How Your Genes Can Influence Your Heart Health

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inherited cardiac abnormalities

Most of us are aware that heart problems can result from lifestyle choices such as smoking, poor diet, excess alcohol or lack of exercise. Other heart problems can result from medical conditions like diabetes or high blood pressure.

But another potential influencer on your heart health could lie in your genes.

While some conditions like high blood pressure or coronary artery disease run in families, there are other, less common, inherited heart diseases that can be caused by just one or very few genetic changes.

Inherited genetic mutations can affect the structure of the heart muscle, which can result in symptoms of heart failure. Gene mutations can also affect the heart’s electrical system, which might lead to abnormal heart rhythms. All of these inherited genetic conditions can increase your risk for life-threatening heart rhythms and sudden death says, cardiac electrophysiologist Judith Mackall, MD, Director of the Center for Cardiovascular Genetics at University Hospitals Harrington Heart & Vascular Institute.

Some of the heart conditions that result from these mutations include hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, long-QT syndrome, catecholaminergic polymorphic ventricular tachycardia and Brugada syndrome, she says.

If you have a cardiac genetic mutation, you may have an increased risk of sudden cardiac death, in which the heart rhythm unexpectedly becomes rapid and chaotic – and which often is fatal.

Varying Levels of Symptoms

You may inherit a genetic abnormality from your parents, but changes to the heart may not be apparent, Dr. Mackall says.

Family members with the same cardiac genetic abnormality may show widely varying levels of symptoms, from minor to severe – or no symptoms at all. And most inherited heart conditions can affect people of any age.

One strong indicator that an inherited heart disease might be in your family is if a relative died suddenly or unexpectedly, especially if the person was young and otherwise healthy, Dr. Mackall says. Sometimes, sudden cardiac death can be mistaken for a heart attack, or go undetected in a drowning or a car accident.

Keeping You and Your Family Safe

If you’re already seeing a cardiologist for heart problems, your doctor might recommend genetic testing to find out more about your condition. Genetic testing, which is done through a blood sample, can help refine your diagnosis and better guide your treatment.

If a close relative has tested positive for an inherited heart condition on a genetic test, you may want to consider genetic testing. The results can help in managing your risk – such as avoiding certain medicines or activities – and in decision-making about how best to take care of your heart.

“If you are genetically predisposed to have a high risk for a cardiac condition, you will want to do everything you can to decrease your likelihood of developing that disease,” Dr. Mackall says. “Identifying who has genetic abnormalities is the most important thing because you can then make healthy choices and help keep you or your family members alive.”

Genetic testing may be appropriate if you have symptoms such as:

  • Unexplained fainting, or fainting with exercise or emotional stress
  • Unexplained seizure, or seizures with a normal neurological evaluation
  • Enlarged heart
  • Irregular heartbeat
  • Early heart attack, coronary artery disease or stroke
  • Enlarged aorta or aortic aneurysm in the chest at younger than age 55
  • Sudden infant death syndrome in the family
  • Untreated very high blood cholesterol

“In our clinic, we handle every aspect related to the diagnosis,” Dr. Mackall says. “It’s a lot to digest and it’s impactful, not only to you but to your family.”

Related Links

University Hospitals Center for Cardiovascular Genetics specializes in evaluation, treatment, diagnosis and genetic counseling for individuals and their family members. Call 216-844-8917 to make an appointment or visit UHhospitals.org/HeartGenetics to learn more.

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