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. 2007;52(10):830-835.
doi: 10.1007/s10038-007-0184-8.

Danon disease presenting with dilated cardiomyopathy and a complex phenotype

Matthew R G Taylor  1   2 , Lisa Ku  3 , Dobromir Slavov  3 , Jean Cavanaugh  4 , Mark Boucek  4 , Xiao Zhu  3 , Sharon Graw  3 , Elisa Carniel  3 , Carl Barnes  3 , Dianna Quan  3 , Ryan Prall  3 , Mark A Lovell  4 , Gary Mierau  4 , Patsy Ruegg  3 , Naresh Mandava  3 , Michael R Bristow  3 , Jeffrey A Towbin  5 , Luisa Mestroni  3 ; Familial Cardiomyopathy Registry
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Danon disease presenting with dilated cardiomyopathy and a complex phenotype

Matthew R G Taylor et al. J Hum Genet. 2007.

Abstract

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.

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