Approach to

Diagnosis of
Congenital
Heart Diseases

Annalyn Piedad-Echavez, MD
Objectives:
• Develop an approach to taking a cardiac history and performing
a cardiovascular focused physical exam
• Discuss appropriate diagnostic examinations to establish the
diagnosis
• Discuss the common presentations of specific congenital heart
diseases that present at varying ages in children
• Discuss the management of each congenital heart diseases
History
Newborn
• Maternal history
• Perinatal history
• Birth history
• Past Medical and Surgical History
• Family History
Illness/Teratogen Cardiac Defect
Diabetes TGA, AV septal defect
Lithium Ebstein anomaly
Maternal PKU TOF, VSD, PDA
SLE Congenital Heart block
Rubella PDA
Retinoic acid Conotruncal abnormalities
History
Infants • Toddlers
• Feeding • Growth and development
• Inability to sustain physical
• Irritability and fussiness
activity
• Growth • Cyanosis
• Cyanosis • Seizure/syncope
• Breathing pattern
• Diaphoresis
History
Older Children and Adolescent • Palpitations
• Easy fatigue • Chest pain
• Physical Activity • Syncope
• Cyanosis • Edema
• Paroxysmal nocturnal • Joint pains
dyspnea • Illicit drug use, drug
• Orthopnea performance
 Vital signs

General appearance and growth

parameters
Physical Inspection of the nail beds, lips,
Examination tongue, and mucous membranes
Check for neck vein distention

Check for hepatomegaly, edema and

pulses
• Inspection & Palpation of the Abdomen
• Distension – Ascites
• Pulsatile abdominal aorta – aortic run-off
• Liver
– Infants: soft palpable 2 –3 cm below right costal margin
- 1 year old: 2 cm
- 4 – 5 years old : 1 cm
• Hepatomegaly : hallmark of systemic venous congestion in infants
• Pulsatile liver : TR or increase RA pressure Auscultation
Cardiac Examination
• Inspection and Palpation
✓Precordial activity
✓Thrills
✓Heave
• Auscultation
➢ Murmurs
Cardiac Examination
Four Questions to Ask:

1. Does the patient have a MURMUR?

2. Is the patient CYANOTIC?
3. Is the patient in HEART FAILURE?
4. What is the quality of the PULSES?
Does the patient have a MURMUR?

Physiologic (Innocent) Pathologic

Early systolic ejection If systolic and ejection are longer and
louder
Short duration Has a click
Low intensity (grade 2 or 1) All are diastolic
Vibrating (or musical) quality – All are regurgitant and late systolic
Venous hum
Is the patient CYANOT IC?
Breath holding Spell Cardiac cyanosis
Age First year of life Any age
(infancy/toddler)
At rest No cyanosis There is cyanosis even at rest
Quality Cyanosis upon holding one’s Deepening cyanosis during crying
breath after expiratory phase
of crying
Prognosis Good, recovers from spell; May develop hypoxic spell, metabolic
occasionally with loss of and seizure acidosis
consciousness but without
sequela
Is the patient in HEART FAILURE?

• Symptoms: poor feeding, tachypnea, failure to thrive,

diaphoresis, easy fatigability, puffy eyelids and pedal edema

• Signs: tachycardia, gallop rhythm, orthopnea, pulmonary

crackles, hepatomegaly, neck vein engorgement
What is the quality of the PULSES?
• Bounding Pulses – Aortic run off
lesions (PDA)
• Increased upper ext and decreased
lower ext – COA
• Pulsus paradoxus - constrictive
pericarditis, cardiac tamponade
• Pulsus alternans – severe LV failure
Diagnostic Evaluations
Radiologic Assessment
• Chest x-ray
• Electrocardiogram
• Echocardiographic examination
• CT
• MRI
 HEART DISEASE

