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Fatal Heart Condition Among Young Athletes

Fatal Heart Condition Among Young Athletes
A Johns Hopkins study has provided the most comprehensive description to date of people most likely to develop a relatively rare heart condition, called arrhythmogenic right ventricular dysplasia (ARVD), known to be among the top causes of sudden cardiac death among young athletes.

In their study, would be published in the journal Circulation online Dec. 12, the Hopkins researchers analyzed characteristics of 100 ARVD patients, including 69 while still alive and 31 diagnosed postmortem. The subjects included men and women of a number of ethnic backgrounds, with a median age of 31.

The subjects were part of Hopkins' registry of U.S. patients with the condition, which appears on MRI scans as either a protruding or pouch-like bulge from the right side of the heart or a dilated, poorly functioning right ventricle.

As noted in numerous memorials to athletes posted to the Internet, ARVD is composed of a range of symptoms, including irregular heartbeat and the presence of excess amounts of fatty tissue in the heart's right ventricle, the lesser known of the heart's two main pumping chambers and the one that pumps blood to the lungs. As a result, the abnormal and often weakened and scarred right ventricle dramatically increases the risk of harmful ventricular arrhythmias and possible sudden cardiac death.

Estimates from scientists and the Heart Rhythm Society suggest that ARVD accounts for up to 5 percent of the 300,000 deaths each year in the United States from sudden cardiac death. A family history of sudden cardiac death at a young age is considered a major risk factor for the disorder. Athletes are also at particular risk, but the precise biological reasons for this remain unknown.

According to senior study investigator and cardiac electrophysiologist Hugh Calkins, M.D., "physicians need to know that this is a serious disease, and they should be on the lookout for its early signs and symptoms because it is an important cause of sudden cardiac death in apparently healthy young individuals.

"Preventive therapy with an implantable defibrillator appears to eliminate the risk of sudden death," he adds.

Calkins, a professor of medicine and pediatrics at The Johns Hopkins University School of Medicine and its Heart Institute, notes that the disease frequently strikes people who are relatively young and that symptoms may appear up to 15 years before diagnosis. Initial symptoms include palpitations, dizziness and fainting.

Scientists found that symptoms commonly appear after puberty and before age 50. Eight of the 31 patients who died before diagnosis had shown signs of the disease when alive, including five who had passed out, suggesting they could have been treated and saved, the scientists say.

"Our results are a sobering reminder that if a young person faints, particularly in association with exercise, their physicians should evaluate them carefully for cardiac diseases, including ARVD," says study lead author Darshan Dalal, M.D., M.P.H., a cardiology research fellow at Hopkins.

Diagnosis of ARVD is based on a four-point scale, and up to 10 cardiac tests are mandatory to confirm a diagnosis. Electrocardiograms, or EKGs, and echocardiograms are performed to verify the origins of arrhythmia, and MRI tests - backed up by tissue biopsy - are done to confirm the buildup of fat and fibrous tissue in the right ventricle.

According to Calkins, who founded Hopkins' ARVD registry in 1998 and is also director of its arrhythmia programs, these confirmatory tests are important because the illness is often misdiagnosed if physicians rely on a single diagnostic test, such as MRI.

His earlier research, in 2004, showed that more than half of patients are misdiagnosed, with physicians correctly diagnosing only 27 percent of true cases of ARVD.

In the new study, of the 47 patients who were diagnosed early and implanted with defibrillators that shock the heart to correct irregular rhythms, only one died of cardiac arrest, when the heart suddenly stops functioning from a runaway heartbeat.Twenty-nine of the patients' defibrillators "fired" within two years. This was, says Dalal "the good news that most patients do quite well if protected by a defibrillator." .

Of 22 patients without defibrillators and maintained on drug treatment alone, two died of cardiac arrest, in addition to the 31 who died before diagnosis.

While the exact cause of ARVD remains unknown, the researchers believe it to be an inherited syndrome and that improved awareness and better diagnosis are steps toward their goal of developing a screening test for those at risk.

Funding for this study was given by the Bogle Foundation, the Campanella family, the Wilmerding Endowments, the National Institutes of Health and the Donald W. Reynolds Foundation. Calkins receives research support from device manufacturers Guidant, Medtronic and St. Jude. The terms of these arrangements are being managed by The Johns Hopkins University in accordance with its conflict of interest policies.

Besides Calkins and Dalal, other scientists involved in this study, conducted solely at Hopkins, were Khurram Nasir, M.D., M.P.H.; Chandra Bomma, M.D.; Kalpana Prakasa, M.D.; Harikrishna Tandri, M.D.; Jonathan Piccini, M.D.; Ariel Roguin, M.D.; Crystal Tichnell, M.G.C; Cynthia James, Ph.D., Sc.M.; Stuart Russell, M.D.; Daniel Judge, M.D.; Theodore Abraham, M.D.; Philip Spevak, M.D.; and David Bluemke, M.D., Ph.D.

Source: Johns Hopkins Medicine

Did you know?
A Johns Hopkins study has provided the most comprehensive description to date of people most likely to develop a relatively rare heart condition, called arrhythmogenic right ventricular dysplasia (ARVD), known to be among the top causes of sudden cardiac death among young athletes. Fatal Heart Condition Among Young Athletes

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