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Genetic Heart Conditions

Everyone inherits half of their genes from each parent. Your genes are a code telling every cell in your body what to do. Sometimes, errors or variations in those coded instructions can lead to heart disease. Because the genes are passed on in families, it's possible to inherit some kinds of heart disease from your parents and pass them on to your children.

Is heart disease genetic?

It depends. Some heart diseases, like Brugada syndrome, are caused by specific genetic variations that create specific hereditary heart problems. Others, like Marfan syndrome, have specific mutations that don't directly cause heart disease but lead to heart disease because of the way the disease affects heart tissues.

Still others are heart diseases with genetic factors but without a specific genetic "on/off" switch. These heart diseases may result from the interaction of many genes, so no single gene "causes" the heart disease. Instead, having certain genetic variants raises your likelihood of developing the hereditary heart condition, but not everyone carrying the gene will contract the disease. In these cases, lifestyle factors may be able to compensate for the genes you've inherited and lower your risk of the disease.

What percentage of heart disease is genetic?

It depends on the individual disease. For example, familial cardiac amyloidosis or hypertrophic cardiomyopathy is generally genetically determined, and the only way to get it is by inheriting or developing a faulty gene. Coronary artery disease, by contrast, is estimated to be roughly 40-60% genetic, with lifestyle factors responsible for the rest.

Types of genetic heart disease

Heart diseases with genetic causes typically fall into one of several categories.

Arrhythmias are disorders that cause an irregular or abnormal heartbeat. Examples of hereditary arrhythmic heart disorders include:

  • Brugada syndrome
  • Catecholaminergic polymorphic ventricular tachycardia (CPVT)
  • Long QT syndrome (LQTS)
  • Short QT syndrome (SQTS)
  • Sudden arrhythmic death syndrome

Cardiomyopathy is a broad term for heart disorders that affect the heart muscle. It includes both inherited and non-inherited heart diseases. Hereditary cardiomyopathies include:

  • Arrhythmogenic right ventricular cardiomyopathy (ARVC)
  • Hypertrophic cardiomyopathy (HCM)
  • Idiopathic or familial dilated cardiomyopathy (DCM)
  • Restrictive cardiomyopathy

Some inherited heart conditions affect the structure of the heart or its tissues. They may cause problems because the heart itself isn't built normally, or the body may behave in ways that cause heart problems. Examples include:

  • Cardiac amyloidosisWhen the body overproduces specific proteins, they travel in the blood and deposit in the heart (or other organs). Eventually, the deposits build up, which can cause the affected organ to stop working correctly.
  • Heart valve diseaseSome diseases that affect the heart valves are inherited. For example, a bicuspid aortic valve has two cusps—the flaps that form the valve—instead of three. This structural mistake is an inherited heart condition.
  • Loeys-Dietz syndrome and Marfan syndrome: These disorders affect your body's connective tissue. As a result, ligaments and tendons throughout the body form incorrectly. When the heart's connective tissue is affected, it can cause conditions like mitral valve prolapse or an enlarged aorta.

Symptoms of hereditary heart disease

Heart disease is a broad category of disorders. As a result, the symptoms of genetic heart conditions vary widely, depending on the specific condition. Common symptoms include:

Causes of genetic cardiac disorders

Every cell in your body carries your DNA, which is made up of genes. Genes are like a blueprint, telling your cells what to do and how to build and maintain your body's organs and structures. You get half of your genes from each parent.

Sometimes, there are mistakes or problems in the genes you inherit from your parents. Those faulty genes give your body incorrect instructions, which can cause disease. When that happens, it's called a genetic or hereditary disease. Typically, the parent who gave you the faulty gene also has the gene, but occasionally, there are new changes—called mutations—that occur without a family history.

Diagnosing genetic heart disease

The appropriate diagnostic tool for genetic heart disease depends on the condition. In general, the first step is a physical exam where your doctor asks questions about your symptoms, medical history, and family history. They'll also listen to your heart, take your pulse, and measure your blood pressure.

