Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations.

ABSTRACT:

Background

The BAG3 (BLC2-associated athanogene 3) gene codes for an antiapoptotic protein located on the sarcomere Z-disc. Mutations in BAG3 are associated with dilated cardiomyopathy (DCM), but only a small number of cases have been reported to date, and the natural history of BAG3 cardiomyopathy is poorly understood.

Objectives

This study sought to describe the phenotype and prognosis of BAG3 mutations in a large multicenter DCM cohort.

Methods

The study cohort comprised 129 individuals with a BAG3 mutation (62% males, 35.1 ± 15.0 years of age) followed at 18 European centers. Localization of BAG3 in cardiac tissue was analyzed in patients with truncating BAG3 mutations using immunohistochemistry.

Results

At first evaluation, 57.4% of patients had DCM. After

SUBMITTER: Dominguez F 

PROVIDER: S-EPMC6688826 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature