Is Heart Disease Genetic?

We inherit a lot of things from our parents, from the color of our eyes to whether we have dimples or freckles. The same goes for many health conditions, including some forms of heart disease. Which heart conditions are related to your genes? How do you know if you’re at risk? And if a heart problem runs in your family, is there anything you can do about it? We looked at the research and talked to our experts to gather the info you need.

Can you get heart disease from your parents? Short answer: Sometimes. Our parents can pass along gene mutations, or variants, that can boost our risks of certain diseases, including many forms of heart disease. Researchers have identified many of these gene mutations, some of which directly affect the heart, for example by impacting its rhythms. Other mutations can increase the risk of conditions that then may lead to heart disease.

“It’s important to know if there are patterns of disease that run in the family,” says Aeshita Dwivedi, M.D., a cardiologist at Lenox Hill Hospital in New York City. Understanding your own family health history, as well as which heart conditions are inherited, can help you make informed decisions about your health care and lifestyle.

An estimated one third to one half of your risk for coronary artery disease (CAD), the most common type of heart disease, can be traced to your genes, according to a 2022 study in Nature Medicine. Many of those genes are linked to common CAD risk factors like high blood pressure and high lipids, or fats, in the blood (a.k.a. high cholesterol).

Heart attacks can also run in families, Dr. Dwivedi points out. “If you have a male family member who had a heart attack before age 55 or a female family member who had a heart attack before age 65, then it’s considered family history of atherosclerosis or coronary artery disease,” she says. According to the Centers for Disease Control and Prevention (CDC), if your father, mother, brother, or sister had a heart attack before age 50, your risk of not only heart disease (which includes heart attacks) but also stroke is increased.

Gene mutations that directly impact the heart generally fall into two categories: Those that affect the physical structure of the heart, and those that affect the heart’s rhythm, explains Robert Myerburg, M.D., a cardiac electrophysiologist (a cardiologist with extra training in the electrical activity of the heart) and a professor of medicine at the University of Miami Miller School of Medicine in Florida.

Structural heart problems caused by gene mutations include:

• Bicuspid aortic valve disease

• Dilated cardiomyopathy

• Hypertrophic cardiomyopathy

• Transthyretin cardiac amyloidosis

Problems with the heart’s rhythms (arrhythmias) caused by genetic mutations include:

• Brugada syndrome

• Long QT syndrome

• Wolff-Parkinson-White syndrome (WPW)

Let’s dive a bit deeper into these and other heart conditions with a genetic component.

Bicuspid Aortic Valve Disease

Blood gets pumped out of your heart and into your aorta, your body’s biggest artery, through the aortic valve in your heart’s lower left chamber. A normal aortic valve has three cusps, or flaps, that open and close with each heartbeat. In people with this disease, there are only two cusps. This can cause various problems including reduced blood flow from the heart, or blood flowing backward in the heart. The most common heart defect, a bicuspid aortic valve affects up to 2% of the population, according to the Cleveland Clinic, and it can lead to heart failure. In some cases, it can be treated with surgery.

Dilated Cardiomyopathy

This disease, which can be genetic, enlarges your heart’s main pumping chamber, the left ventricle. This thins and stretches it, which makes it weaker and less able to pump a healthy amount of oxygen-rich blood to the rest of your body. Your heart’s other chambers also may be affected by the disease, which can lead to heart failure, heart valve disorders, arrhythmias, and blood clots, according to the American Heart Association.

Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is one of the more common structural genetic heart diseases, says Dr. Dwivedi. In this disease, a gene mutation causes the walls of the heart to grow thicker than they should. Many people with this disease will have no symptoms and will not be troubled by it. However, in some it can cause serious problems. It may make it harder for the heart to pump blood to your body, resulting in heart failure. It also can lead to dangerous arrhythmias, or heart rhythm problems, that can cause sudden cardiac arrest, which is quickly fatal. “It’s very important to diagnose and treat,” says Dr. Dwivedi.

Cardiac Amyloidosis

In this condition, your liver produces faulty versions of certain proteins that circulate in the blood, called transthyretin (TTR) proteins. These irregular proteins can’t hold their proper shape and instead fold, get tangled up, and form clumps called fibrils. The clumps build up in your heart and make it difficult for the organ to function properly. The heart has to work extra hard to pump blood, which over time weakens and damages the heart and leads to heart failure. It also can cause atrial fibrillation.

There are a few types of cardiac amyloidosis. The most commonly inherited type is called transthyretin cardiac amyloidosis, or ATTR. It’s caused by a mutation of the transthyretin (TTR) gene, according to NORD.

Brugada Syndrome

This causes rhythm problems in your heart’s ventricles, or two lower chambers. Brugada syndrome can trigger ventricular fibrillation, in which the heart’s lower chambers beat very fast and erratically. This can cause fainting or cardiac arrest and can be quickly fatal. However, some people with it will never have any symptoms.

Long QT Syndrome

This is probably the most common genetic arrhythmia, according to Dr. Myerburg. Like Brugada syndrome, long QT syndrome can cause ventricular fibrillation, and can possibly lead to sudden cardiac death. It can be treated with medications, lifestyle changes, and sometimes a procedure.

Wolff-Parkinson-White Syndrome (WPW)

This inherited disorder creates an extra path for electrical signals to travel between your heart’s upper and lower chambers. This causes fast heartbeats, or tachycardia. WPW does not always cause symptoms, but it can lead to chest pain, shortness of breath, fatigue, dizziness, and fainting. In rare cases, it can be fatal. However, it can be treated with medication or surgery.

Other Arrhythmias

Although Brugrada syndrome, long QT syndrome, and WPW are the most commonly inherited arrhythmias, you can inherit other types of abnormal heart rhythms, including:

• Atrial fibrillation (Afib). This arrhythmia increases your risk of stroke and usually occurs in people with preexisting risk factors, like diabetes, high blood pressure, or heart valve disease. However, approximately a third of people diagnosed with Afib have no known risk factors, according to the Mayo Clinic. In these cases, it’s possible that Afib was caused by an inherited mutated gene (one culprit that’s been identified is KCNQ1). This rare form of the disease is called familial Afib. Experts have also identified more than two dozen genes that contribute to the risk for Afib, though they don’t directly cause the disease.

• Short QT syndrome. This very rare genetic condition prevents your heart from adequately recovering between heartbeats. This in turn can trigger symptoms like dizziness, fainting, and heart palpitations. It also can cause your heart to stop beating—called cardiac arrest—which will lead to sudden cardiac death if not treated immediately. Sometimes, cardiac arrest and death are the first signs of this arrhythmia, which occurs so rarely that experts can’t estimate how many people have it, per the Cleveland Clinic. Short QT syndrome was first discovered in 2000 and since then, only about 250 cases have been reported, according to the National Organization for Rare Disorders (NORD).

• Catecholaminergic polymorphic ventricular tachycardia (CPVT). This rare arrhythmia—it occurs in about one in 10,000 people—causes your heart’s lower chambers, or ventricles, to beat too fast, particularly during exercise or times of stress, according to the Cleveland Clinic. This can cause dizziness, lightheadedness, and fainting. It also can cause cardiac arrest, which can be quickly fatal if not treated right away. Mutations in two genes—RYR2 and CASQ2 – are the most common causes of this genetic arrhythmia.

• Timothy syndrome. This potentially fatal genetic condition has an effect on many parts of the body, including the heart, causing arrhythmias similar to those of long QT syndrome. People with Timothy syndrome may also have webbed fingers and toes and unusual facial appearance, as well as developmental delays, problems with brain function, and increased susceptibility to infections. It is extremely rare. Fewer than 100 known cases have been identified worldwide, per the Cleveland Clinic.

