Guide to Congenital Heart Disease

Key Facts

  • The term congenital heart disease refers to several different pediatric heart conditions
  • Congenital means present from birth
  • The unifying feature for congenital heart diseases is a structural heart defect from abnormal development

What is congenital heart disease?

Congenital heart disease is a term for defects in the structure of the heart that are present from birth due to abnormal cardiac development during gestation.

What are types of congenital heart diseases?

Some of the common congenital heart diseases include: 

  • Tetrology of Fallot — a combination of four defects (tetrology) in the heart that lead to abnormal blood flow out of the heart to the body. Babies and children with this heart defect often have cyanotic (blue-tinged) skin, due to poor oxygenation. Other symptoms include shortness of breath, exercise intolerance, loss of consciousness, a heart murmur, and abnormal rounding of the fingernails (clubbing).
  • Coarctation of the Aorta — the narrowing of the aorta, the major artery in the body, affecting the blood flow. Because the heart must pump through a narrowed vessel, it must work harder to maintain blood flow. As a result, infants with aortic coarctation may develop pale skin from poor oxygenation, fatigue, difficulty breathing, difficulty feeding. Older teenagers and adults may experience muscle weakness, leg cramps, exercise intolerance, chest pain, or high blood pressure. If untreated, aortic coarctation can lead to heart failure. 
  • Ventricular Septal Defect — a hole in the heart between the left and right ventricles that allows for oxygen-rich and oxygen-poor blood to mix. Infants with a VSD may show signs of poor feeding, failure to thrive, breathlessness, or fatigue. A murmur can usually be heard on physical exam. Some small defects often close on their own; other medium and large defects may require surgery to prevent later in life complications. 
  • Transposition of the Great Arteries — a serious but rare heart defect where the two main arteries connected to the heart are switched in position (transposed). The transposition of these two arteries affects the blood flow and oxygenation to the body. Usually, the condition is detected prenatally or at birth. Signs include blue color of the skin (cyanosis), difficulty breathing, difficulty feeding, and poor weight gain. Surgery is the definitive treatment, usually within the first week of life. 

Congenital heart diseases are defects in the structure of the heart. Often, the most definitive treatment is surgery to correct the underlying anatomical defect. Medications may play a role in symptom management. Many patients with congenital heart disease go on to lead functional, meaningful lives. The most common adulthood limitations include exercise intolerance or shortness of breath with exertion.

Next Steps 

If your child has a congenital heart issue, the Congenital Heart Center can help. Our team can offer personalized treatment plans delivered with a level of quality that could only come from one of the most experienced programs in the country.

Call us at (212) 305-2688 or use our online form to schedule an appointment.   

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