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Fight Back Against Inherited Sudden-Death Heart Condition

teenagers, as well as adults, she says.

Several tests can identify HCM. The initial one performed on many patients is an echocardiogram, or ultrasound of the heart, which can reveal thickening of the heart muscle and identify areas where blood flow may be obstructed from leaving the heart.

With a thorough history, physical examination and some simple noninvasive testing, doctors can tell someone with HCM how high their risk of sudden death is — around 1-in-100 each year for most HCM patients, but as high as 6-in-100 per year for others. That risk level will play a part in determining what treatments patients receive.

Now, genetic testing is starting to emerge as a way to determine how many relatives of an HCM patient also inherited the same genes and might be at risk. “As we learn more about genetics and we perform genetic testing on patients, we hope we can improve the management of patients, and in the future, identify people who carry the genetic mutation but do not yet have HCM,” Day says. “In that way, we hope we can even find ways to prevent the development of the disease.”

The U-M team is one of few in the nation offering genetic testing for HCM patients and their families, and they are conducting a research study to analyze genetic results from many families. Day and her colleagues are also performing laboratory research to understand why HCM gene mutations cause heart muscle to thicken, and to test new strategies for reversing or slowing the process.

Until genetic treatments are available, HCM patients and their family members have many options. Both adults and children who have symptoms or are at a high risk of sudden death can take medications that keep their heart beating steadily, and have regular tests to monitor their heart muscle and its electrical activity. Implanted devices called defibrillators — which can detect a dangerous heart-rhythm problem instantly and restore normal rhythm — can
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