Congenital Heart Defects: Symptoms & Treatments

Welcoming a new baby into the world is an exciting time for parents. But what happens when you notice something is not quite right with your bundle of joy? Dozens of possibilities may swirl through your head. Maybe they are having trouble feeding or not gaining weight as they should. Does their skin have a bluish tint? Do they rapidly breathe when feeding? Could the signs point toward a heart problem?

One concern may be a congenital heart defect (CHD), which is the most common type of disability present at birth. They affect nearly 1% of births, or 40,000 babies, in the U.S. annually.

“If your child has a CHD, you may wonder about their future,” said Jason Sherer, MD, Catholic Health Cardiologist. “However, with early detection and advances in diagnosis and treatment, people with heart defects live full, healthy lives. Your child can, too.”

What are the symptoms of congenital heart defects?

A congenital heart defect is a heart abnormality present at birth that can affect the structure and function of a baby’s heart and change how the heart pumps blood.

Dr. Sherer explained that parents usually notice symptoms shortly after birth or during the first months of their newborn’s life. However, some heart defects get diagnosed later in childhood or adulthood.

The signs and symptoms of a congenital heart defect show up differently in different age groups.

Newborns

The most common symptoms of a congenital heart defect in newborns include:

• Bluish skin tone (cyanosis)
• Difficulty breathing
• Excessive sweating during feeding
• Poor weight gain
• Rapid breathing

A routine ultrasound can detect a heart defect during pregnancy.

Childhood

Some symptoms of CHDs show up later in childhood. These symptoms can include:

• Delayed growth
• Frequent chest infections
• Getting tired easily during activity or exercise
• Shortness of breath during physical activity
• Swelling in the ankles, feet or hands

“If you are concerned that your newborn or child is showing signs of a congenital heart defect, call your pediatrician to evaluate symptoms,” said Dr. Sherer. “They can recommend you to a cardiologist who can order testing to confirm a diagnosis and begin treatment.”

Adulthood

Although it is rare, the symptoms of some congenital heart defects can go unnoticed and undiagnosed until adulthood. Keeping up with your annual physical exam can help detect a heart defect before it causes further complications.

Symptoms of CHDs that appear in adulthood include:

• Fatigue
• Irregular heartbeats (palpitations)
• Swollen ankles or feet (edema)

What are the common types of congenital heart defects?

Several types of congenital defects can affect the heart. They can vary from mild to severe, ranging from a small hole to missing parts of the heart. Each CHD affects how blood flows through the heart to other parts of your body.

Heart malformations

A heart malformation is when the heart has an abnormal structure. These defects can include issues with the blood vessels or heart valves. Heart malformations can keep blood from flowing normally, and severe malformations can be life-threatening. Many have few or no symptoms, or symptoms do not appear until adulthood.

Septal defects

Septal heart defects are holes that affect blood flow from the upper and lower parts of the heart.

An atrial septal defect is a hole in the wall separating the heart's top two chambers. The hole lets blood that has already picked up oxygen mix with blood that still needs it. When too much blood flows to the lungs, it makes a swishing sound called a heart murmur.

“A cardiologist should evaluate heart murmurs to avoid further complications,” said Dr. Sherer.

A ventricular septal defect is a hole in the wall separating the heart’s lower chambers. The hole lets blood with oxygen return to the lungs instead of going to the rest of the body. When blood with oxygen mixes with blood without it, it increases blood pressure in the lungs, making the heart work harder to pump blood.

Small septal defects may close on their own. Medium or large holes may require surgery.

Valve defects

A valve defect affects the way heart values work. The heart has four valves that open and close to ensure blood flows in the right direction. Moderate to severe valve defects may need surgery.

Pulmonary valve stenosis is a thickened or stiff valve that does not open fully, slowing blood flow. It is the most common valve defect in newborns. In adults, it can be a complication from another illness. Mild cases often do not have symptoms.

Aortic valve stenosis occurs when the aortic valve narrows and limits blood flow. The heart needs to work harder to pump blood, and this condition can cause damage to the heart over time.

Transposition of the great arteries

Transposition of the great arteries (dextro-transposition or d-TGA) is a congenital heart defect where the two arteries that carry blood away from the heart are transposed (reversed). A baby is typically diagnosed before birth, and surgery is required within the first week of life.

What are the treatment options for congenital heart defects?

“Treatment for a congenital heart defect depends on the severity of the abnormality,” said Dr. Sherer. “Mild defects often heal over time and do not require treatment. Critical congenital heart defects, the most severe type, often require treatment.”

Advancements in CHD treatment

Dr. Sherer noted that although there is no cure for congenital heart defects and understanding the risk of congenital heart defects is still being studied, the good news is that recent advances in treatment are helping to repair heart defects and improve heart function, which improves patients' health outcomes.

For example, advances in 3D imaging provide a highly detailed view of a patient’s heart, which allows a cardiologist to decide on the most effective treatment method for a heart defect.

Medication for CHDs

Medication can help manage symptoms and improve heart function.

• ACE inhibitors allow the blood vessels to relax so there is a wider opening for blood to flow through.
• Antiarrhythmic drugs prevent and treat abnormal heart rhythms, such as atrial fibrillation (AFib).
• Cardiac glycosides improve heart function by improving different functions of the cardiovascular system, such as heart rate and cardiac output.

Minimally invasive procedures for CHDs

Cardiac catheterization is the most common minimally invasive procedure for repairing simple heart defects, such as an atrial septal defect. A cardiac surgeon inserts a thin tube called a catheter into a blood vessel and then threads the tube to the heart, enabling the opening of a narrowed artery and checking the blood vessels for clots.

Surgical treatments for CHDs

Surgery may be necessary to treat complex congenital heart defects. Surgeons can repair holes in the heart from septal defects, widen narrowed blood vessels or replace faulty valves. About half of CHDs require open heart surgery, which may include multiple surgeries over many years.

For all congenital heart defects, even minor, routine follow-up care with a pediatrician, primary care physician (PCP) or pediatric cardiologist is necessary to ensure the heart continues functioning normally.

Why is early diagnosis important for congenital heart defects?

Dr. Sherer explained that adults with congenital heart defects often do not realize they have one. 

“For children and adults, getting an accurate diagnosis to confirm a heart defect allows treatment to start as soon as possible and helps to avoid complications that can cause other health conditions,” said Dr. Sherer. "For newborns especially, an early diagnosis and treatment can help prevent disability or death.”

He recommends calling your PCP or pediatric cardiologist immediately if you or your child have symptoms that may indicate a heart condition.