Danon disease presenting with dilated cardiomyopathy and a complex phenotype
| Autor: | Carl Barnes, Lisa Ku, Dobromir Slavov, Patsy Ruegg, Gary W. Mierau, Mark A. Lovell, Luisa Mestroni, Michael R. Bristow, Jeffrey A. Towbin, Dianna Quan, Mark M. Boucek, Sharon L. Graw, Jean Cavanaugh, Elisa Carniel, Matthew R.G. Taylor, Ryan Prall, Naresh Mandava, Xiao Zhu |
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| Rok vydání: | 2007 |
| Předmět: |
Adult
Cardiomyopathy Dilated Male Pathology medicine.medical_specialty Adolescent Cardiomyopathy medicine.disease_cause Lysosomal-Associated Membrane Protein 2 Genetics medicine Humans Danon disease Genetics (clinical) Mutation business.industry Hypertrophic cardiomyopathy Skeletal muscle Infant Lysosome-Associated Membrane Glycoproteins Dilated cardiomyopathy Middle Aged medicine.disease Phenotype Glycogen Storage Disease Type IIb Pedigree medicine.anatomical_structure Vacuolization Female business |
| Zdroj: | Journal of human genetics. 52(10) |
| ISSN: | 1434-5161 |
| Popis: | 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 creatine kinase, cognitive impairment (in males), and a pigmentary retinopathy in affected females. Cardiac biopsy specimens showed extensive vacuolar changes in an affected adult male. Remarkably, the skeletal muscle 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 a 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. |
| Databáze: | OpenAIRE |
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