Genetic mutation linked to rare heart disease

Researchers at the University of Colorado Anschutz Medical campus have discovered a link between a genetic mutation and left ventricular noncompaction.

According to the article published in the Journal of the American College of Cardiology, researchers sequenced nearly 5,000 genes in 335 patients with a family history of heart muscle disease. The goal was to find mutations that could cause a variety of cardiomyopathies.

"Many kinds of heart disease are caused by genetics. When that happens, the disease is often more severe and happens at an earlier age," Teisha J. Rowland, a post-doctoral fellow at the University of Colorado School of Medicine, said. "So we look at the DNA in entire families to see what sort of genetic variants those with the illness have in common."

Results showed that several people with left ventricle noncompaction (LVNC) had a mutation in a gene called Obscurin, which is part of the sarcomere. This includes heart muscle. Mutations in Obscurin prevent the striated muscles from pulling and gliding past each other properly.

"We found a strong association between this gene, which has not been studied much, and this rare form of genetic heart disease," Rowland said. "Left ventricular noncompaction is thought to happen during early human development. It would be interesting to see if mutated Obscurin affects heart formation during development."