Marfan Syndrome

A mutation in the FBN1 gene causes this disease, which affects the connective tissue that supports and protects organs throughout your body, including the heart. The effects of Marfan syndrome on the heart can be serious, even life-threatening. It can lead to mitral valve prolapse, which causes your heart’s mitral valve to leak blood, or to an aneurysm (bulge) in your heart’s main artery, the aorta. Eventually, your aorta could tear, which can be fatal. The Centers for Disease Control and Prevention (CDC) estimates that about one in 5,000 people have Marfan syndrome.

Familial Hypercholesterolemia (FH)

This disorder develops due to changes, or mutations, in three genes: LDLR, APOB, and PCSK9. The result: Your low-density lipoprotein (LDL) cholesterol—often referred to as “bad” cholesterol because it can lead to heart disease—rises to a dangerous level even if you live a healthy lifestyle. The rise in LDL begins in early childhood. People with FH have a higher risk of coronary artery disease as well as of heart attack at an early age.

Kids with FH begin treatment, usually with cholesterol-lowering drugs called statins, as early as age 8, according to the CDC. Such treatment can reduce the risk of developing heart disease by 80%. About one in 250 people have FH. Most of them inherit only a single mutated gene from one parent. Very rarely, it’s possible to inherit the same gene mutation from both parents. This is called homozygous FH and requires urgent treatment because it causes dangerously high levels of cholesterol that can lead to heart attacks in children.

Cardiac Tumors

Tumors that begin in the heart are rare. Rarer still are heart tumors that result from inherited gene mutations, but they can happen. Tumors in the heart (from any cause) are generally benign (noncancerous), according to the Cleveland Clinic, but if they interfere with the functioning of your heart they will need to be removed. An example is Carney complex, a genetic condition triggered by a mutation of the PRKAR1A gene that causes benign tumors called myxomas. Such tumors may grow in the heart and block blood flow, which can be fatal. You will need surgery to remove them.

Dr. Dwivedi recommends talking to your parents and siblings about their health history. “If a parent or sibling had [some type of genetic heart disease], that should definitely raise an alert,” she says. In families where genetic diseases have not been diagnosed, you can look for other signs. “If there’s a family history of premature sudden death, say a sibling or parent died suddenly and unexpectedly at a relatively young age, that’s a clue that something might be going on,” says Dr. Myerburg.

Tell your doctor about anything you find out during these discussions. They may recommend that you undergo certain tests, like an electrocardiogram (EKG), to determine if your heart function is normal. In some cases, an abnormal EKG report will be followed up with genetic testing. For example, if you are diagnosed with long QT syndrome, your doctor may then run blood tests to see if you carry a gene mutation known to be linked to it. “Once we identify long QT and find the gene, we then test family members for that gene,” says Dr. Myerburg. “The gene becomes the screening technique when looking at other family members.” In this case, the general recommendation would be to test your parents, siblings, and children, he says.

While many gene mutations are inherited from your parents, sometimes gene mutations occur in the sperm or egg cells involved in reproduction or in the earliest stages of development of a fetus. These are called “de novo” mutations. Why they occur is not well understood, says Dr. Myerburg.

If you’ve watched your parents or siblings get diagnosed with heart problems or seen them struggle with the symptoms or complications of heart disease, you may wonder what, if anything, you might be able to do to shore up your heart health.

It depends on the type of heart problem you have. For some, lifestyle changes may help prevent heart disease. For example, if you have familial hypercholesterolemia, a healthy diet, exercise, and maintaining a healthy weight will help manage your cholesterol, though you’ll likely need a cholesterol-lowering drug as well. A healthy lifestyle also will help you if you have a family history of atherosclerosis, and may potentially delay onset of the disease, says Dr. Dwivedi.

But for other inherited conditions, such as hypertrophic cardiomyopathy, these lifestyle adjustments won’t help. Instead, with HCM and inherited arrhythmias like long QT syndrome, your doctor may advise that you adjust your routine (for example, by quitting strenuous exercise) to avoid making your condition worse, says Dr. Myerburg.

The most important thing you can do is see your doctor if there’s a family history of heart disease. “Getting checked out sooner rather than later is always, always the right answer,” says Dr. Dwivedi. “You’re never too young to consider getting screened if there’s a strong family history of a condition.”