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Genetic Heart Disease Often Deadly for Children

X-linked cardiomyopathy associated with serious heart problems

TUESDAY, March 24 (HealthDay News) -- A genetic cardiomyopathy that strikes children is associated with serious heart dysfunction and often death, according to a report in the March 25 issue of the Journal of the American Medical Association.

Barry J. Maron, M.D., from the Minneapolis Heart Institute Foundation in Minnesota, and colleagues followed the clinical course and outcomes of cardiomyopathy associated with mutations in X-linked lysosome-associated membrane protein gene (LAMP2; Danon disease) in seven children with the disease (7-17 years old at diagnosis, including six boys).

During a mean follow-up of 8.6 years, the investigators found that all patients developed left ventricular systolic dysfunction, cavity enlargement and marked left ventricular hypertrophy. Six patients had an unusual ventricular pre-excitation pattern at study entry. Four patients died of acute or progressive heart failure, one underwent heart transplantation, one died suddenly of ventricular fibrillation despite having an implantable cardioverter-defibrillator, and one received an appropriate defibrillator shock for rapid ventricular tachycardia, the researchers report. Autopsy of two hearts showed features of a lysosomal storage disease but also characteristics of severe hypertrophic cardiomyopathy, which involves sarcomere protein mutations.

"LAMP2 cardiomyopathy is a profound disease process characterized by progressive clinical deterioration leading rapidly to cardiac death in young patients [younger than 25 years]," Maron and colleagues conclude. "These observations underscore the importance of timely molecular diagnosis for predicting prognosis and early consideration of heart transplantation."

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