Congestive Heart Failure as Initial Manifestation of Biventricular Arrhythmogenic Cardiomyopathy With MYBPC3 and DSG2 Variants.

ABSTRACT:

Background

Arrhythmogenic cardiomyopathy (ACM) is typically linked to variants in desmosomal genes (eg, DSG2), whereas MYBPC3 variants are associated with hypertrophic cardiomyopathy. Concurrent variants from both pathways are rare and poorly characterized.

Case summary

A 35-year-old man who presented with congestive heart failure fulfilled the criteria for biventricular ACM. Genetic analysis identified 3 heterozygous variants, in DSG2 (c.136C>T, p.Arg46Trp and c.806T>C, p.Ile269Thr) and MYBPC3 (c.529C>T, p.Arg177Cys; variant of uncertain significance). The patient was treated with guideline-directed therapy, remained clinically stable with reduced premature ventricular complex burden and improved biventricular function on cardiac magnetic resonance, and was listed for heart

SUBMITTER: Alanis-Naranjo JM 

PROVIDER: S-EPMC12790200 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature