Mysterious Death: Is the Cause of Young, Healthy Individuals' Sudden Deaths Discovered?

From time to time, we come across heart-wrenching news of this sort: a healthy soldier collapsed and died during training; a young athletic teenager collapsed and died in the middle of a gym class; a top athlete suddenly died, in front of thousands of shocked spectators.

What causes all these tragic cases? Researchers now believe they have discovered the gene responsible for sudden death among young and athletes. The gene, called CDH2, produces a defective protein responsible for 'gluing' cardiac muscle cells together. As a result, individuals with this gene suffer from a syndrome called ARVC: their heart muscles are not properly connected, leading to accumulations of fat and the muscle cells becoming damaged and scarred. The syndrome can cause a variety of problems, from arrhythmias to sudden and fatal cardiac arrest.

The discovery of the gene is the result of a 15-year collaboration between South African researchers from the University of Cape Town, Italian researchers from the University of Padua, and a group of researchers from McMaster University in Canada who sequenced the DNA to find the defective mutation.

"It is important for families with a young member who died from cardiac arrest to know that a genetic cause has been identified for this phenomenon," say the researchers. Identifying the gene can help detect individuals with ARVC who are therefore at risk of sudden cardiac arrest – even if they currently have no symptoms. For those with a known family member suffering from the syndrome or who, heaven forbid, died from sudden cardiac arrest, the researchers recommend genetic testing. If they also carry the defective gene, there are medical measures that can be taken to protect heart health – and prevent tragic outcomes.