrillation particularly gamma-
idiopathic if alcohol hepatomegaly); signs A normal ECG has a glutamyl transferase
history is not apparent of cardiac failure due 98% negative predictive »serum albumin:
to systolic dysfunction
value for left ventricular low albumin if hepatic
(jugular venous synthetic function
distension, peripheral systolic dysfunction.[73]
impaired
oedema, basal crackles
on lung auscultation, »CXR: enlarged »coagulation profile:
hepatomegaly) cardiac silhouette may be abnormal
Common initial test in if hepatic synthetic
evaluation for heart function impaired
failure. However, it is
not specific for any type
of cardiomyopathy.
»echocardiogram:
normal or decreased
DIAGNOSIS
wall thickness; poor

wall thickening in
systole; left ventricular
dilatation in a
spherical pattern;
diminished stroke
volume on Doppler
echocardiography, with
low ejection fraction;
4-chamber cardiac
enlargement
Uncommon
often presents during systolic ejection »ECG: left ventricular »cardiac MRI: apical
adolescence; sudden murmur, with hypertrophy often or other localised
Uncommon

cardiac death can a crescendo- present; pathological areas of hypertrophy
be presenting sign; decrescendo pattern Q waves and ST- may be more readily
dyspnoea most at the apex and T wave changes seen on cardiac MRI
common symptom; left sternal border; common; P wave than on conventional
lightheadedness, pre- holosystolic murmur abnormalities indicating echocardiography;
syncope or syncope, of mitral regurgitation atrial enlargement functional cardiac
angina, palpitations; may be heard at apex; MRI may be used to
»CXR: enlarged
family history of sudden jugular venous pulse assess left ventricular
cardiac silhouette
cardiac death or with prominent 'a' wave; outflow tract obstruction
diagnosed HCM[7] S4 gallop »echocardiogram: (LVOT), thickness of
hallmark sign is left septum and presence
ventricular hypertrophy; of anterior motion of
there may be evidence mitral valve during
of delayed ventricular systole, as well as
relaxation pattern/ extent of fibrosis
diastolic dysfunction; on late gadolinium
systolic dysfunction enhancement
representing end-stage
»cardiac
disease may develop in
catheterisation:
up to 15% of patients;
LVOT; pull-back
left atrial enlargement;
catheterisation
aortic valve notching
may be used to
Signs to differentiate
assess pressure
hypertrophic gradient between
cardiomyopathy (HCM) apex and aorta;
from aortic stenosis: falsely elevated left
ventricular pressures
1) asymmetric septal
may be seen due to
hypertrophy usually entrapment of the
DIAGNOSIS
seen in primary HCM; catheter during systole;
2) outflow obstruction Brockenbrough-
Braunwald-Morrow sign
present in only 25% of
The Brockenbrough-
patients; 3) increased
Braunwald-Morrow sign
left ventricular wall
is a phenomenon that
thickness ≥15 mm
may be observed in
not associated with
patients with outflow
systemic hypertension;
obstruction secondary
and 4) increased
to hypertrophic
outflow obstruction
cardiomyopathy (HCM),
post-premature
and can be used to
ventricular contraction
differentiate HCM from
(PVC) or Valsalva
aortic stenosis; seen
manoeuvre.[78]
by measuring pre-
and post-premature
ventricular contraction
(PVC) pressure
27
Uncommon

dynamics in the
ascending aorta and
left ventricular outflow
tract (LVOT).
HCM: post-PVC
increased left
Apical hypertrophic
ventricular pressure
cardiomyopathy:
and decreased
4-chamber
ascending aortic
echocardiographic
pressure with an
view with contrast
increase in LVOT
Ahmed I, Smalley
gradient, occurs
SJ, Zhu DWX,
because degree of
et al. Sudden
obstruction increases
cardiac arrest in
during the more forceful
apical hypertrophic
post-PVC beat.
cardiomyopathy.
BMJ Case Reports. Aortic stenosis: post-
2009;doi:10.1136/ PVC increased left
bcr.04.2009.17 ventricular pressure
and increased
ascending aortic
pressure. More forceful
DIAGNOSIS
post-PVC beat exerts

pressure on a fixed
stenotic valve.
»endomyocardial
biopsy (more
commonly done at
autopsy in the case
of a sudden death):
myocardial hypertrophy
and disorganisation
of muscle bundles
in a whorled pattern;
diffuse fibrosis of the
walls of the heart, with
somewhat increased
fibrosis observed
in intraventricular
septum; intramural
coronary artery arterial
wall thickening and
decreased lumen size
Uncommon

may be seen in 80% of
patients
Endomyocardial biopsy
is rarely performed
as myocardial
disarray is usually
present in a patchy
distribution.[79] [80]
May be complicated by
ventricular wall rupture.
◊ Idiopathic restrictive cardiomyopathy
may be asymptomatic may have signs of heart »ECG: findings »cardiac MRI: useful
or present with failure (jugular venous may suggest a in distinguishing
symptoms of cardiac distension, peripheral secondary cause for between constrictive
failure (shortness of oedema, basal crackles the cardiomyopathy pericarditis
breath on exertion, on lung auscultation, Infiltrative processes and restrictive
orthopnoea, fatigue, hepatomegaly) may be evident with cardiomyopathy; in
chest pain or pressure, constrictive pericarditis
paroxysmal nocturnal a loss of precordial the pericardium
dyspnoea, abdominal R wave progression may appear to be
discomfort, leg in leads V1-V6, calcified or thickened,
swelling); Family history which is not typically
DIAGNOSIS
representing a
of cardiomyopathy[43] present in restrictive
pseudoinfarction cardiomyopathy
pattern, and low limb Findings may
lead voltage. suggest a secondary
cause for the
»CXR: findings
may suggest a cardiomyopathy, such
secondary cause for as iron depositions in
the cardiomyopathy subepicardial regions
Common initial test in in haemochromatosis;
evaluation for heart myocardial infiltration
failure. However, it is with amyloid protein
not specific for any type in amyloidosis; or
of cardiomyopathy. inflammatory changes
in sarcoidosis.
Bilateral hilar or
mediastinal or lymph »cardiac
node enlargement catheterisation:
suggests a secondary similar haemodynamic
findings to constrictive
29
Uncommon
◊ Idiopathic restrictive cardiomyopathy

cause such as pericarditis, but higher
sarcoidosis. left ventricular than
right ventricular filling
»echocardiogram: pressures are more
normal or small suggestive of restrictive
reduction in left cardiomyopathy when
ventricular diastolic the diagnosis is in
diameter; bi-atrial question.
enlargement; restrictive
diastolic dysfunction;
normal appearance of
pericardium
It is very important to
distinguish restrictive
cardiomyopathy from
constrictive pericarditis,
as pericardiectomy
is indicated for
constrictive pericarditis.
Tests including
echocardiography,
cardiac MRI, and
cardiac catheterisation
are helpful in
distinguishing
between these two
DIAGNOSIS
conditions.[75]
peptide: elevated
cardiomyopathy.
Elevated levels
consistent with cardiac
dysfunction. Normal
levels have high
negative predictive
value.
Uncommon
Arrhythmogenic right ventricular cardiomyopathy/dysplasia

(ARVC/D)
male predominance; may be normal; S3, »ECG: may have »cardiac MRI:
first presentation often S4, or split S2 may be abnormal repolarisation increased signal
in adolescence; family present with T wave inversion intensity of right
history of sudden present in leads V1-V3; ventricular free wall on
cardiac death or an epsilon wave (small T1-weighted images
ARVC/D; chest pain, amplitude potentials representing fatty
palpitations, dizziness, at end of QRS); infiltration; thinning and
fatigue, dyspnoea, ventricular ectopy or akinesis/aneurysms
syncope, or sudden recurrent monomorphic of right ventricular
cardiac death after ventricular tachycardia free wall/triangle
physical exertion with left bundle branch of dysplasia; left
block pattern ventricular involvement
is increasingly
»echocardiogram:
recognised
right ventricular
dilatation; aneurysmal »cardiac
projections from right catheterisation:
ventricular wall right ventricular
enlargement; right
ventricular wall motion
peptide: elevated
abnormalities; normal
coronary artery
for heart failure. Not anatomy
specific to any type of Previously considered
cardiomyopathy. the definitive test
for diagnosis of
Elevated levels
arrhythmogenic
DIAGNOSIS
consistent with cardiac
right ventricular
dysfunction.
cardiomyopathy/
dysplasia (ARVC/D)
with a specificity of
approximately 90%
but has largely been
replaced by MRI.[81]
Remains useful
because it is an avenue
for endomyocardial
biopsy, of great utility in
the diagnosis of ARVC/
D.
»endomyocardial
biopsy: fibro-fatty
replacement of
myocardium
31
Uncommon
Arrhythmogenic right ventricular cardiomyopathy/dysplasia

(ARVC/D)

May have false
negatives and can
be complicated by
ventricular free wall
rupture.[28]
»exercise stress
test: exercise-
related ventricular
tachyarrhythmias
»ambulatory
monitoring:
spontaneous ventricular
tachyarrhythmias
»signal-averaged
ECG: a late potential
may be present
◊ Left ventricular non-compaction
often symptoms often non-specific or »ECG: may show

of cardiac failure unremarkable; signs of axis deviation, bundle
(shortness of breath on cardiac failure (jugular branch block, left
DIAGNOSIS
exertion, orthopnoea, venous distension, ventricular hypertrophy,

fatigue, chest pain or peripheral oedema, or non-specific ST-T
pressure, paroxysmal basal crackles on wave changes
nocturnal dyspnoea, lung auscultation, »CXR: may show
abdominal discomfort, hepatomegaly) can be enlarged cardiac
leg swelling) or present silhouette; increased
syncope; majority pulmonary markings
of patients are
Chest radiography is
asymptomatic; may be
a family history of the a common initial test
condition[35] in evaluation for heart
of cardiomyopathy.
»echocardiogram:
lateral apical left
ventricular deep
trabeculations and
intertrabecular
recesses; left
Uncommon

ventricular hypertrophy
with or without
dilatation
Imaging criteria.
DIAGNOSIS
33
Uncommon
Two
echocardiographic
criteria (Chin et al
and Jenni et al)
for diagnosing left
ventricular non-
compaction (LVNC):
A. Parasternal
short-axis view
demonstrating the
crescentic shape of
the right ventricular
cavity and the area
of non-compacted
myocardium in the
left ventricular apex.
DIAGNOSIS
B. Chin criteria. To
quantify the depth
of penetration of
the intertrabecular
recesses Chin et
al proposed an X-
to-Y ratio, where
X represents the
distance between the
epicardial surface
to the trough of
the trabecular
recesses and Y the
distance between the
epicardial surface
and the peak of
trabeculation. LVNC
using these criteria is
defined by a ratio of
X/Y ≤ 0.5. C.was
Jenni
34 This PDF of the BMJ Best Practice topic is based on the web
BMJ Best Practice topics are regularly updated
version
and the
that
most
criteria. Describes
last updated: May 22, 2020.
recent version
the Ltd
subject to our disclaimer. © BMJ Publishing Group left 2020.
ventricular
All rights reserved.
wall as being made
up of 2 layers,
Uncommon
syncope, palpitations, often non-specific to »serum potassium: »drug provocation

and cardiac arrest are causes of syndrome normal test with sodium
common presentations; and unremarkable Hyperkalaemia may channel blocker: may
may have family history produce ECG findings unmask ECG findings
of the syndrome[82] in Brugada syndrome
similar to Brugada
»electrophysiological
syndrome; elevated
study: inducible
potassium level must arrhythmia
be excluded.
»ECG: findings
vary with type of
channelopathy
Brugada syndrome:
J wave amplitude
>2 mm, T wave
changes, either coved
or saddleback ST-T
wave configuration, ST
segment descent or
elevation, ventricular
fibrillation, ST
elevations in ECG
leads V1-V3 with right
bundle branch block.
DIAGNOSIS
Long QT syndrome:
prolonged corrected
QT >450 ms (males),
>460 ms (females),
torsades de pointes, T
wave alternans.
Sick sinus syndrome:

inappropriate sinus
bradycardia, sinus
arrest, sino-atrial block,
sinus node re-entrant
tachycardia.
Catecholaminergic
polymorphic
ventricular tachycardia:
bidirectional ventricular
35
Uncommon

tachycardia with
alternating QRS axis on
exercise, resting ECG
usually normal.
Short QT syndrome:
QT interval <340 ms,
ventricular tachycardia
or fibrillation, peaked
T waves similar to
those produced by
hyperkalaemia.
Idiopathic ventricular
fibrillation: ventricular
fibrillation with no
underlying cause.
»echocardiogram:
usually no specific
findings
Useful to rule out other
causes of arrhythmias
and cardiomyopathies.
DIAGNOSIS
◊ Conduction system disease
patients may present exclude associated »ECG: prolonged PR, »electrophysiological

with syncope or sudden neuromuscular QRS, or QT intervals studies: prolonged HV
death; there may diseases with evidence of bundle intervals may be noted
be other features of branch block or high- His bundle (H)
cardiomyopathy or grade atrioventricular potential to the onset of
structural heart disease block
resulting in heart ventricular activity (V).
»ambulatory
failure; in some cases, monitoring: »genetic testing: may
there may be features evidence of high-grade identify causative gene
of an associated atrioventricular block
neuromuscular disease A wide range of
genes have been
implicated and include
SCN5A, KCNJ2, HCN4,
Uncommon
◊ Conduction system disease

NKX2.5, LMNA, DMPK,
and PRKAG2.[83]
◊ Mitochondrial disorders
present with a wide findings depend on the »clinical evaluation: »genetic testing:
range of symptoms specific organ systems diagnosis depends on results of testing
relating to the organ involved a high index of clinical nuclear and
systems affected; suspicion in patients mitochondrial DNA
the more common with multisystem (blood, muscle, and/
conditions, which involvement, exercise or other tissues) may
may have cardiac tolerance that is out of confirm diagnosis
manifestations, keeping with cardiac Mitochondrial disorders
include the Kearns- imaging (e.g., poor may result from
Sayre syndrome cardiopulmonary
and myopathy, lactic stress testing with mutations in either
acidosis, and stroke- early achievement of mitochondrial DNA
like-episodes (MELAS) anaerobic threshold), or nuclear DNA, and
syndrome or an unusual pattern the inheritance pattern
of inheritance (i.e.,
maternal if there will therefore vary
is a mitochondrial depending on location
mutation); tests are of the mutation.[77]
guided by clinical
presentation »echocardiogram:
DIAGNOSIS
»cardiopulmonary hypertrophic or dilated
exercise testing: cardiomyopathy
elevated ventilatory »muscle biopsy: may
equivalent for oxygen help confirm diagnosis
(VE/VO2) at peak
exercise
Impaired peak oxygen
consumption (VO2)
appears to correlate to
the severity of genetic
mutation.[9]
◊ Stress provoked (tako-tsubo)
usually affects older may be signs of cardiac »echocardiogram: »cardiac

women; history of failure (jugular venous apical ballooning of left catheterisation:
recent physical/ distension, peripheral ventricle
37
Uncommon
◊ Stress provoked (tako-tsubo)

psychological stress, oedema, basal crackles normal coronary
chest pain, dyspnoea; on lung auscultation, vessels
similar presentation hepatomegaly) Resembles Japanese
to anterior myocardial octopus fishing pot.
infarction[47]
Left ventriculogram
demonstrating
apical ballooning
in tako-tsubo
cardiomyopathy
Augustine DX,
Domanski A, Garg
A. The stress
of chest pain: a
case of tako-tsubo
cardiomyopathy.
BMJ Case Reports.
DIAGNOSIS
2009; doi:10.1136/
bcr.03.2009.1660
◊ Peripartum: dilated cardiomyopathy
most common in obese, may be signs of cardiac »ECG: non-specific

multiparous women failure (jugular venous ST-T wave changes or
>30 years of age, with distension, peripheral bundle branch block;
preeclampsia, towards oedema, basal crackles P wave abnormalities
the end of pregnancy or on lung auscultation, indicating atrial
in the months following hepatomegaly) enlargement
delivery; presents with A normal ECG has a
fatigue, shortness of 98% negative predictive
breath[49] [52]
value for left ventricular
systolic dysfunction.[73]
Uncommon
◊ Peripartum: dilated cardiomyopathy

»CXR: enlarged
cardiac silhouette
Common initial test in
evaluation for heart
of cardiomyopathy.
»echocardiogram:
normal or decreased
wall thickening in
dilatation in a
spherical pattern;
diminished stroke
volume on Doppler
4-chamber cardiac
enlargement
◊ Tachycardia induced: dilated cardiomyopathy
history of structural rapid, irregular pulse »ECG: evidence
DIAGNOSIS
heart disease with rate; features of cardiac of underlying atrial
decreased left failure due to systolic or ventricular
ventricular function, dysfunction (jugular tachyarrhythmias,
particularly idiopathic venous distension, which lead to the
dilated cardiomyopathy peripheral oedema, condition
and a tachyarrhythmia; basal crackles on A normal ECG has a
can affect any age lung auscultation, 98% negative predictive
group including hepatomegaly)
children; evidence of value for left ventricular
underlying cause for systolic dysfunction.[73]
tachyarrhythmia such
as thyrotoxicosis[55] »CXR: enlarged
cardiac silhouette
of cardiomyopathy.
»echocardiogram:
normal or decreased
39
Uncommon
◊ Tachycardia induced: dilated cardiomyopathy

wall thickening in
dilatation in a
spherical pattern;
diminished stroke
volume on Doppler
4-chamber cardiac
enlargement
◊ Amyloidosis: hypertrophic or restrictive cardiomyopathy
History of and signs of cardiac »ECG: may »serum and