CONGENITAL ACQUIRED

ACYANOTIC CYANOTIC
 ACYANOTIC DEFECTS

LEFT TO RIGHT OBSTRUCTIVE

SHUNTS LESIONS
 CYANOTIC DEFECTS

INCREASE PULMONARY DECREASE PULMONARY

BLOOD FLOW BLOOD FLOW
Congenital
Heart Diseases
• Atrial septal defect
• Ventricular septal defect
• Patent ductus arteriosus
• Pulmonary stenosis
• Coartation of Aorta
• Tetralogy of Fallot
• Transposition of Great arteries
Acyanotic CHD
• Left to Right Shunts Atrial septal defect

Ventricular septal defect

Patent ductus arteriosus

Atrial Septal
Defect
Atrial Septal Defect

• What causes the systolic and diastolic murmurs of ASD?

 Atrial Septal Defect
• Chest x-ray: right atrial and ventricular
enlargement, increased pulmonary
vascularity
• Electrocardiogram: shows volume
overload of the right ventricle
• Echocardiogram: right ventricular volume
overload
Atrial Septal Defect
• Treatment:
―Transcatheter or surgical device closure
― Percutaneous catheter device closure using an atrial septal occlusion

• Prognosis:
― Small- to moderate-sized may close spontaneously
Ventricular
Septal
Defect
 • Clinical Manifestations:
― Asymptomatic
• Physical Exam: loud, harsh, or
Ventricular blowing holosystolic murmur

Septal Defect • Chest x-ray: increased pulmonary

blood flow
• Electrocardiogram: normal or left
ventricular hypertrophy
 Ventricular Septal
Defect

• Treatment:

― Small defects: spontaneous closure

in 30-50% during 1st year of life
 • Patients at any age with large
defects with failure to thrive and
infants between 6 and 12 mo of
Indications age with large defects with
pulmonary hypertension
for surgical
closure of a • Patients older than 24 mo with a
Qp : Qs ratio greater than 2 : 1.
VSD : • Patients with a supracristal VSD of
any size are usually referred for
surgery risk for aortic valve
regurgitation
 Ventricular Septal
Defect
Complications:
- Infective endocarditis
- Recurrent lung infection
- Heart failure
- Pulmonary HTN
- Acquired pulmonary stenosis
- Aortic valve regurgitation
 • Medical
VSD: - Drugs – diuretics, inotropes;
Management ACE inhibitors
- Antibiotics prophylaxis
- Supportive – nutritional
• Surgical
- Palliative – PA banding
- Corrective – VSD patch
closure
- Interventional catheterization
Patent Ductus Arteriosus
Patent Ductus Arteriosus
Clinical Manifestations:
• Asymptomatic
• Large PDA → Heart failure
• Physical growth retardation
Physical Examination:
Wide pulse pressure
- Bounding pulses
- Dynamic precordium; thrill
- Classic continuous
(“machinery”) murmur at left
upper sternal border/left
lower sternal border
Patent Ductus Arteriosus
Diagnosis:

• CXR - Normal or Cardiomegaly (chambers involved are the left atrium

and left ventricle) and increased Pulmonary Vascular Markings
• ECG – normal or LVH/RVH
 Patent • Prognosis

Ductus
―Small PDA - normal life
―Large PDA - CHF

Arteriosus • Complications
―Infective Endocarditis/Endarteritis
―CHF
―Embolization
―Pulmonary HTN
Patent Ductus Arteriosus
Treatment:

• Transcatheter PDA closure

• Surgical closure - left thoracotomy or using thoracoscopic
minimally invasive techniques
Patent Ductus Arteriosus
• In what congenital infection is PDA associated with?
Acyanotic CHD
• Obstructive Lesions

Pulmonary valve stenosis

Coartation of Aorta
Pulmonary Valve Stenosis

• Accounts to 5-8% of CHD

• Associated with congenital rubella; noonan and william
syndrome
• Types: valvar, subvalvar (infundibular), supravalvar or peripheral
Pulmonary Valve Stenosis
• What syndrome is PS associated with?
Pulmonary
Valve
Stenosis
Pulmonary Valve Stenosis
Clinical Manifestation
• Mild to moderate
• Asymptomatic
• Severe stenosis- signs of right ventricular failure

