Diagnoses and Treatments

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Adult Congenital Heart Disease

Adult Congenital Heart Disease

What is adult congenital heart disease? Adult congenital heart disease (ACHD) is an umbrella term for conditions you’re born with that affect your heart’s structure. “Congenital” means that the defect forms while the fetus develops and is present at birth. These conditions impact blood flow through your heart. They’re also called congenital heart defects. Congenital heart diseases range from mild to serious. Depending on the type of heart disease and its severity, people may not notice any symptoms until they reach adulthood. Other people never notice symptoms at all. And others have these conditions treated as children, only to have symptoms of long-term manifestations as adults. Advances in diagnosis and treatment have improved outcomes for people with ACHD. More than 90% of people with ACHD treated as children live into adulthood. Whether your ACHD diagnosis happens when you’re a child or an adult, you’ll still need lifelong medical care to help monitor your condition.

What parts of the heart can adult congenital heart disease affect? Congenital heart diseases can affect any of the structures of your heart, including: Blood vessels: Your heart’s blood vessels move blood throughout your body. Arteries transport oxygen-rich blood from your heart to your body’s tissues. Veins transport oxygen-poor blood back to your heart. Heart chambers: Your heart chambers manage your heartbeat and blood flow. You have two chambers on the top (right and left atria) and two chambers on the bottom (right and left ventricles). A wall of tissue (septum) separates the chambers. Heart valves: Your four heart valves let blood flow through your heart. These valves include the aortic valve, mitral valve, pulmonary valve and tricuspid valve.

What are the types of adult congenital heart disease? The most common types of adult congenital heart disease include: Blood vessel defects If your blood vessels are too narrow at certain points, your heart has to work harder to pump blood. The vessels may also link incorrectly, sending oxygen-poor blood to the body or oxygen-rich blood to the lungs. Common blood vessel defects include: Aortic coarctation. Patent ductus arteriosus (PDA). Pulmonary artery stenosis. Transposition of the great arteries, when two main arteries leaving the heart are reversed. Anomalous pulmonary venous return. Heart valve defects Your heart valves can be too narrow, not close properly, be completely closed or be misshapen. These conditions make it hard for your heart to pump blood through your body. Common heart valve defects include: Bicuspid aortic valve disease. Ebstein’s anomaly. Mitral valve prolapse (MVP). Septal defects These defects are holes in the wall of tissue between the two upper chambers (atria) or the two lower chambers (ventricles) of the heart. They cause oxygen-rich blood from the lungs to mix with oxygen-poor blood from the body. This means blood leaving the heart may have less oxygen than usual. Common septal defects include: Atrial septal defect (ASD). Patent foramen ovale (PFO). Ventricular septal defect (VSD).

Who might have adult congenital heart disease?

People of all sexes, ages and races can have adult congenital heart disease. Women have a higher incidence of some conditions including atrial septal defect, mitral valve prolapse and patent ductus arteriosus. Men have a higher incidence of other conditions including aortic coarctation, tetralogy of Fallot and transposition of the great arteries. Some congenital heart defects are more common in people with genetic syndromes, like Down syndrome or Turner syndrome.

 

How common is adult congenital heart disease?

About 1.4 million adults in the U.S. have congenital heart disease. The number of people with ACHD continues to increase by about 5% each year.

 

What causes adult congenital heart disease?

Researchers aren’t sure exactly what causes adult congenital heart disease. Some ACHD may get passed down through families (inherited). In many cases, ACHD appears in conjunction with genetic diseases or disorders, such as Down syndrome and Turner syndrome.

You may also have a higher risk of ACHD if your birthing parent:

Had rubella or influenza (flu) during the first three months of pregnancy.

Had Type 1 diabetes or Type 2 diabetes.

Took certain medications for acne, bipolar disorder or seizures.

Took ibuprofen when 30 weeks or more pregnant.

 

What are the symptoms of adult congenital heart disease?

The signs and symptoms of ACHD vary depending on:

Age.

Number of heart defects.

Severity of the heart disease.

Type of ACHD.

Some people with ACHD don’t have any symptoms. If you do have symptoms, they may include:

Bluish fingernails, lips and skin (cyanosis).

Dizziness.

Fatigue, including getting tired quickly with activity.

Heart murmur.

Heart palpitations.

Irregular heart rhythms (arrhythmia).

Shortness of breath (dyspnea).

Swelling (edema) of the ankles, feet or hands.

 

How is adult congenital heart disease diagnosed?

Your healthcare provider will first ask about your symptoms and medical history. They will do a physical exam and listen to your heart with a stethoscope.

Your provider will use tests such as:

 

Cardiac catheterization, which can also be a treatment.

Chest X-ray.

Echocardiogram (echo).

Electrocardiogram (EKG).

Exercise stress test.

Heart MRI and heart CT scan.

Pulse oximetry.

Transesophageal echocardiogram (TEE).

 

How is adult congenital heart disease treated?

Some minor congenital heart defects may not need treatment. But you will still need regular heart checkups to make sure your condition isn’t getting worse.

ACHD treatment depends on the type and severity of the condition and may include:

Medications: Certain drugs can help your heart work better, including:

ACE inhibitors and calcium channel blockers.

Anticoagulants.

Beta-blockers.

Water pills (diuretics).

Implantable heart devices: Your provider may implant a device to control your heart rate (pacemaker) or fix an irregular heartbeat (implantable cardioverter defibrillator or ICD).

Cardiac catheterization: During cardiac catheterization, your provider inserts a thin tube (catheter) through a blood vessel in your groin. They guide the catheter to your heart. This procedure can help repair atrial septal defects. Your provider may also use a catheter with a tiny balloon to widen arteries (angioplasty) or valves (valvotomy).

Surgery: Your surgeon may perform heart valve surgery to repair or replace one or more of your heart valves. This can be open-heart surgery or minimally invasive heart surgery. Your surgeon can also fix more complex congenital heart defects through heart surgery.

Heart transplant: People with life-threatening congenital heart disease may need a complete heart transplant.

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