Details

Autor(en) / Beteiligte

• Taylor, Matthew R G
• Ku, Lisa
• Slavov, Dobromir
• Cavanaugh, Jean
• Boucek, Mark
• Zhu, Xiao
• Graw, Sharon
• Carniel, Elisa
• Barnes, Carl
• Quan, Dianna
• Prall, Ryan
• Lovell, Mark A
• Mierau, Gary
• Ruegg, Patsy
• Mandava, Naresh
• Bristow, Michael R
• Towbin, Jeffrey A
• Mestroni, Luisa

Titel

Danon disease presenting with dilated cardiomyopathy and a complex phenotype

Ist Teil von

• Journal of human genetics, 2007-10, Vol.52 (10), p.830-835

Ort / Verlag

England: Nature Publishing Group

Erscheinungsjahr

2007

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• X-linked dilated cardiomyopathy (XLCM) was first described in 1987 and associated with dystrophin gene (DMD) mutations a decade later in one of the original two families. Here we report long-term follow-up of the second family (XLCM-2), for which a DMD mutation was never found. Analysis of the lysosome-associated membrane protein-2 (LAMP-2) gene detected a novel mutation, confirming a diagnosis of Danon disease. The broad phenotype in this family included dilated and hypertrophic cardiomyopathy, cardiac pre-excitation, skeletal myopathy with high serum creatinine kinase, cognitive impairement (in males), and and a pigmentary retinopathy in affected females. Cardiac biopsy in a 13-month-old mutation-carrying male showed no vacuolization by standard histology. We conclude that XLCM may be the presenting sign of Danon disease and, in the presence of familial history of HCM, pre-excitation, skeletal muscle involvement and retinal pigmentary dystrophy should prompt LAMP-2 clinical testing. Furthermore, the absence of vacuolar myopathy in biopsies from young patients may not exclude Danon disease.