Danon disease in a Sardinian family: different aspects of the same mutation-a case report.

ABSTRACT:

Background

Danon disease (DD) is a rare X-linked disorder due to mutations in the lysosome-associated membrane protein 2 gene. It is characterized by a clinical triad of hypertrophic cardiomyopathy, skeletal myopathy, and a variable degree of intellectual disability.

Case summary

In this case series, we describe a mother and her son affected by DD, highlighting consistent clinical severity despite the expected variability related to gender. The mother (Case 1) presented isolated cardiac involvement, with an arrhythmogenic phenotype that evolved into severe heart failure requiring heart transplantation (HT). Danon disease was diagnosed 1 year after this event. Her son (Case 2) showed an earlier age onset of symptoms with complete atrioventricular block and fast progression of

SUBMITTER: Pasqualucci D 

PROVIDER: S-EPMC10202301 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature