Familial Dilated Cardiomyopathy Caused by a Novel Frameshift in the BAG3 Gene.

ABSTRACT:

Background

Dilated cardiomyopathy, a major cause of chronic heart failure and cardiac transplantation, is characterized by left ventricular or biventricular heart dilatation. In nearly 50% of cases the pathology is inherited, and more than 60 genes have been reported as disease-causing. However, in 30% of familial cases the mutation remains unidentified even after comprehensive genetic analysis. This study clinically and genetically assessed a large Spanish family affected by dilated cardiomyopathy to search for novel variations.

Methods and results

Our study included a total of 100 family members. Clinical assessment was performed in alive, and genetic analysis was also performed in alive and 1 deceased relative. Genetic screening included resequencing of 55 genes associate

SUBMITTER: Toro R 

PROVIDER: S-EPMC4938129 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature