Rare Variants in Cardiomyopathy Genes Associated With Stress-Induced Cardiomyopathy.

ABSTRACT:

Background

Stress-induced cardiomyopathy (SIC) is a poorly understood condition associated with periods of emotional and physical stress. The clinical approaches for management of SIC are supportive and reactive to patient symptoms.

Objective

To utilize next-generation exome sequencing to define genetic variation associated with, and potentially responsible for, this disease.

Methods

We performed exome sequencing of 7 white female patients with SIC. Filtering of the identified variants was performed to limit our investigation to those sequences that passed quality control criteria, were rare or novel, were determined algorithmically to have high impact on the associated protein, and were within regions of high species conservation. All variants were verified by using

SUBMITTER: Kalani MY 

PROVIDER: S-EPMC4871739 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature