Association of Cardiomyopathy With MYBPC3 D389V and MYBPC3Δ25bpIntronic Deletion in South Asian Descendants.

ABSTRACT:

Importance

The genetic variant MYBPC3Δ25bp occurs in 4% of South Asian descendants, with an estimated 100 million carriers worldwide. MYBPC3 Δ25bp has been linked to cardiomyopathy and heart failure. However, the high prevalence of MYBPC3Δ25bp suggests that other stressors act in concert with MYBPC3Δ25bp.

Objective

To determine whether there are additional genetic factors that contribute to the cardiomyopathic expression of MYBPC3Δ25bp.

Design, setting, andparticipants

South Asian individuals living in the United States were screened for MYBPC3Δ25bp, and a subgroup was clinically evaluated using electrocardiograms and echocardiograms at Loyola University, Chicago, Illinois, between January 2015 and July 2016.

Main outcomes and measures

Next-generation sequencin

SUBMITTER: Viswanathan SK 

PROVIDER: S-EPMC6054452 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature