JACC Case Rep. 2024 Oct 2;29(19):102603. doi: 10.1016/j.jaccas.2024.102603. eCollection 2024 Oct 2.
ABSTRACT
This paper presents the case of a 14-year-old boy with Danon disease exhibiting exclusive cardiac involvement, initially suspected as hypertrophic cardiomyopathy. Significant deterioration raised suspicion of an alternative etiology. A clinical exome revealed a previously unreported likely pathogenic variant, LAMP2:c.645_651del (p.LysAsnfs∗25), in hemizygous state, confirming the diagnosis of Danon disease.
PMID:39484323 | PMC:PMC11522808 | DOI:10.1016/j.jaccas.2024.102603
