May 31, 2012
Genetic variant could be linked to Heart Rhythm Dysfunction
(Ivanhoe Newswire) -- 250,000 people in the U.S. die from sudden cardiac arrest every year. Now, a genetic variant in a cardiac protein could be linked to heart rhythm dysfunction.
The gene identified by Vivek Singh, PhD, from the University of Cincinnati and colleagues is the first genetic variant in a calcium-binding protein found to be associated with ventricular arrhythmias and sudden cardiac death in dilated cardiomyopathy patients.
Dialiated cardiomyopathy is a condition in which the heart becomes weakened and enlarged and cannot pump blood efficiently. This then causes arrhythmias, or irregular heart beats which can lead to cardiac arrest.
Sudden cardiac death is a risk for patients with heart failure who are carriers of this variant in the histidine rich calcium-biding protein because the calcium inside their heart cells is not properly controlled, possibly leading to the development of arrhythmias which can cause arrests.
Every year, 250,000 to 300,000 people in the U.S. and up to 5 million worldwide die from sudden cardiac arrest.
"Recently our group at UC and Athens, Greece, identified a genetic variant in HRC, named Ser96Ala, which showed a significant association with worsening ventricular arrhythmias and sudden cardiac death in a group of patients with idiopathic dilated cardiomyopathy. In this study, our team characterized the mechanisms and pathways that link the HRC variant with arrhythmias causing sudden death."
Singh added that this data could eventually provide new insights into pathways that control calcium regulation, leading to the development of new clinical interventions.
SOURCE: International Society of Heart Research's Pathology and Treatment of Heart Failure, and Cedars-Sinai, May 2012