symptoms of failure (jugular venous show conduction urine protein
amyloidosis and distension, peripheral abnormalities electrophoresis:
cardiac failure (e.g., oedema, basal crackles monoclonal spike
»echocardiogram:
fatigue, weight loss, on lung auscultation, speckled appearance representing excessive
shortness of breath on hepatomegaly), serum or urine
of myocardium, normal
exertion, orthopnoea, arrhythmias; specific immunoglobulins
or small reduction in
fatigue, chest pain or features suggestive Useful in evaluation for
left ventricular ejection
pressure), palpitations, of amyloid include amyloidosis should this
fraction; bi-atrial
syncope[59] periorbital purpura and enlargement; restrictive
macroglossia be the suspected cause
diastolic dysfunction;
of restrictive pattern
normal appearance of
DIAGNOSIS
pericardium cardiomyopathy.
Presence of left
»rectal biopsy:
ventricular hypertrophy amyloid on Congo red
by imaging with stain
evidence of low ECG »endomyocardial
voltages suggests that biopsy: amyloid on
myocardial thickening Congo red stain
is not due to myocardial »cardiac MRI: diffuse
hypertrophy but decrease in T1 and
T2 signal intensity
replacement by non- of the myocardium,
myocardial tissue. due to infiltration
with amyloid protein;
»B-type natriuretic global sub-endocardial
peptide: elevated late gadolinium
Readily available test enhancement
for heart failure. Not MRI is useful in
specific to any type of distinguishing between
cardiomyopathy. constrictive pericarditis
Uncommon
◊ Amyloidosis: hypertrophic or restrictive cardiomyopathy

and restrictive
cardiomyopathy,
because in the former
the pericardium
may appear to be
calcified or thickened,
which is not typically
present in restrictive
cardiomyopathy.
»cardiac
catheterisation:
similar haemodynamic
findings to constrictive
pericarditis, but
higher left than right
ventricular filling
pressures are more
suggestive of restrictive
cardiomyopathy when
diagnosis is in question
◊ Haemochromatosis: restrictive or dilated cardiomyopathy
DIAGNOSIS
history of signs of »ECG: decreased »cardiac MRI: iron
haemochromatosis and haemochromatosis QRS amplitude and depositions in sub-
related symptoms (e.g., (e.g., skin bronzing), flattened/inverted T epicardial regions
fatigue, arthralgias, signs of cardiac waves; arrhythmias »serum iron studies:
sexual dysfunction), failure (jugular venous »echocardiogram: elevated ferritin
symptoms of cardiac distension, peripheral either signs of mixed >449 picomoles/L
failure (shortness of oedema, basal crackles dilated-restrictive or (>200 micrograms/L);
breath on exertion, on lung auscultation, dilated cardiomyopathy elevated transferrin
orthopnoea, fatigue, hepatomegaly) and/or saturation; ferritin also
chest pain or pressure, arrhythmias acts as an acute phase
paroxysmal nocturnal reactant and levels
dyspnoea, abdominal may be elevated due to
discomfort, leg other acute illnesses
swelling), palpitations,
Cardiomyopathy
syncope [59]
is usually a late
complication of
haemochromatosis.
»liver biopsy:
elevated hepatic iron
concentration
41
Uncommon
◊ Haemochromatosis: restrictive or dilated cardiomyopathy

Evaluation for
haemochromatosis.
Cardiomyopathy
is usually a late
complication of
haemochromatosis.
»endomyocardial
biopsy: increased iron
concentration
◊ Fabry's disease: hypertrophic or restrictive cardiomyopathy
rare; symptoms begin rash in swimming-trunk »ECG: frequently »cardiac MRI: may
in adolescence, burning distribution; cornea shows left ventricular show left ventricular
pain in arms and legs, verticillata (whorl-like hypertrophy with non- hypertrophy; a
ocular involvement with epithelial deposits); specific ST-T wave characteristic finding
vortex keratopathy, anhidrosis changes is late gadolinium
renal insufficiency and enhancement in the
»CXR: enlarged
failure, fatigue; cardiac- postero-basal left
cardiac silhouette
predominant variant ventricular wall
may present in middle
evaluation for heart »serum levels of
life[19] [84] alpha-galactosidase
failure. However, it is A: levels are absent or
DIAGNOSIS
low in male patients,

of cardiomyopathy. but can be normal in
females
»echocardiogram: Fabry's disease is
may show left due to a deficiency in
ventricular hypertrophy;
alpha-galactosidase
may show binary
appearance to A causing the build-
left ventricular up of glycolipids and
endocardium[85] deposition into organs
Binary appearance: such as the heart and
echo-bright kidney.
endocardium adjacent
to hyporeflective DNA analysis will give a
subendocardial layer. definitive diagnosis.
Not all authors have
found this to be a
reliable feature.[86]
Uncommon
◊ Other lysosomal storage disease
symptoms vary signs variaby »ECG: findings »enzyme and/or

depending on the depending on the vary depending on substrate assays:
underlying disorder underlying disorder presence/absence of altered activity or levels,
(e.g., Gaucher's, (e.g., Gaucher's, cardiac hypertrophy/ depending on specific
Niemann-Pick's, Niemann-Pick's, conduction system enzyme deficiency
Hunter-Hurler, Pompe's Hunter-Hurler, Pompe's disease »genetic testing: may
syndromes) syndromes) »CXR: enlarged show mutation
cardiac silhouette
of cardiomyopathy.
»echocardiogram:
normal or small
reduction in left
ventricular ejection
fraction; bi-atrial
enlargement
peptide: elevated
cardiomyopathy.
DIAGNOSIS
◊ Doxorubicin: dilated cardiomyopathy
recent administration features of cardiac »ECG: non-specific ST- »endomyocardial

of doxorubicin, usually failure due to T wave changes biopsy: vacuolar
occurs 1-8 weeks after systolic dysfunction A normal ECG has a degeneration and
the final dose; age >70 (crackles at the lung 98% negative predictive interstitial oedema; no
years and pre-existing bases, peripheral inflammatory changes;
cardiac disease may oedema, jugular value for left ventricular histopathological
increase risk[87] [88] venous distension, systolic dysfunction.[73] grade corresponds
hepatomegaly) to cumulative dose of
»CXR: enlarged doxorubicin
cardiac silhouette
43
Uncommon
◊ Doxorubicin: dilated cardiomyopathy

of cardiomyopathy.
»echocardiogram:
normal or decreased
wall thickening in
dilatation in a
spherical pattern;
diminished stroke
volume on Doppler
4-chamber cardiac
enlargement
Serial echocardiograms
may demonstrate
reduction in ejection
fraction with repeated
doses of doxorubicin
preceding the
development of cardiac
failure.
◊ Heavy metals/chemicals: dilated cardiomyopathy

