Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: a case report

Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: a case report

Abstract Background Danon disease (OMIM 300257) is an X-linked lysosomal storage disorder, characterized by hypertrophic cardiomyopathy (HCM), skeletal myopathy, variable intellectual disability, and other minor clinical features. This condition accounts for ~ 4% of HCM patients, with a more severe...

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Bibliographic Details
Main Authors: Valeria Novelli, Antonio Bisignani, Gemma Pelargonio, Guido Primiano, Maria Lucia Narducci, Vincenzo Palmieri, Francesco Danilo Tiziano, Paolo Zeppilli, Serenella Servidei, Filippo Crea, Maurizio Genuardi
Format: Article
Language:English
Published: BMC 2020-04-01
Series:BMC Cardiovascular Disorders
Subjects:
Danon disease
Genetic testing
Pathogenic variants
Hypertrophic cardiomyopathy
Phenocopy
Online Access:http://link.springer.com/article/10.1186/s12872-020-01421-4

Internet

http://link.springer.com/article/10.1186/s12872-020-01421-4

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