17

• Congenital heart disease


  Heart disease present at birth
• Cardiac history taking


  • Neonatal presence of cyanosis, respiratory distress, or prematurity
  • Timing of the initial symptoms
  • Maternal complications such as gestational diabetes, medications, systemic lupus erythematosus, or substance abuse

  
• Heart failure in infants

  • Feeding difficulties are common
  • Takes less volume per feeding and becomes dyspneic or diaphoretic while sucking
  • Rapid breathing, nasal flaring, cyanosis, and chest retractions
• Heart failure in older children

  • Exercise intolerance, difficulty keeping up with peers during sports
  • Poor growth
  • History of fatigue in stair climbing, walking, bicycle riding, physical education class, and competitive sports
  • Orthopnea and nocturnal dyspnea
• Extracardiac malformations


  • Noted in 20–45% of infants with congenital heart disease
  • Between 5 and 10% of patients have a known chromosomal abnormality
• Family history


  • Coronary artery disease or stroke
  • Familial hypercholesterolemia or thrombophilia
  • Generalized muscle disease
  • Relatives with congenital heart disease
• Cardiac disease


  Could be a manifestation of congenital heart disease, part of a congenital anomaly, a manifestation of chromosomal anomaly, or an effect of a systemic disease
• Cardiac defects in common syndromes


  • CHARGE association
  • DiGeorge sequence, CATCH 22
  • Alagille syndrome
  • VATER association
  • FAVS

  
• Teratogenic agents


  • Congenital rubella
  • Fetal hydantoin (phenytoin) syndrome
  • Fetal alcohol syndrome
  • Fetal valproate effects
• General physical examination


  • Cyanosis, abnormalities in growth, and any evidence of respiratory distress
  • Murmur must always be analyzed in the context of other physical findings
  • Quality of the pulses or the presence of a ventricular heave, provide important clues to a specific cardiac diagnosis
  • Growth failure
  • Clubbing of the fingers and toes
• Signs of congestive heart failure

  • Hepatomegaly and occasionally splenomegaly
  • In infants, periorbital edema and over the flanks
  • In older children, edema and pedal edema
• Cardiac examination


  • Left precordial bulge with increased precordial activity suggests cardiac enlargement
  • Epigastric pulsation suggests right ventricular enlargement
  • Apical heave suggests left ventricular hypertrophy
  • Hyperdynamic precordium suggests a volume load
  • Silent precordium suggests pericardial effusion, severe cardiomyopathy, or obesity
• Cardiac examination


  • Apical impulse moves laterally and inferiorly with enlargement of the left ventricle
  • Right-sided apical impulses suggest dextrocardia, tension pneumothorax, or left-sided thoracic space-occupying lesions
• Thrills


  • Suprasternal notch and neck suggest aortic stenosis or pulmonary stenosis
  • Right lower sternal border suggest ventricular septal defect
  • Apical systolic thrills suggest mitral insufficiency
  • Diastolic thrills suggest atrioventricular valve stenosis
• Heart sounds


  1st heart sound is caused by closure of the atrioventricular valves<|>2nd heart sound is caused by closure of the semilunar valves<|>Splitting of the 2nd heart sound increases during inspiration and decreases during expiration
• Murmurs


  • Intensity graded from I to VI
  • Systolic murmurs classified as ejection, pansystolic, or late systolic
  • Systolic ejection murmurs suggest aortic or pulmonary stenosis
  • Pansystolic murmurs suggest ventricular septal defect or atrioventricular valve insufficiency
  • Continuous murmur suggests patent ductus arteriosus or other aortopulmonary communication
  • To-and-fro murmur suggests aortic or pulmonary stenosis combined with insufficiency
• Murmurs


  • Absence of a precordial murmur does not rule out significant congenital or acquired heart disease
  • Murmurs may seem insignificant in patients with severe aortic stenosis, atrial septal defects, anomalous pulmonary venous return, atrioventricular septal defects, coarctation of the aorta, or anomalous insertion of a coronary artery
• Innocent murmurs


  Non-structural/functional<|>Ejection systolic of grade II or lower<|>Heard at left lower and midsternal border<|>No significant radiation to the apex, base, or back<|>Found in high output states
• Innocent murmurs


