Congenital Heart Defects: Symptoms, Risk factors, Treatment


Congenital heart defects, also known as congenital heart disease (CHD), refer one or more abnormalities in your heart structure which is present at your birth. They are the most common type of birth defects, affecting how the blood flowing through the heart and out to the rest of the body. According to statistics, about 1 in 4 newborns has congenital heart defects. Infants with CHD need surgery or other procedures in the first year of life. Thanks to the advance of medical care and treatment, many of them now can live into their adulthood.



Types of congenital heart defects include:

  • Atrial Septal Defect.
  • Atrioventricular Septal Defect.
  • Coarctation of the Aorta.
  • Double-outlet right ventricle.
  • d-Transposition of the great arteries.
  • Ebstein anomaly.
  • Hypoplastic Left Heart Syndrome.
  • Interrupted aortic arch.
  • Pulmonary atresia.
  • Single ventricle.
  • Tetralogy of Fallot.
  • Total Anomalous Pulmonary Venous Return.
  • Tricuspid atresia.
  • Truncus Arteriosus.
  • Ventricular Septal Defect.



Congenital heart defects can range from simple to complex. Some people with this condition may have no signs or symptoms, while some people may have symptoms that occur later in life and can recur years after the treatment. Common symptoms you may have as an adult involve:

  • Abnormal heart rhythms (arrhythmias).
  • A bluish tint to the skin, lips and fingernails (cyanosis).
  • Shortness of breath.
  • Tiring quickly upon exertion.
  • Swelling of body tissue or organs (edema).


Risk factors

The exact cause of congenital heart defects remains unknown. Individual genes or chromosomes are thought to be the possible causes of this condition in some babies. Also, certain environmental and genetic risk factors play a role in the development of the defects, such as:

  • German measles (rubella). If your mother has rubella while pregnant, it will affect your heart development.
  • Type 1 or type 2 diabetes of your mother may interfere with the development of your heart. But gestational diabetes generally doesn’t increase the risk of developing a heart defect.
  • Taking certain medications while pregnant can cause congenital heart and other birth defects. These medications may include isotretinoin and lithium. Drinking alcohol while pregnant increases the risk of heart defects as well.
  • It seems that CHD runs in families and has association with many genetic syndromes. For example, children with Down syndrome often have heart defects.
  • A mother who smokes while pregnant increases her risk of having a child with a congenital heart defect.


Complications of CHD may occur years after the initial treatment, including:

  • Abnormal heart rhythms (arrhythmias).
  • Heart infection (endocarditis).
  • Stroke.
  • Heart failure.
  • Pulmonary hypertension.
  • Heart valve problems.


After taking a medical history and conducting a physical exam, your doctor will order the following tests:

  • Electrocardiogram (ECG).
  • Chest X-ray.
  • Echocardiogram.
  • Transesophageal echocardiogram.
  • Pulse oximetry.
  • Exercise stress test.
  • Cardiac CT scan or MRI.
  • Cardiac catheterization.


Treatment option you adopt should depend on the type and severity of your CHD. The goal of treatment is to correct the congenital heart defect or improve complications. Treatment may include:

  • Watchful waiting.
  • Medications.
  • Implantable heart devices.
  • Special procedures using catheters.
  • Open-heart surgery.
  • Heart transplant.

Keyword: congenital heart defects

Leave a Reply