Heart Defect That Kills Athletes Under Study

Researchers Seek Study Participants

Physicians around the world are seeking families to help them learn more about a rare heart condition that kills athletes and seems to run in families.

Arrhythmogenic right ventricular dysplasia, or ARVD, occurs when the healthy heart muscle tissue of the right ventricle is replaced by fat and scar tissue. This makes life-threatening arrhythmias possible.

The disorder, which affects one in 5,000 people, accounts for up to one-fifth of all cases of sudden cardiac death in people younger than 35. It is usually associated with vigorous exercise.

"The heart rapidly speeds up and patients die, a significant portion of them before they've ever been diagnosed," said Dr. Hugh Calkins, John Hopkins professor of medicine and pediatrics. "Getting the right diagnosis, through cardiac tests such as cardiac MRI, echocardiogram and a biopsy of heart tissue, is key."

Researchers around the world are collaborating with John Hopkins researchers to research the best approach to diagnose this potentially deadly condition and also to determine the genetic abnormalities that are responsible for it.

At Hopkins and the University of Arizona, researchers are actively recruiting patients with possible ARVD for the study. The cause of ARVD is not yet known, although increasing evidence points to a genetic cause, Calkins said.

There is no cure, but many patients are treated with an implantable defibrillator, a pacemaker-like device that monitors the heart beat and automatically delivers a shock to the heart if a dangerous arrhythmia occurs. Others are managed with medications. Patients are generally advised to avoid strenuous competitive athletics.

For more information or to schedule an appointment for testing at Johns Hopkins, call (410) 502-7161 or e-mail ctichnell@jhmi.edu.

Additional Resources:

• ARVD FAQs
• Cardiomyopathy Association

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