Congenital means present at birth, and congenital heart defects affect about 40,000 births per year in the United States. Some defects, however, go undetected until later in life. Learn more about some types of congenital heart defects that affect adults, their symptoms, diagnosis and treatment, and follow-up care.

Congenital heart defect defined and types of defects

A congenital heart defect, also called congenital heart disease, results from the heart’s structure not forming normally before birth. Heart malformations can affect the circulatory system and can cause life-threatening complications in some cases.

There are at least 18 distinct types of congenital heart defects. Summit Health Cardiology team member Lori Attanasio, PA-C, says the defects found more commonly in adulthood include ventricular septal defect, atrial septal defect, and patent foramen ovale.

A ventricular septal defect (VSD) is a hole in the wall (septum) that separates the heart’s two lower chambers (ventricles). In a heart without this defect, its right side pumps blood to the lungs, and the left side pumps blood to the rest of the body.

The presence of a VSD means blood moves from the left ventricle through the hole and to the right ventricle. This abnormal blood flow forces the heart and lungs to work harder, and symptoms may include rapid heartbeat, fast breathing, and fatigue. Possible complications include an inflammatory condition known as endocarditis, high blood pressure in the lungs (pulmonary hypertension), and heart failure.

An atrial septal defect (ASD) also is a hole in the septum—in this case, separating the heart’s two upper chambers (atria). Since the hole can increase blood flow, the heart and lungs can be strained and possibly damaged.

Symptoms of ASD can include shortness of breath, fatigue, swelling of the legs and feet, and skipped beats known as heart palpitations. Another symptom is a heart murmur, an extra sound made by the heart described as “swishing” or “whooshing” and caused by turbulent blood flow. Possible complications of ASD include pulmonary hypertension, heart failure, and increased risk of stroke.

Patent foramen ovale (PFO): The foramen ovale is a small, flaplike opening between the heart’s atria, and it’s supposed to close after birth. When it doesn’t, it’s known as a patent (or open) foramen ovale. Possible complications of PFO include low blood oxygen and stroke, and some studies point to an association between PFO and migraines.

In most cases, the cause of a congenital heart defect isn’t clear. Research over the years, however, has shown factors that may play a role, including genetics and issues that may affect a baby’s development, such as the mother having rubella or Type 1 or Type 2 diabetes during pregnancy, or using alcohol or smoking while pregnant.

Diagnosis and treatment

“If you’re experiencing symptoms of a congenital heart defect, seek evaluation from a cardiologist, especially if there’s a family history,” Ms. Attanasio says.

Atrial and ventricular septal defects are often found when a doctor hears a murmur while listening to the heart through a stethoscope. If other symptoms are present, a patient will undergo further tests, including an electrocardiogram or echocardiogram, among others.

Ms. Attanasio notes a doctor may use a type of echocardiogram called bubble echocardiogram to diagnose patent foramen ovale. This test uses a sterile solution injected into a vein to see whether bubbles appear on the left side of the heart.

Treatment for these congenital heart defects depends on several factors, including the severity of symptoms, the size of the defect, and your age. Sometimes surgery is recommended to close the hole and relieve symptoms. Usually, surgery for patent foramen ovale isn’t needed.

Living with a congenital heart defect

Ms. Attanasio says ongoing, regular follow-up care is important following a congenital heart defect diagnosis. Care includes having routine echocardiograms, taking medications as prescribed, and staying up to date on recommended vaccines. Other topics to discuss with a cardiologist include physical activity and pregnancy considerations.

An estimated 1.4 million adults in the United States were living with a congenital heart defect in 2010, according to a 2016 study published in the journal Circulation. As diagnostic methods, treatments, and patient resources advance, so does the outlook for adults living with this condition.