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

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.

Source: BMC Cardiovascular Disorders - April 5, 2020 Category: Cardiology Authors: Valeria Novelli, Antonio Bisignani, Gemma Pelargonio, Guido Primiano, Maria Lucia Narducci, Vincenzo Palmieri, Francesco Danilo Tiziano, Paolo Zeppilli, Serenella Servidei, Filippo Crea and Maurizio Genuardi Tags: Case report Source Type: research