DIAGNOSIS
exposure to cobalt, horizontal lines »ECG: non-specific ST- »FBC/blood film:

occupational exposure across the fingernails, T wave changes basophilic stippling
to heavy metals, use neurological A normal ECG has a with arsenic or lead
of herbal medicines, impairment, features 98% negative predictive ingestion; may show
nausea and vomiting of cardiac failure due anaemia
with heavy metal to systolic dysfunction value for left ventricular
»serum chemistries:
ingestion (crackles at the lung systolic dysfunction.[73]
renal failure may be
bases, peripheral seen with heavy metal
oedema, jugular »CXR: enlarged
poisoning
venous distension and cardiac silhouette
hepatomegaly) Common initial test in
of cardiomyopathy.
»echocardiogram:
normal or decreased
Uncommon
◊ Heavy metals/chemicals: dilated cardiomyopathy

wall thickening in
dilatation in a
spherical pattern;
diminished stroke
volume on Doppler
4-chamber cardiac
enlargement
◊ Diabetes mellitus
history of diabetes signs of complications »ECG: non-specific ST- »fasting plasma

mellitus; polyuria, from diabetes: T wave changes glucose: >6.9 mmols/L
polydipsia if peripheral vascular (125 mg/dL)
»CXR: enlarged
undiagnosed; disease, ulceration, cardiac silhouette »HbA1c: ≥48 mmol/
symptoms of cardiac diabetic retinopathy; mol (6.5%)
failure (shortness of signs of cardiac
breath on exertion, failure: jugular venous evaluation for heart
orthopnoea, fatigue, distension, peripheral failure. However, it is
chest pain or pressure, oedema, basal crackles not specific for any type
paroxysmal nocturnal on lung auscultation,
of cardiomyopathy.
dyspnoea, abdominal hepatomegaly
discomfort, leg
»echocardiogram:
DIAGNOSIS
swelling) important to
evidence of diastolic
exclude associated
dysfunction and/or
coronary heart
systolic dysfunction
disease in patients
with diabetes »B-type natriuretic
mellitus who present peptide: elevated
with a suspected Readily available test
cardiomyopathy for heart failure. Not
cardiomyopathy.
◊ Thyroid dysfunction: dilated cardiomyopathy
tachycardia, signs of »ECG: sinus »thyroid function

palpitations, hyperthyroidism: bradycardia tests: elevated free
shortness of breath, tachycardia, weight (hypothyroidism) or T3 and/or free T4
paroxysmal nocturnal loss, tremor; signs sinus tachycardia/ with suppressed
dyspnoea, heat/cold of hypothyroidism: thyroid-stimulating
45
Uncommon
◊ Thyroid dysfunction: dilated cardiomyopathy

intolerance, weight thinning of hair, atrial fibrillation hormone (TSH) in
loss/gain, lethargy, numbness in fingers (hyperthyroidism) hyperthyroidism;
hyperdefecation/ and dry skin; signs of A normal ECG has a elevated TSH in
constipation, cardiac failure: jugular 98% negative predictive primary hypothyroidism
depression venous distension,
value for left ventricular »thyroid uptake and
peripheral oedema, scan: increased uptake
basal crackles on systolic dysfunction.[73]
in region of excess T4
lung auscultation, production in instances
hepatomegaly Older adults with
of Graves' disease or
hyperthyroidism may toxic nodular goitre
present with atrial Done following
fibrillation without other biochemical
symptoms (apathetic confirmation of
hyperthyroidism). hyperthyroidism.
Excludes low-uptake
»CXR: enlarged
cardiac silhouette causes such as
Common initial test in painless or subacute
evaluation for heart thyroiditis.
of cardiomyopathy.
»echocardiogram:
low left ventricular
ejection fraction,
may have pericardial
DIAGNOSIS
effusion in
hypothyroidism
In hyperthyroidism,
impaired left ventricular
function may be
seen (e.g., in atrial
fibrillation). Rarely,
high-output failure
occurs.
◊ Acromegaly: hypertrophic or dilated cardiomyopathy
shortness of breath, enlargement of hands, »ECG: may show left »serum insulin
chest pain, orthopnoea, feet, nose, and ears ventricular hypertrophy like growth factor-1
paroxysmal nocturnal with a prominent brow A normal ECG has a (IGF-1) levels:
dyspnoea; deep voice and jaw; signs of 98% negative predictive elevated
and slowing of speech; cardiac failure (jugular
Uncommon
◊ Acromegaly: hypertrophic or dilated cardiomyopathy

acromegaly can be venous distension, value for left ventricular Growth hormone values
asymptomatic[89] peripheral oedema, systolic dysfunction.[73] fluctuate throughout
basal crackles on
lung auscultation, the day and between
»CXR: enlarged
hepatomegaly) individual people.
cardiac silhouette
Common initial test in IGF-1 is a more reliable
evaluation for heart marker.
failure. However, it is »oral glucose
not specific for any type tolerance test with
of cardiomyopathy. growth hormone
levels: lack of normal
»echocardiogram: suppression of growth
concentric biventricular hormone
hypertrophy is seen Confirms growth
in the earlier stages, hormone excess.
with subsequent
development of »MRI brain: pituitary
diastolic dysfunction tumour
and then impaired
systolic function
◊ Noonan syndrome: hypertrophic cardiomyopathy
may be found in eye signs (downward »ECG: left ventricular »karyotype analysis/
conjunction with other sloping, ptosis, wide hypertrophy and left- genetic tests: normal
DIAGNOSIS
cardiac anomalies such set), undescended axis deviation often karyotype/mutations
as pulmonary valve testes, short stature, present; ST-T wave have been reported in
stenosis and septal pectus excavatum changes common; P PTPN11, KRAS, and
defects, problems with wave abnormalities other genes
language and speech, indicating atrial Used to exclude
normal intelligence enlargement other easily identified
in the majority of »CXR: enlarged chromosomal defects.
patients, puberty may cardiac silhouette
be delayed by up to 2
years, hearing loss in »echocardiogram:
50%[90] left ventricular
hypertrophy and
pulmonary stenosis
47
Uncommon
◊ Lentiginosis: hypertrophic cardiomyopathy
abnormalities of numerous pigmented »ECG: left ventricular

genitalia; hearing loss skin lesions (lentigines), hypertrophy and left-
(sensorineural)[20] pectus excavatum, axis deviation often
hypertelorism present; ST-T wave
changes common;
conduction defects are
also common
»CXR: enlarged
cardiac silhouette
»echocardiogram:
concentric left
chest pain, palpitations, jugular venous »ECG: sinus »trial of thiamine

