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| |  Rare Type of Cardiomyopathy Progresses Rapidly, Often Deadly for Young Patients CHICAGO -- March 24, 2009 -- Danon disease progresses rapidly and often results in early death in young patients, according to a study is published in the March 25 issue of JAMA. Danon disease is a recently recognised rare type of cardiomyopathy linked to mutations in the lysosome-associated membrane protein gene (LAMP2). However, the natural course of the disease has been unclear, according to background information in the article. Barry J. Maron, MD, Minneapolis Heart Institute Foundation, Minneapolis, Minnesota, and colleagues assessed the natural history associated with LAMP2 cardiomyopathy and the outcomes of diagnostic and management strategies. The study included 7 patients (6 boys) who were aged 7 to 17 years at the time of diagnosis with LAMP2 mutations. Clinical diagnosis in 6 patients occurred as a result of a heart murmur, family screening, and findings on routine electrocardiogram (ECG) or by symptoms (chest pain or fainting) and, in 1 patient, by atrial fibrillation. During the subsequent average time of 8.6 years after diagnosis, each of the 7 patients experienced serious adverse clinical consequences by age 14 to 24 years (average, 21 years). Four patients died of acute or progressive heart failure, and 1 patient underwent heart transplantation. Clinical deterioration was often rapid, with the time interval from clinical stability with little or no symptoms to end-stage heart failure as brief as 6 months. Two other patients experienced sudden unexpected major arrhythmic events, with 1 patient dying suddenly (aged 14 years) from ventricular fibrillation that was not responding to implantable cardioverter-defibrillator (ICD) therapy. All 7 patients developed left ventricular systolic dysfunction. All patients had received ICDs, which ultimately failed to terminate lethal ventricular tachyarrhythmias in 5 patients. The most recent echocardiographic studies obtained of the patients demonstrated marked left ventricular hypertrophy in each. Postmortem examination of 2 hearts showed massive cardiac hypertrophy. "The clinical course of these 7 patients with LAMP2 mutations provides important insights regarding molecular diagnosis as well as the natural history, pathophysiology, and clinical implications of this recently recognised genetic cardiomyopathy," the authors wrote. "LAMP2 mutations cause a particularly profound and accelerated cardiac disease process characterized by clinical deterioration and early death, perhaps representing one of the most lethal cardiomyopathies in young and usually male patients. Such an outcome occurred in the patients in our study despite application of the most contemporary treatment strategies, including the ICD."
SOURCE: JAMA
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