Cardiomyopathy: Bệnh cơ tim

CLINICAL PRESENTATION

- Similar
- Most asymptomatic
- May have non-specific signs:
o Palpitation
o SOB
o Chest pain
o Generalized fatigue & weakness
o Lower extremity swelling
o Syncope

Primary & secondary: primary là chỉ có mỗi CM thôi, secondary là CM + một bệnh hệ thống
1. Dilated CM: bệnh cơ tim giãn
- Progressive dilation all 4 chambers & hypertrophy  increase heart weight
- Chamber wall: flabby (nhão)
- Maybe endocardial thrombi
- Microscopy: hypertrophied + stretched thin myocytes, interstitial fibrosis (xơ, phì,
giãn)
a. Causes:
- May hereditary, often AD (titin mutation most common)

- Other causes: toxin, post-myocarditis, pregnancy, hemochromatosis (bệnh thừa sắt)

o Pregnancy  PPCM
 Last month of gestation/several months postpartum
 Possible contributing factors: CO during pregnancy, nutritional
deficiencies, and/or immunologic factors
 Maybe lethal (transplant), resolve slowly or quickly (weeks)
 Risk of recurrence with future pregnancy, esp. if residual cardiac damage
o Hemochromatosis
 Excess iron absorption small intestine (hereditary)
 Cardiac deposition of iron in lysosomes  DCM or RCM
b. Mechanism
- LV remodelling occur  LV chamber change  Impaired myocyte contractility &
reduce stroke volume
c. Pathophysiology
- Impaired contraction & dilation
- Valvular defects (mitral & tricuspid regurgitation)
- Atrial enlargement  atrial fibrillation
d. Complications:
 - Progressive heart failure  death (unless transplant) – except resolve after postpartum
- Mitral insufficiency due to annulus dilation (suy van 2 lá do giãn vòng xơ – vòng annulus
là vòng ngoài cùng của van)
- Dysrhythmias
- Emboli from mural thrombi (cục đông màng trong tim

e. Diagnosis
- Physical exam
o Lung exam: bilateral crackles present on lung auscultation
o Cardiac exam: peripheral edema, elevated JVP
- ECG
o Combination of left bundle branch block & right axis deviation
o Left atrial enlargement present in mild  late stage of the disease
o Can present with arrhythmias (afib, VT)
- Echocardiogram:
o LV cavity dilation (normal/ decreased wall thickness)
o Reduce EF
o Can include left atrial enlargement but usually late stage
- Cardiac MRI/ coronary angiography/ genetic test
f. Treatment
- Lifestyle changes
- Low salt intake
- Angiotensin converting enzyme (ACE) inhibitors
- Beta blockers
- Diuretics
- Anti-coagulation
- Heart transplant
o 1 year survival is approximately 90%
o 20 year survival is approximately 50%
g. Prevention: implantable pacemaker/ ICD
2. Takotsubo myocardiopathy (Broken heart syndrome)
a. Mechanism
- Stress induced a catecholamine surge (norepinephrine/ epinephrine)  stimulate cardiac
muscle cells  apical stunning & vasospasm of coronary arteries
- Reversible cardiac systolic dysfunction with “apical ballooning” (phình lên ở apex)
b. Diagnosis
- Labs:
o (-) cardiac enzyme (troponin/ CK-MB)
- ECG
o Present as acute anterior wall STEMI (elevation in V2- V4) + T wave inversion
 - Echocardiogram: Pathognomonic wall motion abnormality which shows apical
ballooning and apical hypokinesis with normal LV base contraction
c. Treatment: supportive care (not treatment indicated) & lifestyle changes

3. Peripartum cardiomyopathy (PPCM)

- Risk: >30, preeclampsia, HTN, multiple gestation
- Mechanism: Auto inflammatory process in heart  cardiomyocytes damage & ischemia
 decrease systolic function of heart& decrease EF
- Pathophysiology:
o Cardiac ischemia  Scar tissue formation
o Tissue damage  arrhythmia, thromboembolism, sudden cardiac death
- Diagnosis: same as DCM
- Treatment:
o ACEi
o Beta blocker
o Diuretics
- Prevention: future pregnancy avoidance
- Prognosis: good
4. Hypertrophy CM: bệnh cơ tim phì đại (100% genetic cause)
Defect in energy transfer from mitochondria to sarcomere or direct sarcomere dysfunction
a. Causes
- Genetic inheritance
o Autosomal dominant trait for sarcomere proteins
o Myosin heavy chain or myosin-binding protein C
- Medication – tacrolimus (immunosuppressive drug)
b. Phenotype
- Myocardial hypertrophy à stiff LV (thất trái cứng) à mất khả năng đổ đầy và tăng co bóp
(filling & hypercontractile) LV à LV outflow obstruction 1/3 cases à HOCM (hypertrop
- Hypertrophy disproportionately affect IV septum  ASH (asymmetrical septum
hypertrophy)
 c. Pathophysiology
- Aortic outflow obstruction: (LVOT – left ventricular outflow tract obstruction)
o Bulging of IV septum into LV outflow tract beneath the aortic valve orifice
(Phình vách liên thất gần đường ra LV dưới van động mạch chủ)
o Abnormal movement of anterior mitral valve leaflet outflow tract  mitral
regurgitation
- Microscopic: disarray (intracellular myofibrils, myocytes, bundles of myocytes)
- Abnormal forces result in: increase systolic force, decrease diastolic relax  hypertrophy
in absence of increase work demand
- Thicken intramyocardial (septal) arteries  ischemic changes  angina, dysrhythmias
- Difference between HCM & LV hypertrophy