ankle swelling, anxiety, distension, peripheral tachycardia and non- replacement:
mental impairment, oedema, tachycardia specific ST-T wave improvement in
poor appetite, (signs of high-output changes symptoms
abdominal pain, alcohol cardiac failure), A normal ECG has a This is easier and
dependency, poor diet peripheral neuropathy, 98% negative predictive cheaper than testing for
or oral intake high blood pressure,
cyanosis value for left ventricular the deficiency directly,
systolic dysfunction.[73] and excess thiamine is
DIAGNOSIS
not toxic.
»CXR: enlarged
cardiac silhouette »thyroid-stimulating
Common initial test in hormone: normal
evaluation for heart To exclude
failure. However, it is thyrotoxicosis in high-
not specific for any type output cardiac failure.
of cardiomyopathy.
»echocardiogram:
normal or decreased
wall thickening in
dilatation in a
spherical pattern;
diminished stroke
volume on Doppler
Uncommon

4-chamber cardiac
enlargement
◊ Friedreich's ataxia/muscular dystrophy: hypertrophic and

dilated cardiomyopathy
stumbling and falls, loss of proprioception »ECG: left ventricular »electromyography:

muscle weakness, distally, nystagmus, hypertrophy and T reduced sensory and
drooping eyelids, visual scoliosis wave changes, atrial motor potentials in
and hearing loss, fibrillation Friedreich's ataxia
speech difficulties[21] »CXR: enlarged
cardiac silhouette
»echocardiogram:
concentric left
is common
◊ Deficiency of iron, niacin, selenium, or vitamin D: dilated

cardiomyopathy
poor nutrition; risk signs of cardiac »ECG: non-specific ST- »serum selenium
DIAGNOSIS
factors for iron failure (jugular venous T wave changes levels: may be low
deficiency anaemia distension, peripheral A normal ECG has a »serum iron studies:
(heavy menstrual oedema, basal crackles 98% negative predictive low iron and ferritin
cycles, gastrointestinal on lung auscultation,
value for left ventricular levels in iron deficiency
losses); history of hepatomegaly) pale
bowel pathology mucous membranes systolic dysfunction.[73] »FBC: Hb low in iron
(malabsorption); (suggesting anaemia) deficiency
fatigue, shortness of »CXR: enlarged »serum vitamin D
breath, unusual food cardiac silhouette levels: may be low
cravings (pica due to Common initial test in
iron deficiency) evaluation for heart
of cardiomyopathy.
»echocardiogram:
normal or decreased
wall thickening in
dilatation in a
49
Uncommon
◊ Deficiency of iron, niacin, selenium, or vitamin D: dilated

cardiomyopathy

spherical pattern;
diminished stroke
volume on Doppler
4-chamber cardiac
enlargement
◊ Systemic lupus erythematosus: dilated cardiomyopathy
fatigue, rash, myalgia, butterfly rash, discoid »ECG: variable non- »serum antinuclear
arthritis, painless rash, heart murmur specific findings antibody test: usually
haematuria (Libman-Sacks A normal ECG has a positive
endocarditis), features 98% negative predictive »serum anti-Smith
of biventricular and anti-double
failure; jugular value for left ventricular
stranded-DNA
venous distension, systolic dysfunction.[73]
antibodies: usually
peripheral oedema, positive
hepatomegaly, crackles »CXR: enlarged
cardiac silhouette, Can also be positive in
at lung bases
pleural effusions, healthy subjects and in
infiltrates rheumatoid arthritis.
evaluation for heart »activated PTT
levels: may
DIAGNOSIS
be prolonged if
not specific for any type antiphospholipid
of cardiomyopathy. antibodies are present
»urinalysis:
»echocardiogram:
haematuria, casts, or
normal or decreased
proteinuria may be
present, indicating renal
wall thickening in
involvement
dilatation in a
spherical pattern;
diminished stroke
volume on Doppler
4-chamber cardiac
enlargement
Uncommon
◊ Endomyocardial fibrosis/Loeffler endocarditis

(hypereosinophilic syndrome)
majority of cases occur dependent on the heart »FBC: >600 cells/ »cardiac
following travel to chamber affected: mL peripheral catheterisation:
tropical regions within jugular venous blood eosinophils demonstrates alteration
15° of the equator; distension, oedema and in hypereosinophilic in the size and shape
Loeffler endocarditis ascites possible with syndrome of the individual
may occur without right ventricular fibrosis; heart chambers;
»CXR: may
precedent travel; signs of pulmonary the 'mushroom' sign
demonstrate atrial
women and children congestion (e.g., used to describe the
enlargement; ventricles
more commonly crackles, rales) with left shape of the fibrosed
usually normal size
affected; symptoms ventricular fibrosis ventricular apex
depend on which »ECG: may show a
»endomyocardial
chambers of the heart variety of abnormalities
biopsy: reactive
are affected; may including ST segment
fibrosis and thrombosis
include shortness of changes, abnormal
P waves and atrial Not usually required.
breath (left ventricle)
or peripheral oedema fibrillation Only performed if all
(right ventricle) A normal ECG is other investigations
unusual. have proved
inconclusive.
»echocardiogram:
may demonstrate a
pericardial effusion or
fibrosis
◊ Sarcoidosis
DIAGNOSIS
history of sarcoidosis, signs of cardiac »CXR: may »pulmonary

and/or features of failure (jugular venous show lymph node function tests:
the condition (e.g. distension, peripheral enlargement (typically restrictive pattern, or
dry cough, eye oedema, basal crackles bilateral hilar or obstructive or mixed
symptoms of dryness, on lung auscultation, mediastinal nodal pattern
blurred vision, and hepatomegaly), enlargement); less »lymph node
red eye); progressive pansystolic murmur, common features biopsy: non-caseating
symptoms of cardiac arrhythmias, lymph include a ground-glass granulomas
failure (shortness of node enlargement, appearance of the
breath on exertion, erythema nodosum lungs and small pleural »transbronchial
orthopnoea, fatigue, effusions lung biopsy: non-
chest pain or pressure, caseating granulomas
»serum angiotensin
paroxysmal nocturnal From mediastinal lymph
converting enzyme
dyspnoea, abdominal nodes if possible.
(ACE) level: may be
discomfort, leg elevated
swelling), palpitations, »cardiac MRI: may
Elevated in about half
syncope[66] show inflammatory
of patients. changes
»echocardiogram:
may be normal or
51
Uncommon
◊ Sarcoidosis

