Gene Causes Sudden Death in Young People

Researchers from Canada, South Africa and Italy have identified the new gene, called CDH2. It causes arrhythmogenic right ventricle cardiomyopathy (ARVC), which is a genetic disorder that predisposes patients to cardiac arrest and is a major cause of unexpected death in seemingly healthy young people.

The discovery, published in Circulation: Cardiovascular Genetics, is the result of international collaboration that began 15 years ago. It is led by a South African team, along with researchers of the Italian Auxologico Institute of Milan and the University of Pavia.

"This is important news for families who have had a young family member suffer a sudden cardiac death, for them to know a genetic cause has been identified," said Paré, who is an associate professor of pathology and molecular medicine with the Michael G. DeGroote School of Medicine.

"Our team was happy to contribute to the finding that a mutation in CDH2 is the underlying culprit in a portion of these patients. This will pave the way for preventative interventions and genetic counselling."

According to the Heart and Stroke Foundation of Canada, there are about 40,000 cardiac arrests in Canada each year, and less than one in 10 people are estimated to survive a cardiac arrest that happens outside of a hospital.

The researchers said identifying the gene is important because it helps to clarify the genetic mechanisms underlying ARVC, and it also makes the early detection of ARVC possible in otherwise unsuspecting people.

Often, the diagnostic clinical signs of the disease only become clear after many years. However, if a subject with ARVC is a carrier of a mutation on the gene CDH2, other members of his family who are genetically affected can be identified within a few weeks and preventive strategies could be started immediately. This may lead to a reduction of cases of sudden death in patients with the mutation, the researchers concluded.