d. Screening & diagnosis

- Physical exam:
o Systolic murmur – best heard at left lower sternal border
o Dynamic murmur increase with Valsalva/ standing from sitting position
Valsava là bệnh nhân thở ra và nín thở rồi nghe
- ECG
o Increased QRS amplitude
o Left atrial enlargement
o Pathologic Q waves
o T wave repolarization abnormalities as T wave inversions in lateral leads
o Require s initial ambulatory ECG monitoring to evaluate for arrhythmias
o Must repeat every 1-2 years, even in asymptomatic patients
- Echocardiogram
o Left ventricle wall hypertrophy, diastolic dysfunction & LVOT obstruction +
mitral regurgitation
o Athletes may naturally have LV hypertrophy, but physiologic LV hypertrophy
has LV chamber dilatation and normal diastolic function.
o Cardiac MRI (demonstrate fibrosis)/ cardiac stress test/ gene test
e. Complication:
- Mitral valve infective endocarditis
- Emboli from mural thrombi
f. Treatnent
i. Lifestyle
- Avoid competitive physical activity, saunas, hot tubs as vasodilation leads to LVOT
obstruction
- Avoid alcohol
- Avoid dehydration
 ii. Pharmacologic & non-pharmacologic
- Non-vasodilating Beta blockers
- Calcium channel blocker
- Diuretics (caution as dehydration)  treat dyspnea
- Second line: disopyramide (Class intra-arterial (IA) antiarrhythmic drug with negative
inotropic activity may reduce symptoms)
- Heart transplant
Contraindications:
• Vasodilators such as nitrates, and phosphodiesterase type 5 (PDE-5) inhibitors
• Positive inotropic agents such as digoxin
- Surgery/ ablation for the outflow obstruction
iii. Prevention
- Implantable cardiac defibrillator: Patients with HCM are higher risk for sudden cardiac
death and an implantable cardioverter-defibrillator (ICD) should be placed if there is any
history of ventricular arrhythmia
- Septal myectomy:
o Reversed for patient refractory to medication
o LVOT gradient of 50 mmHg or greater
o Recurrent syncope
o Favored young because less surgical risk
o Result
 Associated with lower incidence of ventricular arrhythmia
 Higher likelihood of complete symptomatic relief
 Associated with 0.4% operative mortality
- Alcohol septal ablation
o Same indication with septal myectomy but with increased complication
o Favor old with comorbidities
o Complication: Risk of AV block during procedure and may require pacemaker
implantation111
iv. Prognosis
- 1-2% annual risk of sudden cardiac death due to fatal arrhythmia (ventricular tachycardia)
or heart failure
- Patients with a history ventricular tachycardia have a 10% annual recurrent rate
5. Restrictive/ Reactive CM: bẹnh cơ tim hạn chế
a. Causes: genetic disorders, infiltrative (amyloidosis, sarcoidosis), non-infiltrative
(scleroderma), myocardial
b. Pathophysiology
- Some restrictive physiology: cardiac Chagas disease, hemochromatosis, amyloidosis
- Abnormal stiff myocardium, impaired filling, due to deposition:
o Extracellular material (collagen/ amyloid)
 Amyloidosis:
 Abnormal fibrillar protein: soluble plasma precursor 
enzymatic cleavage  insoluble precipitates
 Deposited myocardial interstitium & walls of small blood vessels
 Important types of amyloid in the heart:
o Immunoglobulin light chain abnormal clonal B cell
proliferation (multiple myeloma)
 o Soluble amyloid associated protein, chronic
inflammatory disorders (Rheumatoid arthritis, IBD,
chronic osteomyelitis)
o Transthyretin, a normal blood carrier protein à
abnormally cleaved à senile cardiac amyloid (elderly)

o Infiltrating cells (macrophages/ tumor cells)

 Macrophages or Myocytes enlarged with glycogen or lipid hereditary
storage diseases. e.g. glycogen storage or Fabry’s disease. (storage
disease  HCM or DCM)
 Malignancy infiltrate myocardium include leukemias, lymphomas,
metastatic carcinomas (eg. breast or lung)
o Radiation-induced fibrosis recognized
- Ventricular normal size
- Atrial often dilate, may contain thrombi
c. Diagnosis:
- Differentiate with constrictive pericarditis: disease can mimic RCM but due to inflammation
of pericardium -> different management.
- Ventricular interdependence is a hallmark of constrictive pericarditis
- Physical exam:
o Increase jugular venous pressure (JVP). Increase JVP during inspiration suggests
constrictive pericarditis instead of RCM
o 3rd heart sound in RCM whereas pericardial knock in constrictive pericarditis
o Decompensated RCM: ascites & hepatomegaly
- Lab
o CBC show eosinophilia in which parasite may mimic RCM
o Transferrin and iron studies can show hemochromatosis
o Serum protein electrophoresis (SPEP) and free light-chain can identify AL
o Amyloid A (AA) amyloidosis
o B-type natriuretic peptide (BNP) is usually high in patients with RCM
- ECG: Low voltage in all leads --> amyloidosis (<0.5 mV in limb keads, <1 mV in
pericordical leads)
- Echocardiogram:
o Biatrial enlargement & severe diastolic dysfunction but normal ventricular size, wall
thickness, & EF
o Tricuspid & mitral regurgitation
- Technetium-99m cardiac imaging  unique test to identify specific amyloidosis
(transthyretin amyloidosis)
- Cardiac MRI (there will be calcification with pericarditis
- Cardiac biopsy
d. Treatment: only symptomatic treatment
- Salt restriction
- Loop diuretic relieve dyspnea but RCM is dependent on high filling pressures
- Beta blocker  Afib
- Anti coagulation if Afib present
- Digoxin (not recommnend)
- Cardiac transplant
e. Prognosis: 5-year survival rate is 60%, and 10-year survival rate is <40%.
6. Arrhythmogenic right ventricular cardiomyopathy (bệnh cơ tim thất phải gây loạn
nhịp)
- Autosomal dominant
- Defective desmosome protein  intracellular adhesion & gap junction malfunction
- Cardiomyocyte apoptosis
- Phenotypic alteration of cardiac stem cells to adipocyte/fibroblast
- Replacement myocytes by fibrous tissue and fat & thinned right ventricular wall .
- Right heart failure with dysrhythmias vent. tachycardia and fibrillation

7. Myocarditis
- Clinical presentation
o Mild “flu”- like illness (palpitations, chest pain)
o Progressive, fulminant, heart failure.
o Dysrhythmias  lethal (myocarditis sudden death young adults and athletes) •
o If diagnosis in doubt  endomyocardial biopsy
a. Immune reactions
- Acute rheumatic fever
- Drug hypersensitivity (include eosinophiles), e.g. penicillin, sulfonamides, furosemide
- Post-viral (usually lymphocytic)
- Systemic lupus erythematosis and other connective tissue diseases
- Transplant rejection
b. Infection
- Virus: Coxsackievirus A or B, other enteroviruses, Parvovirus
B19,HIV, CMV
o Lymphocytic myocarditis (T cells)
o Not frequent cultured from heart
- Protozoa: Trypanosoma cruzi (Chagas’ disease), Toxoplasma
gondii
- Bacteria: Corynebacterium diphtheriae, Borrelia (Lyme disease) – abscesses
- Chlamydiae: C. psittaci
 - Rickettsiae: R. typhi
- Fungus: Aspergillus, Candida – granulomas
- Helminths: Trichinella
- Acute lethal myocarditis  dilated, flabby heart (like DCM without hypertrophy)
c. Unknown
- Unknown Etiology with granulomas:
o Sarcoidosis (collection of inflammatory cells) – systemic granulomatous disease
 lung, mediastinal lymph nodes granulomas without necrosis (microscopy)
o Giant cell myocarditis – affect only the heart, large necrotizing granulomas
(macroscopy)
8. Left ventricular hypertrophy (LVH)
Thickening of the left ventricle of the heart
- Mechanism: not a disease in itself but a compensatory mechanism in which the heart can
increase cardiac output in response to increasing afterload
- Diagnosis:
o ECG:
 V5, V6 and avL for large R waves
 V1, V2, and V3 for large S waves
o Echocardiography: Quantitation of LV size. Mild 12-13mm; medium >13-17mm;
severe >17mm
- Treatment: underlying causes, usually HTN
- Prognosis: increase risk for heart failure, arrhythmia & sudden cardiac death
9. Right ventricular hypertrophy
- Causes:
o Never physiologic
o Pathologic: pulmonary HTN, tricuspid regurgitation, congenital heart defect,
infiltrative disease (Fabry)
- Mechanism: not a disease in itself but is a compensatory mechanism in which the heart
responds to hormones, mechanical forces, and inflammatory stresses by increasing its
mass to deal with insult. Late stage RVH can be a result of necrosis and fibrosis and is no
longer compensatory to the underlying process
- Pathophysiology:
o RV failure occurs when the RV is unable to pump against increased RV pressure
and pulmonary arterial pressure
o Given the small size of the RV (compared to LV), it is thought the progression
from hypertrophy to failure occurs along a shorter timeframe
o RV failure is irreversible and leads to significant mortality
- Diagnosis
o ECG:
 Right axis deviation
 Dominant R wave in V1/ V2
 S wave in V6
 o Echocardiography:
 Direct visualization of the right ventricle
>5mm RV wall thickness is considered to be hypertrophic
- Treatment:
o Underlying causes, usually pulmonary HTN
o Medicine:
 ACEi/ARBs
 Diuretics
 Beta blockers
 Aldosterone antagonist
 Vasodilators
 Cardiac glycosides