Congenital Heart Defects

What are congenital heart defects?

Congenital heart defects (CHD) are a common type of birth defect affecting the flow of blood to, from and through the heart. While some CHDs cause no symptoms and go undetected until adulthood, others cause severe and life-threatening symptoms. This is called critical congenital heart disease (CCHD) and often requires surgical intervention and special medical care in the baby's first year of life. Due to advances in medicine and surgical innovation, many babies that once would have died due to congenital heart defects now go on to live full and energetic lives, but may need ongoing monitoring of their hearts as they age.

Who is at risk of congenital heart defects?

While it is not well understood why some babies have CHDs, or why some with CHDs experience symptoms while others have no problems, a baby may be more at risk if the mother:

  • Smokes during pregnancy
  • Has a health condition such as diabetes
  • Is taking certain medications during pregnancy

Congenital heart disease may also be influenced by genetic changes and environmental factors, making it difficult to determine exactly why it happens.

Types of congenital heart defects

Atrial septal defect, atrioventricular septal defect, and ventricular septal defect are common examples of CHDs.

CHDs that are critical and produce life-threatening symptoms include:

  • Coarctation of the aorta
  • D-transposition of the great arteries
  • Ebstein anomaly
  • Hypoplastic left heart syndrome
  • Pulmonary atresia
  • Single ventricle
  • Tetralogy of Fallot
  • Truncus arteriosus

What are the symptoms of congenital heart defects?

In babies with a critical congenital heart defect, symptoms come on soon after birth, such as:

  • Blue or purplish tint to the skin (due to low oxygen levels in the blood)
  • Heart murmur
  • Low blood pressure
  • Poor feeding
  • Rapid breathing

Diagnosis and testing of congenital heart defects

If a baby is showing these types of signs and symptoms, the doctor may order additional testing, such as an echocardiogram, to test for congenital heart defects.

If you're an adult who was treated for a CHD in childhood, you may have additional symptoms in adulthood, such as arrhythmia, difficulty breathing, and getting tired easily. If you were never treated for the condition, it may worsen over time and you may experience problems with your heart later in life—or you may never have heart issues at all.

If you're experiencing symptoms that are concerning you, or you have a history of CHD, discuss this with your doctor. Your doctor will review your medical history and perform a physical exam, and may suggest certain tests, such as:


Depending on the results of your tests, your doctor will make recommendations or suggest a treatment approach based on your health condition, the severity of your heart defect, and other factors. Treatment for congenital heart disease in adults may include some combination of diet and lifestyle changes, medication and surgery.

Chorionic Villus Sampling (CVS)

A test that can be performed in the first trimester of pregnancy to determine chromosomal defects and congenital deformities in the developing fetus.


Genetics and Risk Assessment

Genetic evaluation is becoming an important part of personalized care, as many health conditions have a genetic basis and genetic test results can help to guide medical decisions. Our genetic counselors provide consultations related to cancer genetics, cardiovascular genetics and prenatal genetics.