Israeli Researchers Identify Defective Gene Linked to Deadly Heart Condition

Hypertrophic cardiomyopathy is the most widespread hereditary heart disease in the world. Genetic screening can potentially save lives.

By Shula Rosen

An Israeli study has identified a defective gene present in a common and deadly heart condition: hypertrophic cardiomyopathy (HCM).

The research could potentially save lives and indicate risk factors among those carrying the gene.

HCM is the most widespread hereditary heart disease in the world. However, genetic screening can potentially save lives.

HCM, which is not curable and rarely diagnosed, affects one out of 500 people.

The disease is often associated with sudden death after vigorous physical activity, and its symptoms include rapid or fluttering heartbeat; swelling in the legs, ankles, feet, abdomen, or neck veins; and shortness of breath, either during physical activity or while at rest.

The study focused on 107 unrelated HCM patients and used exome (the protein-coding regions of the genome) based gene panels to identify genetic variants linked to disease.

The study’s outcome concluded that a genetic mutation of TRIM63 significantly contributed to HCM.

The study was led by Dr. Noa Ruhrman Shahar of Rabin Medical Center (Beilinson Hospital) and Professor Shay Ben-Shachar of the Clalit Research Institute.

“This is a life-saving discovery,” said Dr. Ruhrman Shahar. “Identifying carriers of disease-causing TRIM63 mutations allows early monitoring and intervention, and can significantly decrease the risk of severe, even fatal, cardiac events.”

HMC is an autosomal dominant condition, originates from one of the 22 non-sex chromosomes, and requires transmission from just one parent.

Individuals have a 50% risk if one parent has the gene. They can pass it on to their children if they themselves have HMC.

The study justifies including TRIM63, which had been previously excluded, in commercial HCM gene panels.

It also demonstrates the value of genetic testing and personalized treatment plans for at-risk people.

“This research provides an important insight,” said Prof. Ben-Shachar. “Beyond advancing our scientific understanding, it allows us to prevent complications in thousands of high-risk patients through personalized care.”