»ECG: may show show left ventricular
prolonged PR interval; dysfunction
higher degrees of heart Conduction system
block may be present abnormalities usually
Patients with biopsy-
precede suspicion of
proven extracardiac
cardiomyopathy.
sarcoidosis should be
screened for cardiac »endomyocardial
involvement with a 12- biopsy: granulomatous
involvement, often
lead ECG.[91]
patchy
The yield from
endomyocardial biopsy
is relatively low.
◊ Electrolyte disorders
symptoms will depend signs will depend on »serum metabolic »echocardiogram:

on the nature/cause the nature/cause of the panel: may show performed for signs of
of the electrolyte electrolyte abnormality low potassium, cardiomyopathy; rarely
abnormality calcium, phosphate, or may show evidence
magnesium levels of left ventricular
Cardiac dysfunction dysfunction
may be reversible
DIAGNOSIS
following treatment
of the underlying
electrolyte abnormality.
»ECG: hypokalaemia:
may show ST segment
depression, decreased
amplitude of T
waves, U waves;
hypocalcaemia/
hypomagnesaemia:
may show prolonged
QT interval
Assessment of cardiomyopathy Guidelines
Guidelines
Europe
Diagnosis and assessment of dilated cardiomyopathy: a guideline protocol

from the British Society of Echocardiography (ht tp://www.echorespract.com/
content/4/2/G1.full)
Published by: British Society of Echocardiography

Last published: 2017
2015 ESC guidelines for the management of patients with ventricular

arrhythmias and the prevention of sudden cardiac death (ht tp://
www.escardio.org/Guidelines)
GUIDELINES
Published by: European Society of Cardiology
2014 ESC guidelines on diagnosis and management of hypertrophic

cardiomyopathy (ht tp://www.escardio.org/Guidelines)
Published by: European Society of Cardiology

Classification of the cardiomyopathies (ht tp://eurheartj.oxfordjournals.org/

content/29/2/270.long)
Published by: European Society Of Cardiology Working Group on Myocardial and Pericardial Disease
International
Clinical recommendations for cardiopulmonary exercise testing data

assessment in specific patient populations (ht tps://www.escardio.org/
Guidelines/Consensus-and-Position-Papers/EAPC-Publications)
Published by: European Association for Cardiovascular Prevention & Rehabilitation; American Heart
Association
Report of the 1995 World Health Organization/International Society and

Federation of Cardiology Task Force on the definition and classification of
cardiomyopathies (ht tp://circ.ahajournals.org/content/93/5.toc)
Published by: World Health Organization; International Society and Federation of Cardiology Task Force
53
North America
Appropriate use criteria for multimodality imaging in the assessment

of cardiac structure and function in nonvalvular heart disease (ht tps://
www.acc.org/#sort=%40fcommonsortdate90022%20descending)
Published by: American College of Cardiology Appropriate Use Criteria Task Force; American
Association for Thoracic Surgery; American Heart Association; American Society of Echocardiography;
American Society of Nuclear Cardiology; Heart Rhythm Society; Society for Cardiovascular Angiography
and Interventions; Society of Cardiovascular Computed Tomography; Society for Cardiovascular Magnetic
Resonance; Society of Thoracic Surgeons
Cardiomyopathy in children: classification and diagnosis

(ht tps://professional.heart.org/professional/ScienceNews/
UCM_504145_Cardiomyopathy-in-Children-Classification-and-Diagnosis.jsp)
GUIDELINES
Published by: American Heart Association

Genetic evaluation of cardiomyopathy: a Heart Failure Society of America

practice guideline (ht tps://hfsa.org/hfsa-published-papers-guidelines)
Published by: Heart Failure Society of America; American College of Medical Genetics and Genomics
Current diagnostic and treatment strategies for specific dilated

cardiomyopathies (ht tp://professional.heart.org/professional/ScienceNews/
UCM_489381_Current-Diagnostic-Treatment-Strategies-for-Specific-Dilated-
Cardiomyopathies.jsp)
Published by: American Heart Association

ACR appropriateness criteria: nonischemic myocardial disease with

clinical manifestations (ht tps://www.acr.org/Clinical-Resources/ACR-
Appropriateness-Criteria)
Published by: American College of Radiology

North America
Inherited arrhythmias: workshop consensus report about the diagnosis,

phenotyping, molecular mechanisms, and therapeutic approaches for
primary cardiomyopathies of gene mutations affecting ion channel function
(ht tp://circ.ahajournals.org/content/116/20.toc)
Published by: National Heart, Lung, and Blood Institute; Office of Rare Diseases
Contemporary definitions and classification of the cardiomyopathies (ht tp://

circ.ahajournals.org/content/113/14/1807.full)
Published by: American Heart Association Council on Clinical Cardiology, Heart Failure and
Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and
Translational Biology Interdisciplinary Working Groups; Council on Epidemiology and Prevention
GUIDELINES
55
Assessment of cardiomyopathy Online resources
Online resources
1. ESC: HCM Risk-SCD (external link) (http://doc2do.com/hcm/webHCM.html)
ONLINE RESOURCES
Assessment of cardiomyopathy References
Key articles
• Maron BJ, Towbin JA, Thiene G, et al. Contemporary definitions and classification of the
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Assessment of cardiomyopathy Images
Images
IMAGES
Figure 1: Diseases that may cause cardiomyopathy
Elliott P, Andersson B, Arbustini E, et al. Classification of the cardiomyopathies: a position statement from
the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J.
2008;29:270-276. Used with permission.
67
IMAGES Assessment of cardiomyopathy Images
Figure 2: Proposed classification system

