Article: article from journal or magazin.
Case report (case report): feedback on an observation with a short commentary.
Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene.
European Journal of Pediatrics
Publication types: Case Reports ; Journal Article
A boy presented at age 2.5 years with mild left ventricular hypertrophy and mild myopathy. Hypertrophic cardiomyopathy progressed relentlessly, leading to death at age 16 years shortly before planned heart transplantation. During the course of the disease, his mother developed severe dilated cardiomyopathy and died of its complications at 46 years of age. The combination of myopathy and cardiomyopathy, the biochemical and electron microscopy findings in a muscle biopsy, and the pedigree suggested Danon disease (MIM 300257), an X-linked lysosomal storage disorder caused by deficiency of lysosome-associated membrane protein-2 (LAMP2). The diagnosis was confirmed by the identification of a novel mutation, G138A, in the LAMP2gene, leading to the premature stop codon W46X. CONCLUSION: Early diagnosis of Danon disease is important for genetic counselling and timely cardiac transplantation, the only effective therapeutic option.
Adolescent, DNA Mutational Analysis, Fatal Outcome, Glycogen Storage Disease Type IIb/diagnosis, Glycogen Storage Disease Type IIb/genetics, Humans, Lysosome-Associated Membrane Glycoproteins/genetics, Male, Pedigree
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