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Getting to the Heart of Inherited Disease

Getting to the Heart of Inherited Disease

Some people come to Johns Hopkins’ Center for Inherited Heart Disease after experiencing a puzzling episode, such as fainting from an abnormal cardiac rhythm. Others come after a family member dies unexpectedly from a cardiac condition. Either way, says Gordon Tomaselli, chief of Johns Hopkins’ Division of Cardiology and co-director of the Heart and Vascular Institute, they come for answers and to set up a long-term plan.

At the first visit, physicians and other providers carefully examine medical records and take a detailed family history to determine whether the patient’s heart problems are inherited or acquired. They also perform a battery of tests.

For some patients, genetic testing is also an important step to consider. With its own group of genetic counselors and a strong relationship with Johns Hopkins’ McKusick-Nathans Institute of Genetic Medicine, the center helps patients decide whether to pursue genetic testing to identify their likelihood of developing cardiac disease.

Although genetic testing can be extraordinarily helpful in some circumstances, results aren’t always definitive, because researchers haven’t yet identified the thousands of possible variants associated with genetic heart diseases, says Tomaselli.

“Our genetic counselors often explain that if we do genetic testing, it doesn’t always mean that we identify the problem. It may, in fact, cloud the picture,” he adds.

Even when genetic testing doesn’t yield definitive findings, doctors like Tomaselli and Daniel Judge, director of the Center for Inherited Heart Diseases, can advise patients on treatment options and disease management.

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