What is Congenital Heart Disease?

Congenital heart disease (CHD) is a structural abnormality of the heart that is present at birth. CHD is estimated to affect 1 in 100 babies born in the United States, making heart disease the most common birth defect. CHD can range from mild cases, such as a small hole between the heart chambers, to more severe cases that affect the heart's function and require urgent surgical or trans-catheter intervention in infancy. 

What are the Causes?

Congenital heart disease occurs during the formation of the heart early on in pregnancy. The causes of CHD may be associated with genetic abnormalities, certain medical conditions in mothers such as uncontrolled diabetes, and exposure to certain infections or environmental factors during pregnancy, such as certain medications, alcohol consumption and smoking.

Signs and Symptoms:

The signs and symptoms of CHD depend on the type and severity of the condition. Some patients born with CHD may not have any symptoms until well into adulthood. In more severe forms of CHD, your child may have the following symptoms.

In infancy:
  • Fast or difficulty breathing
  • Cyanosis (pale gray or blue coloring of the skin)
  • Shortness of breath or sweating during feedings
  • Poor feeding or slow weight gain
In older children, symptoms can include: 
  • Becoming tired or short of breath easily during exercise or activity
  • Chest pain
  • Palpitations (fast or irregular heartbeats)
  • Fainting or near-fainting episodes
  • Swelling in the hands, ankles or feet

How are Heart Defects Diagnosed?

CHD can be diagnosed in several ways.

Diagnosis can be done before a child is born by doing a fetal heart ultrasound (fetal echocardiogram) during pregnancy. Fetal echocardiograms are done in mothers at higher risk of having children with congenital heart disease.

After birth, babies may show a bluish color of the skin called “cyanosis,” which is a sign of a low oxygen level in the blood. Also, all newborns are screened for critical congenital heart disease before they go home from the hospital using a pulse oximeter. This can help doctors identify more severe forms of congenital heart disease prior to the baby going home.

Some babies or children may have a heart murmur or concerning symptoms as mentioned above.

If there are any concerns about CHD in your child, the following tests are used to evaluate for CHD:
  • Echocardiogram: an ultrasound that shows the anatomy and function of the heart
  • Electrocardiogram (ECG): records the heart’s electrical activity
  • Chest X-ray: an image of the heart and lungs
  • Holter: a home cardiac monitoring study
  • Cardiac CT or MRI: an advanced imaging study of the structure and function of the heart and blood vessels

Treatments for Congenital Heart Disease:

Treatment for CHD depends on the type and severity of the defect. Mild forms may not require any treatment, but in more severe forms, treatment with medications, cardiac catheterization or surgery may be needed. Some children may require multiple procedures or surgeries throughout their lifetime.

Various forms of treatment include:
  • Medications: to help the heart work more efficiently
  • Cardiac Catheterization: a minimally invasive procedure to treat certain types of heart disease
  • Cardiac Surgery: open heart surgery to repair certain defects that may not be able to be fixed with cardiac catheterization

What Can I Do if My Child Has Congenital Heart Disease?

It is always difficult to hear your child is born with congenital heart disease. It is important to remember that medical care and treatment of children with CHD have advanced significantly in the past decades. Most children born with CHD are now living a healthy life into adulthood with little to no restrictions.

If your child is diagnosed with CHD, be sure to:
  • Follow up with your child’s cardiologist on a regular basis
  • Ensure your child receives their prescribed medications
  • Ask your doctor about exercise or activity restrictions for your child
  • Communicate with your child’s doctor about any changes in your child’s health
  • Understand that your child may have developmental or emotional difficulties associated with their condition
  • Provide support for your child, yourself and other family members


It is important to remember the health information found on this Web site is for reference only and not intended to replace the advice and guidance of your health care provider. Always seek the advice of your physician with any questions you may have regarding a medical condition. If you think you may have a true medical emergency, call 911 immediately.


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