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