Simple genetic test can help in detecting heart abnormalities

Hypertrophic Cardiomyopathy (HCM) is a genetic disease that causes the heart muscle to become abnormally large. It often goes undetected and, as a result, HCM has the dubious distinction of being the leading cause of sudden death in children, young adults and athletes.

"Unfortunately, HCM also is a great masquerader," said Lisa Salberg, founder and CEO of the Hypertrophic Cardiomyopathy Association, a non-profit advocacy and support group for HCM patients, their families and medical providers. "HCM can easily mimic other genetic disorders, in particular Fabry's Disease and Pompe Disease."

Both Fabry Disease and Pompe Disease are lysosomal storage diseases. HCM is not. Pompe, among its many symptoms, can cause progressive muscle weakness in the heart while Fabry, also among its many devastating symptoms can cause the heart to enlarge.

Fabry, Pompe and HCM each require radically different treatments.

For example, Fabry and Pompe can be treated by enzyme replacement therapy (the new Harrison Ford film Extraordinary Measures is about this very treatment!) while HCM requires beta blockers and, in many cases, an implantable cardioverter defibrillator (ICD) is necessary to prevent sudden death.

Timely diagnosis is essential to getting the proper treatment. A simple genetic test can pinpoint the specific disease. And because these diseases are hereditary, other family members can be genetically tested to determine if they are predisposed to developing the disease or passing it along to their offspring.

"Genetic testing in the face of a diagnosis of HCM is becoming the standard for all with this diagnosis," said Dr. Martin Maron, co-director of the Hypertrophic Cardiomyopathy Center at Tufts Medical Center. "The benefit of knowing the true reason for a heart's abnormality can help to guide treatment and improve outcomes."