Physical examination
• Systolic ejection murmur
 Pulmonary
Valve Stenosis
• CXR - normal or RVH
• ECG - RVH
• Echocardiography -
thickened pulmonic valve
with restricted systolic
motion
Pulmonary • Prognosis - good in mild to
Valve moderate
Stenosis
• Complications
- CHF in severe PS
- rarely IE
Pulmonary Valve Stenosis

Treatment:
• Interventional catheterization : Balloon valvuloplasty
• Surgical: valvotomy (block’s procedure)
 Accounts of 5-8% of CHD

Associated with bicuspid aortic Valve

Coarctation
of the Aorta Turner syndrome (XO) (20%)

May be associated with mitral and

aortic abnormalities = Shone complex
Coarctation of the Aorta
• What other heart anomaly is CoA associated with?
• What genetic syndrome is CoA seen in?
Coarctation
of the Aorta
Coarctation of the Aorta
Manifestations:
• Weakness/pain in the legs after exercise
• Arm-leg BP and pulse disparity SYSTOLIC HYPERTENSION
• Severe cases (infancy): severe heart failure, low cardiac output,
cyanosis
PE: Short systolic murmur at LPSB, L infraclavicular, interscapular
area
Coarctation • CXR
- cardiomegaly & pulmonary

of the Aorta congestion

- Notching of ribs

• ECG

• Echocardiography

• Cardiac Catheterization
 Treatment:
Coarctation
of the Aorta • IV PGE1 in neonatal age
• Surgery
 CYANOTIC CONGENITAL
HEART DISEASE

DECREASED PULMONARY INCREASED PULMONARY

BLOOD FLOW BLOOD FLOW
TETRALOGY OF FALLOT
TRANSPOSITION OF THE GREAT ARTERIES
TRICUSPID ATRESIA
TOTAL ANOMALOUS PULMONARY VENOUS
TRANSPOSITION OF THE GREAT
RETURN
ARTERIES
TRUNCUS ATERIOSUS
EBSTEIN ANOMALY
Evaluation of Crtically Ill Neonate with
Cyanosis

1. Hyperoxia test
2. Chest Roentrogram
3. Two-Dimensional Echocardiography
4. Cardiac Catheterization
• Central cyanosis
• bluish discoloration of the skin, mucus membranes and
tongue

• Peripheral cyanosis
• involves a bluish discoloration of the skin but sparing of the
mucus membranes & tongue
Tetralogy
of Fallot
Tetralogy of Fallot
TOF RISK FACTORS
• Males
• 1st degree family history of CHD
• Teratogens:
• Alcohol (fetal alcohol syndrome)
• Warfarin (fetal warfarin syndrome)
• Trimethadione: antiepileptic drug used in treatment
resistant epilepsy
Tetralogy of Fallot
• Genetics:
• CHARGE syndrome (CHD7 mutation – 65%):
• Coloboma, Heart defects, Atresia
choanae, Retardation of
growth/development, Genitourinary anomalies, Ear
anomalies
• Di George syndrome (22q11 deletion – 50%)
Tetralogy of Fallot
• VACTERL association (sporadic –20%):
• Vertebral anomalies, Anorectal malformation, Cardiac
defects, Tracheo-oesophageal fistula, Renal
anomalies, Limb abnormalities)

• Associated congenital defects:

