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Congenital Heart Disease

There are many types of congenital heart defects, which are problems in the construction of the heart that are present at birth. Defects can range from simple anatomy irregularities with no symptoms, to complex defects with severe, life-threatening symptoms. Some of the more common defects include:

  • Aortic Valve Stenosis (AVS)
  • Atrial Septal Defect (ASD)
  • Coarctation of the Aorta (CoA)
  • Complete Atrioventricular Canal Defect (CAVC)
  • d-transposition of the Great Arteries
  • Ebstein's Anomaly
  • Hypoplastic Left Heart Syndrome
  • I-transposition of the Great Arteries
  • Patent Ductus Arteriosus (PDA)
  • Pulmonary Atresia
  • Pulmonary Valve Stenosis
  • Single Ventricle Defects
  • Tetralogy of Fallot
  • Total Anomalous Pulmonary Venous Connection (TAPVC)
  • Tricuspid Atresia
  • Truncus Arteriosus
  • Ventricular Septal Defect (VSD)

About 40,000 babies in America are born with heart defects each year, making it one of the most common kinds of birth defects. Only about 25 percent of those children will need surgery or other intervention in their first year. In most cases, patients with heart defects just need continued medical monitoring.

Research continues on what, exactly, causes heart defects, but doctors believe that both genetics and environmental factors affect fetal heart development.


Some heart defects have no symptoms and are never even detected. Other times there are some signs that may indicate a heart defect, like rapid breathing; a bluish tint to the skin, nose, and fingernails; fatigue; and poor blood circulation. Babies may also experience difficulty gaining weight, swollen belly or legs, puffiness around the eyes, and difficulty breathing or sweating while eating.

Most heart defects are diagnosed at birth or during a routine baby check-up. Older children may be diagnosed if they show symptoms like unexplained fatigue or difficulty breathing during exercise. Symptoms can progress to the point of causing heart failure, which includes problems like trouble breathing, build-up of fluid in the lungs, and unexplained swelling in the ankles, feet, legs, abdomen, and neck veins.

Causes / Risk Factors

Some hereditary cardiac birth defects, and some genetic conditions, like Down syndrome, can include heart problems. Smoking, obesity, and diabetes in the mother are also linked to some defects. But in many cases, doctors don’t know what causes these abnormalities in the heart.

As children with heart defects grow into adults, they face some additional medical risks that need attention. For example, those with problems like a heart murmur may be at risk for infective endocarditis, an infection of the layers of heart muscle. Those patients take antibiotics before dental work or surgical procedures. Heart rhythm disorders (arrhythmia) and high blood pressure (hypertension) are also risk factors for those with heart defects, and patients with heart defects who develop diabetes, high cholesterol, and obesity need special monitoring. Some patients with single ventricle heart defects may have increased risks of liver problems.


If a doctor suspects a heart defect, either in a child or an adult, he or she will order certain tests to confirm a diagnosis.

Some tests used to look for heart defects include:

  • X-rays – Pictures taken with a tiny amount of radiation.
  • Electrocardiogram (ECG or EKG) - A test that measures the electrical activity of the heartbeat.
  • Echocardiogram – An ultrasound movie of the inside of the heart.
  • Cardiac catheterization – A minimally invasive procedure that allows the cardiologist to get direct information about the blood pressure and the heart’s blood flow.
  • Angiogram – An X-ray movie that's taken while a special dye is injected into a cardiac chamber or major blood vessel.
  • Magnetic Resonance Imaging (MRI) – An image using magnet waves to look at the blood vessels connected to the heart and lungs.
  • Computed Tomography (CT) scan – Multiple X-ray images to give a more detailed picture of the heart and lungs.
  • Transesophageal echocardiogram (TEE) – A special type of ultrasound movie of the heart done through a tiny camera inserted through the mouth.
  • Holter monitor – A small device that records heartbeats for 24 hours. LEARN MORE
  • Event monitoring – A small device that just records when you have symptoms. 
  • Implantable loop recorder – A tiny device that records your heart rhythm for up to 14 months. LEARN MORE
  • Exercise stress testing – A test of heart rhythm and stamina while you exercise
  • Electrophysiology study (EP study) – A specialized cardiac catheterization that looks at the heart's electrical or rhythm function instead of its blood flow.

A fetal echocardiogram can be done on a baby in utero to look for suspected heart problems. Babies who have been diagnosed before they are born will need special care at birth.

Treatment Options

Some defects do not need intervention. Others can be addressed with a minimally invasive procedure called cardiac catheterization. In some cases, open-heart surgery is needed to correct the defect. In rare cases, babies with severe defects may need a heart transplant. Your Erlanger team will discuss the best options for your particular case and needs.

If a baby is diagnosed with a heart defect in utero, there are preparations for delivery that will help address the defect immediately at birth.


The results of heart defect intervention depend on the severity of the defect, the complexity of the treatment, and the condition of the patient. Most people with heart defects live well into adulthood because of advances in diagnosis and treatment. If you are diagnosed with a heart defect, regular medical monitoring of the condition is an important part of treatment.


Some choices you make when pregnant - like smoking, alcohol use, uncontrolled diabetes, and obesity - can affect your baby’s chances of having a heart defect. Tell your doctor about any over-the-counter, prescription, or herbal medication you may be taking, as some of these may also contribute to heart defects.

If you have a family history of heart defects, you may want to talk to your doctor about genetic counseling. Some special testing can show the probabilities of passing some defects on to your children.

Erlanger Resources for Congenital Heart Disease (Heart Malformations)

Erlanger is on the forefront of cardiology therapies for adults and children. The following resources are available for patients with congenital heart disease (heart malformations).