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Muscular dystrophy patients and moms at risk for serious heart disease

Editor's note: Watch video of Dr. Jeffrey Towbin discussing the correlation between muscular dystrophy and heart disease. To receive a copy of the entire video, or arrange an interview with Dr. Towbin, please contact Carol Wittman.

HOUSTON, (Aug. 28, 2006) – As fall approaches and the country rallies to support muscular dystrophy patients, a genetics researcher at Texas Children's Heart Center warns that MD patients and their moms have a significant risk for fatal heart muscle disease. 

The condition, known as cardiomyopathy, damages heart muscle strength and affects the heart’s ability to pump blood to the rest of the body.  It eventually leads to congestive heart failure.

“Few people may know that cardiac disease, particularly dilated cardiomyopathy and heart failure is the major cause of mortality in patients with muscular dystrophy,” said Dr. Jeffrey A. Towbin, chief of cardiology at Texas Children's Hospital and professor of pediatric cardiology at Baylor College of Medicine in Houston. “Now we know that mothers of these boys are also at risk of developing the same form of cardiomyopathy sometime in their 40s or 50s.  For this reason, both boys and their moms should be evaluated by cardiologists and consider getting an echocardiogram,” Towbin said.

In the early 1990s, Towbin was the first researcher to identify mutations of the dystrophin gene responsible for Becker and Duchenne muscular dystrophy, as the cause of X-linked dilated cardiomyopathy. His studies lead him to recommend that MD patients be screened for heart problems starting at age 10. 

In the Pediatric Cardiovascular Genetics clinic at Texas Children's Hospital, Towbin and his team start with a detailed family history and an echocardiogram or ultrasound of the patient’s heart, which, at that age, generally shows the heart to be normal.  They follow up with echocardiograms on the patients each year.  When Towbin sees the earliest evidence of dilated cardiomyopathy, he prescribes medication or other therapies to prevent the child from experiencing further heart deterioration.

"In the past decade, we have been able to help many muscular dystrophy patients live beyond 25 or 30 years of age instead of 16 to 20 years,” said Towbin.  “Now we advise mothers who are gene carriers that they can also develop this same heart problem and need good healthcare including cardiovascular evaluation and follow-up.”