• Right aortic arch (25%)
• Congenital diaphragmatic hernia (20%)
Tetralogy of Fallot
Manifestations:
• Cyanosis → often progressive
• Asymptomatic
• Dyspnea in exertion, squatting
• Delayed growth & development
• Hypercyanotic spells or “tet spells”
Tetralogy of Fallot
Paroxysmal hypercyanotic attacks
• hypoxic, “blue,” or “tet” spells
• problem during the 1st 2 yr of life
• hyperpneic and restless, cyanosis increases, gasping
respirations, syncope
• spells occur most frequently in the morning on initially
awakening or after episodes of vigorous crying
• last from a few minutes to a few hours
Tetralogy of Fallot
• MANAGEMENT: combination of heart rate control and vascular
resistance manipulation
• Calm the patient
• Knee chest position
• Initiate oxygen
• IV fluid bolus
• Propanolol and IV Phenylephrine
Tetralogy of Fallot
Physical Exam:
• systolic thrill, left sternal border in the 3rd & 4th parasternal spaces
• Holosystolic Murmur with ejection at upper sternal border and
preceded by a click
• Tachycardia
• Irritability
• Clubbing of fingers
Tetralogy
of Fallot

CXR
ECG
Echocardiography
Tetralogy of Fallot
Complications:
• Cerebral thrombosis - in < 2 years
• Brain abscess
• Infective endocarditis
• Polycythemia
• CHF in pink TOF
 • Treatment
Severe outflow obstruction
Medical - PGE1 infusion

Tetralogy
- Prevent dehydration
- Partial exchange

of Fallot transfusion
- Oral propranolol for tet
spells
Surgery - Blalock Taussig
- Total correction
 TRANSPOSIT ION OF THE GREAT
ARTERIES
• 2nd most common cyanotic CHD – most common presenting in
the 1st week of life
• Aunts for ≈5% of all congenital heart disease
• Associated lesions: VSD, ASD, PDA
TRANSPOSIT ION OF THE GREAT
ARTERIES
TRANSPOSITION OF THE GREAT ARTERIES

Associated lesions
• - ASD, VSD or PDA
• - Shunts necessary for survival
TRANSPOSITION
OF THE GREAT Manifestations:
ARTERIES - Cyanosis at birth
- CHF
Physical examination
- Cyanosis, tachypnea
- Single loud S2; No
murmur or a soft systolic
murmur
TRANSPOSITION
OF THE GREAT
ARTERIES

• CXR: egg on a string

• Echocardiography is
diagnostic and confirms
the transposed
ventricular-arterial
connections
• ECG: RVH
 TRANSPOSIT ION OF THE
GREAT ARTERIES
Management:
• Palliative: Prostaglandin infusion
Treat CHF
Balloon Atrial Septostomy and Surgical Septostomy
• Definitive: Surgical procedure
Arterial Switch –Jatene Procedure
Atrial Switch – Senning or Mustard procedure
CaseScenario
• Newborn brought to ER due to cyanosis
• Born FT to a 27-year old G1 P0 mother via spontaneous normal
delivery at home assisted by a midwife with note of difficult
delivery.

Maternal History:
• Mother is diagnosed with GDM with poor controlled.
• She had UTI 1 week prior to delivery and not treated.
Case Scenario
• At birth, meconium stained with fair cry and activity
• 1 hour after delivery, noted to have fast breathing , chest
indrawing and circumoral cyanosis and hence brought to
ManilaMed
Case Scenario
• On PE: awake, irritable in respiratory distress
• HR 170 bpm, RR 70cpm, O2 saturation on RA 82%
• Cyanotic lips
• SCE, clear breath sounds (+) subcostal and intercostals
retractions, no wheezes
• Adynamic precordium, tachycardic, grade 3/6 systolic ejection
murmur on pulmonic area and left sternal border
What are your possible differential diagnoses?

Cyanosis

Sepsis Pulmonary Cardiac

Case Scenario
• What diagnostic test will you request?
Case Scenario
• What is your diagnosis?

• What will be your management?

 • Nelsons Textbook of Pediatrics
EDITION 21st Volume 1

Reference Kliegman/Stanton/ St Geme/Schor

• Fundamentals of Pediatrics Vol. 1
and 2- Navarro, Bauzon, Aguilar,
Malanyaon