<i>BAG3</i>-related myofibrillar myopathy: focus on its cardiac involvement.

ABSTRACT: Myofibrillar myopathy is a cause of rare and severe pediatric cardiomyopathies. Few descriptions of patients carrying the rare p. Pro209Leu variant in BAG3 and presenting with myofibrillar myopathy are reported in the literature. Most reports originate from neurological teams, while the cardiac phenotype remains poorly described, even though it is crucial for prognosis, as cardiac involvement can significantly influence patient outcomes. We focused on the cardiac phenotype associated with p. Pro209Leu variant in BAG3 and conducted a literature review. We report three patients with severe restrictive cardiomyopathy (RCM) including two with left ventricular hypertrophy. Cardiac symptoms appeared 7 [5-7.5] years after neurological onset and were predominantly right heart failure

SUBMITTER: Daire E 

PROVIDER: S-EPMC12688876 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature