Heart - Cardiology & Cardiovascular Surgery

What are Pediatric and Congenital Heart Disease?

"We have a congenital heart institute that goes from prenatal diagnosis all the way to treating the elderly," says Ira Parness, MD, Professor of Pediatrics at the Icahn School of Medicine at Mount Sinai, and Chief of the Division of Pediatric Cardiology at Mount Sinai Heart.

Congenital disorders are present from birth. Congenital heart disease is the most common type of birth defect and causes more infant deaths than any other congenital disorder.

Congenital heart disease usually happens when the heart fails to develop properly, typically between 2 ½ and 7 ½ weeks after conception. We usually find these disorders during pregnancy or in early childhood, but sometimes they remain hidden until adulthood.

The most common types of congenital heart disease are:

  • Atrial septal defect, which occurs when there is a hole in the wall between the heart's upper chambers
  • Patent foramen ovale, which is also caused by a hole in the wall between the heart’s upper chambers
  • Ventricular septal defect, which happens when there is a hole in the wall between the heart's lower chambers
  • Patent ductus arteriosus, which occurs when the blood vessel connecting the aorta and thepulmonary artery does not close properly after birth
  • Aortic stenosis, which becomes an issue when the valve to the body is narrowed
  • Pulmonary stenosis, which happens when the valve to the lungs is narrowed
  • Tetraology of Fallot, which happens when the heart has a hole between the pumping chambers and obstructions within the artery leading to the lungs
  • Coarctation of the Aorta, which occurs when a segment of the aorta is too narrow for proper blood flow
  • Transposition of the great arteries, which occurs when the positions of the aorta and the pulmonary artery are reversed leaving the ventricles
  • Hypoplastic Left Heart Syndrome,which is when the left ventricle is so poorly formed that it cannot pump efficiently
  • Pulmonary Artery Stenosis, which is when a segment of the pulmonary artery is too narrow for blood to flow as it needs to
  • Pulmonary Hypertension, which is caused by scarring of the small arteries in the lungs

Risk Factors

While we cannot always predict when congenital heart defects will occur, some pregnant women have risk factors that increase their likelihood. The most common factors are: family history, diabetes on the mother's side, prenatal exposure to certain medications, or first-trimester exposure to German measles (rubella). We advise women displaying these conditions to have a fetal echocardiogram so we can check on the health of the fetus.  Most congenital heart disease is sporadic with no identifiable risk factor(s).

Acquired Pediatric Heart Diseases

Some heart diseases are not present at birth but develop later. The most common of these conditions are rheumatic fever, Kawasaki disease, cardiomyopathy, myocarditis, endocarditis, and arrhythmia.

In addition, some genetic disorders carry an increased risk of acquired pediatric heart disease:

  • Marfan Syndrome, a connective tissue disorder that weakens artery walls
  • Down Syndrome, a chromosomal abnormality associated with several congenital heart conditions
  • Hypertrophic Cardiomyopathy, a condition that thickens heart walls, and often runs in families
  • Long QT Syndrome,an abnormal electrical condition that can cause sudden death
  • Noonan Syndrome, a disorder that can cause obstructed blood flow from the heart to the lungs

Signs and Symptoms of Congenital Heart Disease

The signs or symptoms of congenital heart disease vary by age. Symptoms of the disease in newborns include rapid breathing or deep rib retraction during breathing, bluish skin, lips, and nails, fatigue or difficulty feeding, poor weight gain, or sweating, especially while feeding.

Signs and symptoms of congenital heart disease in older children and adults are similar. Specifically, we look for low exercise tolerance, fatigue, difficult or rapid breathing either at rest or with exercise, swollen feet, ankles, and legs, loss of consciousness, or loss of appetite or unexplained chronic bellyache.

If there are no obvious symptoms of congenital or pediatric heart disease during pregnancy, we may find it during a physical exam. We typically perform an electrocardiogram or echocardiograph during pregnancy to diagnose any defects in the heart. At Mount Sinai Heart we perform more than 1,200 fetal echocardiograms every year and can perform them as early as the 12th week of pregnancy.