Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene.
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.


CONCLUSIONS
Early diagnosis of Danon disease is important for genetic counselling and timely cardiac transplantation, the only effective therapeutic option.
Balmer
Christian
C
Department of Paediatric Cardiology, University Children's Hospital, Steinwiesstrasse 75, 8032 Zurich, Switzerland. christian.balmer@kispi.unizh.ch
Ballhausen
Diana
D
Bosshard
Nils U
NU
Steinmann
Beat
B
Boltshauser
Eugen
E
Bauersfeld
Urs
U
Superti-Furga
Andrea
A
D000293:Adolescent; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D052120:Glycogen Storage Disease Type IIb / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D052119:Lysosomal-Associated Membrane Protein 2; D051907:Lysosomal Membrane Proteins / Q000235:genetics*; D008297:Male; D010375:Pedigree
C497811:LAMP2 protein, human; D052119:Lysosomal-Associated Membrane Protein 2; D051907:Lysosomal Membrane Proteins