Hypertrophic Cardiomyopathy causes sudden cardiac death in children and young adults

Since Congress declared October “National Sudden Cardiac Arrest Awareness Month” one year ago, more than 250,000 Americans have suffered SCA. For too many, the underlying cause was Hypertrophic Cardiomyopathy (HCM), an inherited disease that affects one out of 500 Americans. What makes it all the more troubling is that early diagnosis of HCM through simple and inexpensive screening can reduce the risk of sudden cardiac death.

HCM, which is characterized by a thickening of the heart muscle, is caused by a defect in one of several genes. It is the leading cause of sudden cardiac death in children and young adults and accounts for 40 percent of all deaths on athletic playing fields across the U.S.

Lisa Salberg, founder and CEO of the Hypertrophic Cardiomyopathy Association (HCMA), a non-profit patient advocacy and support group for HCM patients and their families, was diagnosed with HCM at age 12. She has lost five immediate family members to the disease, including her sister who died at the age of 36. Sadly, her story is not uncommon.

“Most people find their way to me and the HCMA too late to save the life of a loved one,” Salberg said. “Most heartbreaking is when I commiserate with moms and dads who lose seemingly healthy young children and teens.”

Donna Kenski is one such mom. She recently sent Salberg this e-mail: “Our son Simon McCormack’s death from HCM has shaken our lives to the very core. It was – and still is – unimaginable that our strong, handsome, 17-year-old lifeguard could go to sleep one night and not wake up the next morning. Our grief and pain are beyond words. We couldn't save Simon, but by supporting the HCMA and its efforts to increase awareness of HCM and improve heart screening programs, we hope that other young lives can be saved.”

Once diagnosed, many HCM patients benefit from beta blockers, calcium channel blockers and ICDs (implantable cardioverter-defibrillators). Since HCM is inherited, it can also be diagnosed through genetic testing.

“Genetic testing can clarify a diagnosis of HCM and determine an individual’s genetic predisposition for HCM,” said Dr. Martin Maron, co-director, Hypertrophic Cardiomyopathy Center, Tufts-New England Medical Center. “The information gained from genetic testing can impact a patient’s medical treatment or lifestyle and help to identify whether other family members are affected.”

According to Salberg, “There are thousands of families in this country that have experiences similar to Donna Kenski’s. For these families, early diagnosis can make a difference of life or death. A positive genetic test result for HCM can lead to a course of medical treatment and lifestyle and exercise guidelines while a negative result can end rigorous and costly heart exams and the anxiety that often accompanies an unconfirmed diagnosis. Our goal is to prevent SCA by making all Americans aware of HCM and to help ensure that genetic testing and appropriate treatment and management for HCM are widely available.”