Elliott P, Andersson B, Arbustini E, et al. Classification of the cardiomyopathies: a position statement from
the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J.
2008;29:270-276. Used with permission.
IMAGES
Figure 3: Apical hypertrophic cardiomyopathy: 4-chamber echocardiographic view with contrast
Ahmed I, Smalley SJ, Zhu DWX, et al. Sudden cardiac arrest in apical hypertrophic cardiomyopathy. BMJ
Case Reports. 2009;doi:10.1136/bcr.04.2009.17
69
Figure 4: Two echocardiographic criteria (Chin et al and Jenni et al) for diagnosing left ventricular non-
compaction (LVNC): A. Parasternal short-axis view demonstrating the crescentic shape of the right ventricular
cavity and the area of non-compacted myocardium in the left ventricular apex. B. Chin criteria. To quantify the
depth of penetration of the intertrabecular recesses Chin et al proposed an X-to-Y ratio, where X represents
the distance between the epicardial surface to the trough of the trabecular recesses and Y the distance
between the epicardial surface and the peak of trabeculation. LVNC using these criteria is defined by a ratio
of X/Y ≤ 0.5. C. Jenni criteria. Describes the left ventricular wall as being made up of 2 layers, namely an
outer compacted layer C, contiguous with the epicardium, and an inner non-compacted layer N. The end-
systolic thickness of the non-compacted and compacted layer is taken at the area of maximal left ventricular
wall thickness in the parasternal short-axis view. A ratio of NC/C >2 is suggestive of LVNC
Adapted from Captur G, Nihoyannopoulos P. Left ventricular non-compaction: genetic heterogeneity,
diagnosis and clinical course. Int J Cardiol. 2010;140:145-153. Used with permission.
IMAGES
Figure 5: Dilated cardiomyopathy: echocardiogram
Tanejal AK, Wong J, Bayliss J. Antipsychotic-drug-induced dilated cardiomyopathy. BMJ Case Reports. 2009;
doi:10.1136/bcr.09.2008.0958
71
Figure 6: Left ventriculogram demonstrating apical ballooning in tako-tsubo cardiomyopathy

Augustine DX, Domanski A, Garg A. The stress of chest pain: a case of tako-tsubo cardiomyopathy. BMJ
Case Reports. 2009; doi:10.1136/bcr.03.2009.1660
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Contributors:
// Authors:
Pascal McKeown, MD
Professor
Director, Centre for Medical Education, School of Medicine, Dentistry & Biomedical Sciences, Queen's
University Belfast, Belfast, UK
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Alison Muir, MD
Consultant Cardiologist
Royal Victoria Hospital, Belfast Health and Social Care Trust, Belfast, UK
DISCLOSURES: AM is an author of a reference cited in this topic.
// Peer Reviewers:
Katherine Wu, MD
Associate Professor of Medicine
Division of Cardiology, Johns Hopkins Medical Institutions, Baltimore, MD
DISCLOSURES: KW declares that she has no competing interests.
John Coltart, MD, FRCP, FACC, FESC, MRCS

Cardio-thoracic Unit, Guy's and St Thomas' Hospital, London, UK
DISCLOSURES: JC declares that he has no competing interests.
Vaikom S. Mahadevan, MBBS, MRCP

Manchester Royal Infirmary, Manchester, UK
DISCLOSURES: VSM declares that he has no competing interests.

Assessment of Cardiomyopathy

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Assessment of Cardiomyopathy

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Assessment of

Straight to the point of care

Last updated: May 22, 2020

Diseases that may cause cardiomyopathy

Primary cardiomyopathies: genetic

Apical hypertrophic cardiomyopathy: 4-chamber echocardiographic view with contrast

Left ventricular non-compaction

• Includes long QT syndrome (autosomal dominant or recessive inheritance), Brugada syndrome,

Primary cardiomyopathies: mixed

Dilated cardiomyopathy: echocardiogram

• A less well-defined cardiomyopathy as its diagnosis is based on establishing the presence of a

Primary cardiomyopathies: acquired

Secondary causes of cardiomyopathy

• Amyloidosis (hypertrophic or restrictive): characterised by the deposition of amyloid fibrils in the

• Haemochromatosis (dilated or restrictive cardiomyopathy): classical haemochromatosis is an

Several toxins are associated with the development of cardiomyopathy.

• There is a strong correlation between doxorubicin and the development of cardiomyopathy.[60]

• Diabetes mellitus may cause an infiltrative/restrictive cardiomyopathy due to glycosylation of the

• Neuromuscular and neurological disorders such as Friedreich's ataxia, muscular dystrophies

Sudden death in young individuals (<40 years)

History of present illness

Echocardiogram, other imaging, and cardiac catheterisation

It is very important to distinguish restrictive cardiomyopathy from constrictive pericarditis, as pericardiectomy

Other specialised testing

Idiopathic dilated cardiomyopathy

Alcohol: dilated cardiomyopathy

Hypertrophic cardiomyopathy (HCM)

Idiopathic restrictive cardiomyopathy

Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D)

Left ventricular non-compaction

Brugada syndrome and other ion channelopathies

Conduction system disease

Stress provoked (tako-tsubo)

Peripartum: dilated cardiomyopathy

Tachycardia induced: dilated cardiomyopathy

Amyloidosis: hypertrophic or restrictive cardiomyopathy

Haemochromatosis: restrictive or dilated cardiomyopathy

Fabry's disease: hypertrophic or restrictive cardiomyopathy

Other lysosomal storage disease

Doxorubicin: dilated cardiomyopathy

Heavy metals/chemicals: dilated cardiomyopathy

Thyroid dysfunction: dilated cardiomyopathy

Acromegaly: hypertrophic or dilated cardiomyopathy

Noonan syndrome: hypertrophic cardiomyopathy

Lentiginosis: hypertrophic cardiomyopathy

Thiamine deficiency (wet beriberi): dilated cardiomyopathy

Friedreich's ataxia/muscular dystrophy: hypertrophic and dilated cardiomyopathy

Deficiency of iron, niacin, selenium, or vitamin D: dilated cardiomyopathy

Systemic lupus erythematosus: dilated cardiomyopathy

Endomyocardial fibrosis/Loeffler endocarditis (hypereosinophilic syndrome)

◊ Idiopathic dilated cardiomyopathy

History Exam 1st Test Other tests

of cardiomyopathy. dysfunction more

◊ Idiopathic dilated cardiomyopathy

History Exam 1st Test Other tests

Elevated levels (refer

History Exam 1st Test Other tests

History Exam 1st Test Other tests

◊ Alcohol: dilated cardiomyopathy

History Exam 1st Test Other tests

wall thickness; poor

Hypertrophic cardiomyopathy (HCM)

History Exam 1st Test Other tests