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• W2624587071 abstract "Danon disease is a rare, X-linked dominant genetic disorder that is caused by defects in the lysosome-associated membrane protein 2 (LAMP2) gene. It manifests predominantly in young males with a classic triad of cardiomyopathy, skeletal myopathy, and intellectual disability. Death from cardiac disease is the ultimate cause of demise in many patients if left untreated. Given the rarity of the condition, the natural history is poorly understood. Here, we present a case report on a 14-year-old Hispanic boy with Danon disease, highlighting major clinical events and diagnostic study findings over a six-year period from age of symptom onset to age of death. He had significant hypertrophic cardiomyopathy (ventricular septal thickness 65 mm) and experienced various arrhythmias during his clinical course including Wolf-Parkinson-White syndrome, non-sustained ventricular tachycardia, and pre-excited atrial fibrillation with a fasciculoventricular anomalous accessory pathway. He had sudden cardiac death from ventricular fibrillation at age 14 and his heart had a weight of 1425 grams at autopsy. We also provide a review of the cardiac Danon disease literature related to diagnostic and management approaches to aid cardiologists in evaluating and treating cardiac manifestations in Danon disease patients." @default.
• W2624587071 created "2017-06-15" @default.
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• W2624587071 date "2017-04-03" @default.
• W2624587071 modified "2023-09-27" @default.
• W2624587071 title "Danon disease for the cardiologist: case report and review of the literature" @default.
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• W2624587071 doi "https://doi.org/10.1080/20009666.2017.1324239" @default.
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