Your doctor may also request medical imaging or heart performance tests to diagnose your condition, including:

  • Chest X-ray: A chest X-ray can show your heart and lungs and help the doctor spot problems like an enlarged heart.
  • CT scan: This type of scan uses a computer to combine multiple X-ray images for a three-dimensional view of the heart.
  • Echocardiogram: An "echo"—as it's often abbreviated—uses an ultrasound wand to show your heart in real time. The doctor can see your heart beating and watch the flow of blood on an echo.
  • Electrocardiogram (EKG/ECG): An EKG uses electrodes to measure your heart's electrical activity. It can show irregularities in your heartbeat that may be signs of heart disease.
  • MRI: An MRI uses magnet fields to generate a highly detailed image of the heart.
  • Stress testing: Your doctor may measure your heart's performance while you walk on a treadmill or ride a stationary bike. Seeing how the heart performs during activity can help them diagnose genetic heart conditions.

Genetic testing for cardiovascular disease

For some genetic cardiac disorders, you may be able to take a genetic test to see if you carry a known faulty gene. To perform the test, your doctor will need a DNA sample, such as a blood sample or strand of hair. They'll send it to a lab to look at specific genes associated with a heart condition to see if you have the normal gene or the faulty one.

Genetic testing is usually paired with genetic counseling, which can help you make sense of the test results emotionally and rationally. If your results come back positive—meaning that you have a faulty gene—it doesn't always mean that you'll develop heart disease. You may simply be at a higher risk. A genetic counselor can help you talk to family members about the news, an essential step since relatives will also be at higher risk of heart disease if there's a confirmed genetic heart disorder in the family.

Treating hereditary heart problems

Like diagnostic tools, treatment options for hereditary heart problems vary according to the condition. Most heart conditions will require lifestyle changes to reduce risk and complications. Some conditions can be treated with medication, and others may require surgery.

Often, lifestyle factors have a substantial impact on whether you develop heart disease and how you manage it. If you're diagnosed with a genetic heart disorder or at risk for one, heart-healthy lifestyle choices can help you reduce the condition's impact:

  • Diet: A heart-healthy diet is low in salt, sugar, and fat. Eat lots of fresh fruits and vegetables and choose lean proteins over fattier ones.
  • Exercise: A sedentary lifestyle increases your risk of heart problems. Get plenty of exercise. If you've been diagnosed with a heart condition, talk to your doctor before starting any training program to make sure your new exercises are safe for your heart.
  • Drug use: Avoid tobacco, alcohol, and illegal drugs, all of which increase your risk of heart disease.
  • Stress: Too much stress can raise your blood pressure and strain your heart. Manage your stress and blood pressure.
  • Other conditions: Get adequate treatment for conditions that may affect your heart, like diabetes. Managing any other conditions effectively can reduce your risk of heart disease.

Depending on the kind of hereditary heart disease you have, you may be prescribed medications including:

  • Antiarrhythmics: These medicines help your heart maintain a regular rhythm.
  • Anticoagulants: Blood thinners reduce your blood's ability to clot and can help prevent strokes.
  • Blood pressure medicines: A wide variety of medications, including beta-blockers, ACE inhibitors, and ARBs, help lower blood pressure.
  • Cholesterol medication: Some medicines can help lower your cholesterol, reducing the risk of heart disease.
  • Diuretics: These medications help your body maintain the right amounts of water and electrolytes.

Depending on the condition you have, you may need surgery, including:

  • Bypass surgery
  • Catheter ablation to reduce arrhythmia
  • Heart valve repair or replacement
  • Heart transplant
  • Implanted devices (such as pacemakers or defibrillators) to help your heart maintain a rhythm or restart after cardiac arrest

FAQs about genetic heart disease

Some of them are. Depending on the condition, it may be directly caused by a specific gene or set of genes. Other genetic heart conditions are caused by a mix of genetic factors and lifestyle choices.

Hypertrophic cardiomyopathy is the most common genetic heart condition.

Yes. Many cardiovascular diseases have a genetic component.

It depends on the disease. Some genetic heart diseases, like certain arrhythmic disorders, have a well-established genetic test. Others are known to have a genetic component, but it's not clear what gene is responsible, and no genetic test exists.

It depends on the disease. Some genetic heart diseases, like certain arrhythmic disorders, have a well-established genetic test. Others are known to have a genetic component, but it's not clear what gene is responsible, and no genetic test exists.