Adult Congenital Heart Disease

What is adult congenital heart disease?

Adult congenital heart disease, or ACHD for short, is a broad term applied to problems with the heart structure present since birth. ACHD impacts the way blood flows through the heart. Congenital heart disease can be diagnosed in both children and adults. Diagnosis can be made before or after birth or even into adulthood. 

ACHD can be mild, with only simple care needed throughout an individual’s life. Other cases may be life-threatening and require lifelong cardiac care, including medications and surgery. Great advances have been made in improving life expectancy for adult congenital heart disease, but it's critical to maintain specialized monitoring under the care of your physician.

What are congenital heart disease symptoms?

ACHD symptoms vary depending on the nature of the heart defect. Symptoms of congenital heart disease may range from shortness of breath, chest pain, and irregular heart rhythms (known as cardiac arrhythmia) to fatigue and swelling throughout the body. It is essential to discuss any new or worsening symptoms with a doctor after a congenital heart disease diagnosis. 

Complications from ACHD

Without proper care and treatment of ACHD, individuals are at a higher risk of developing complications, including:

• Heart arrhythmia. Heart arrhythmia is an irregular heartbeat. It could result from many aspects of heart defects, including scar tissue around the heart. It could require medication, surgeries, or devices such as a pacemaker to correct.
• Heart failure. Heart failure is diagnosed when the heart is too weak to pump enough blood correctly or fill up with the right amount of blood. It is a chronic condition affecting one or both sides of the heart. 
• Pulmonary hypertension. Pulmonary hypertension occurs when blood pressure is too high in the blood vessels between the heart and lungs. 
• Heart infection. Congenital heart disease puts an individual at greater risk of a heart infection, such as endocarditis, which affects the heart's inner lining. 
• Stroke. A congenital heart defect could cause a blood clot in the heart and eventually the brain. The result is blocked blood supply, which could cause disability or death. 

Females diagnosed with congenital heart disease may face greater risk of complications during pregnancy when additional pressure is placed on the cardiovascular system. These risks can impact both the mother and unborn child. It is vital to discuss the impact of pregnancy and congenital heart disease with your doctor.

Request an appointment with the heart specialists at Mass General Brigham and learn more about diagnosis and management of adult congenital heart disease.

Types of congenital heart disease in adults

Examples of congenital heart defects seen in adults include:

• Atrial septal defect: A hole in the heart located between the upper two chambers, the atria
• Ventricular septal defect: A hole in the heart located in the wall between the ventricles, or two lower chambers of the heart
• Bicuspid aortic valve: A condition where the aorta only has two “cusps” controlling blood flow, instead of the usual three, which can cause damage to the valve over time
• Pulmonary stenosis: When the pulmonary valve does not grow as it should and causes a blockage in blood flow from the right ventricle to the lungs
• Tetralogy of Fallot: This condition occurs when there is a combination of four congenital heart defects present at once—pulmonary stenosis, ventricular septal defect, right ventricular hypertrophy, and a shifting of the aorta

What are adult congenital heart disease causes?

Congenital means the condition was present at birth. It is possible to inherit a heart condition or defect. Congenital heart defects might not be diagnosed until later in life, and the root cause of the condition may never be identified. 

Certain conditions during pregnancy can put an unborn child at higher risk of a congenital heart defect. If the mother receives a German Measles diagnosis or Type 1 or Type 2 diabetes during pregnancy, the baby could be at risk of developing a heart problem.

Some medications taken during pregnancy can also increase the risk. It's critical to discuss any medications taken during pregnancy with your doctor. Both alcohol consumption and smoking during pregnancy are linked to a higher chance of congenital heart defects in the baby.  

What are the risk factors of congenital heart disease?

In most cases, there is no known cause for congenital heart disease, but it is generally considered to be an inherited condition. Certain environmental and genetic risk factors might play a role in the development of congenital heart disease, including:

• Genetics: Congenital heart disease can run in families (inherited) as well as be caused by genetic conditions such as Down syndrome and Turner syndrome
• Illness during pregnancy: Conditions like diabetes (type 1 or 2), or a viral infection like rubella that co-exist while pregnancy can lead to congenital heart disease
• Substance use during pregnancy: Drinking alcohol or smoking while pregnant increases the risk of heart defects in the baby

How is adult congenital heart disease diagnosed?

Congenital heart disease may be diagnosed in the womb before birth, as a child, or as an adult. Before testing, a doctor will perform a physical examination and listen to the heart through a stethoscope. 

A variety of tools can help determine the presence of a congenital heart defect. Some of the tests are the same for children and adults. Tests can include stress tests while walking on a treadmill or riding a bike. 

Imaging tests can include a positron emission tomography (PET) scan, chest X-ray, electrocardiogram (EKG or ECG), or an echocardiogram (an ultrasound of the heart). In other cases, a magnetic resonance imaging (MRI) or heart computed tomography (CT) scan may be needed for more detailed images of the heart. 

Cardiac catheterization is another possible test involving injecting dye into a catheter inserted into a blood vessel. Several heart functions can be examined once the catheter is in place. 

What is adult congenital heart disease treatment? 

ACHD treatment may start in childhood and continue throughout the individual’s life. The heart defect and severity determine the exact treatment protocol for adult congenital heart disease.

Medications may be prescribed for managing heart defects, including anticoagulants for blood clots or medicine for irregular heartbeats and high blood pressure. Congenital heart defects can be managed in adulthood with regular monitoring and medications.

Living with adult congenital heart disease

A congenital heart defect may not be cured, even with repair as a youth or young adult. Surgical repairs can require additional medications, procedures, or surgeries as an adult. Living with adult congenital heart disease is possible but requires lifelong monitoring, maintenance, and care.