  • Features suggestive of heart disease include murmurs that are pansystolic, grade III or higher, harsh, located at the left upper sternal border, and associated with an early or midsystolic click or an abnormal 2nd heart sound
• Congenital heart disease occurs in 0.5–0.8% of live births
• Relative frequency of congenital heart disease

  • Ventricular septal defect
  • Atrial septal defect (secundum)
  • Patent ductus arteriosus
  • Coarctation of aorta
  • Tetralogy of Fallot
  • Pulmonary valve stenosis
  • Aortic valve stenosis
  • d-Transposition of great arteries
  • Hypoplastic left ventricle
  • Hypoplastic right ventricle
  • Truncus arteriosus
  • Total anomalous pulmonary venous return
  • Tricuspid atresia
  • Single ventricle
  • Double-outlet right ventricle
  • Others
• Congenital heart disease fatal in fetal life

  • Most congenital defects are well tolerated in the fetus because of the parallel nature of the fetal circulation
  • Except Ebstein anomaly, even the most severe cardiac defects (hypoplastic left heart syndrome) can usually be well compensated for by the fetal parallel circulation
  • CHD becomes apparent after birth when the fetal pathways are closed
• Time of presentation


  • At birth: severe respiratory distress, critical semilunar valve stenosis, hypoplastic left heart syndrome, d-transposition with no shunt lesion
  • At 6-8 weeks: most left to right shunt lesions when the pulmonary vascular resistance decreases to less than the systemic pressure
• Dynamics of congenital heart disease

  • Severity of various defects can change dramatically with growth
  • Muscular VSDs become smaller or close spontaneously
  • Semilunar valve stenosis mild in the newborn period may become worse if valve orifice growth does not keep pace with patient growth
• Etiology


  • Multifactorial
  • Hereditary/familial
  • Chromosomal
  • Teratogenic factors/environmental/maternal drug use
• Heart disease is found in more than 90% of patients with trisomy 18, 50% of patients with trisomy 21, and 40% of those with Turner syndrome
• Environmental risks


  2 to 4% of cases of congenital heart disease
• Time of presentation


  At birth<|>Present with severe respiratory distress<|>6-8 weeks
• Congenital heart disease


  • Critical semilunar valve stenosis
  • Hypoplastic left heart syndrome
  • D-transposition with no shunt lesion
  • Most left to right shunt lesions when pulmonary vascular resistance decreases to less than the systemic pressure
• Symptomatology


  Depends on the degree of shunt
• Dynamics of congenital heart disease

  1. Severity of defects can change dramatically with growth

  2. Muscular VSDs become smaller or close spontaneously

  3. Semilunar valve stenosis mild in newborn period may become worse if valve orifice growth does not keep pace with patient growth
• Etiology of congenital heart disease

  • Multifactorial
  • Hereditary/familial
  • Chromosomal
  • Teratogenic factors/environmental/maternal drug use
• Environmental risks for congenital heart disease

  • Adverse maternal conditions (maternal diabetes mellitus, systemic lupus erythematosus, phenylketonuria)
  • Teratogenic influences (congenital rubella syndrome, maternal ingestion of drugs)
• Gender differences in congenital heart disease

  Transposition of the great arteries and left-sided obstructive lesions are slightly more common in boys (65%), whereas shunt lesions and pulmonic stenosis are more common in girls
• No racial differences in congenital heart disease
• Familial risk of congenital heart disease

  Risk increases if a 1st-degree relative is affected (2-6% with 1 affected, 20-30% with 2 affected)<|>Lesion in 2nd child tends to be of a similar class as the 1st-degree relative, but degree of severity and associated defects may be variable
• Basis of classification of congenital heart disease

  • Presence or absence of cyanosis
  • Presence and character of murmurs
  • Chest X-ray (increased, normal, or decreased pulmonary vascular markings)
  • Electrocardiogram (right, left, or biventricular hypertrophy)
• Types of acyanotic congenital heart disease


  • Lesions causing volume overload (left-to-right shunt lesions, AV valve regurgitation, cardiomyopathies)
  • Lesions causing pressure overload (ventricular outflow obstruction, coarctation of the aorta)
• Left-to-right shunting lesions


  Direction and magnitude of shunt depend on size of defect and relative pulmonary and systemic pressure and vascular resistance
• Lesions resulting in increased pressure load

  • Pulmonic stenosis
  • Aortic stenosis
  • Coarctation of the aorta
  • Tricuspid or mitral stenosis and cortriatriatum