Justin Every year, 1 million babies around the world — and 40,000 babies in the United States — are born with some type of heart defect, making congenital heart disease (CHD) the most common type of birth defect in children.

In most instances, congenital heart defects are random birth defects, but they are sometimes caused by genetic or chromosomal abnormalities. Other contributing risk factors include:

  • Maternal diabetes during pregnancy
  • Maternal use of certain medications or alcohol during pregnancy
  • Maternal infections such as rubella during pregnancy
  • Family history of genetic disorders
  • Congenital heart defects develop in the early stages of pregnancy as the baby's heart forms. Some women undergo prenatal fetal heart ultrasounds (fetal echocardiogram) if there is a risk factor for heart disease. Babies can be born with abnormalities in the heart structure, electrical system and heart function. Screening newborns for critical heart disease by checking their oxygen levels (pulse oximetry) in the hospital is now standard of care in many states.

There are many forms of congenital heart disease, but some common heart defects are:

Ventricular septal defect (VSD)

VSD is an opening in the tissue between the heart's lower chambers. This is also referred to as a hole in the heart. VSD can be diagnosed both in utero and shortly after birth. Most VSDs are small and can even close on their own. Others may persist but do not affect the work of the heart. Occasionally a VSD will be large enough to require surgical closure. Symptoms include:

  • Heart murmur
  • Difficulty feeding
  • Rapid breathing
  • Poor weight gain

Heart valve disease: aortic (AS) and pulmonary (PS) valve stenosis

The aortic valve sends blood flow to the body. The pulmonary valve sends blood flow to the lungs. Thickening of the aortic valve (AS) or pulmonary valve (PS) causes blockage of blood flow out of the heart; a heart murmur will be heard. In many cases the valve abnormality is mild and does not require any intervention. In more severe cases, children may require a cardiac catheterization and balloon dilation of the abnormal valve. Children and adolescents generally do not experience symptoms related to valve blockages and leakages. However, you may see the following:

  • Change in exercise capacity
  • Shortness of breath
  • Chest pain or dizziness

Coarctation of the aorta

Coarctation of the aorta refers to a condition when a portion of the aorta (the large artery that carries oxygenated blood out of the heart) is too narrow, resulting in reduced blood flow to the lower body. The main pumping chamber (left ventricle) compensates by working harder, which can lead to heart damage, heart failure, hypertension and damage to the organs that don't receive enough blood. In severe cases, babies are diagnosed shortly after birth, and they require surgery to repair the narrowed portion of the aorta. When the coarctation is milder, children may not be diagnosed until they are older. Symptoms include:

  • Rapid breathing
  • Sweating with feeding
  • Poor growth
  • Pale or gray appearance
  • Heart murmur
  • High blood pressure (infant or older child)
  • Nosebleeds (older child)
  • Headaches (older child)
  • Leg cramps (older child)

Tetralogy of Fallot (TOF)

Tetralogy of Fallot is a complicated condition that includes several heart defects including a VSD, a large aorta, a small pulmonary valve and thickening or hypertrophy of the right pumping chamber to the lungs. TOF is often diagnosed before birth, but can also be diagnosed after birth. In all cases of TOF, open heart surgery will be required in the first few months of life. Symptoms include:

  • Blue or purple skin, lips and nails
  • Heart murmur
  • Spells during which oxygen levels drop. Lips and skin will become bluer, and the child will become sleepy and unresponsive

Hypoplastic left heart syndrome (HLHS)

HLHS is a life-threatening condition where the left side of the heart is under-developed, and blood cannot adequately get to the organs of the body, leading to death. HLHS is often diagnosed before birth with a fetal ultrasound, but sometimes the condition is discovered after the baby is born. HLHS is most often fatal without immediate intervention and treatment. Babies with HLHS will need to undergo several open heart surgeries, starting as a newborn. Symptoms may be present at birth or a few days after. These include:

  • Blue or gray tint to skin, lips and nails
  • Difficulty feeding and breathing
  • Lethargy and limpness
  • Cool, clammy hands and feet

The Children's Hospital of Philadelphia is a proven leader in cardiac care and heart surgery. Specialists at the Cardiac Center are experts at diagnosing and treating every congenital heart condition.

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