Article
Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: a case report.
BMC cardiovascular disorders - 5 Apr 2020
Novelli Valeria, Bisignani Antonio, Pelargonio Gemma, Primiano Guido, Narducci Maria Lucia, Palmieri Vincenzo, Tiziano Francesco Danilo, Zeppilli Paolo, Servidei Serenella, Crea Filippo, Genuardi Maurizio
Abstract excerpt
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 and early onset phenotype in males, causing sudden cardiac death (SCD) in the first three decades of life. Genetic...
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