Nearly one in five patients who die of sudden unexplained cardiac death carry a rare genetic variant.
- In France, around 60,000 people are victims of sudden cardiac death each year.
- Genetic testing is not systematic and could save many people who die of sudden heart problems.
- Undetected genes are associated with life-threatening arrhythmia or heart failure.
Identify the causes of sudden cardiac death to limit the number. American researchers from the University of Maryland have found that nearly 20% of patients with sudden unexplained cardiac death, most of whom were under 50, carry rare genetic variants. According to the foundation heart research, in France around 60,000 people are victims of sudden cardiac death each year. The accident affects 3 to 4 times more men than women, and particularly concerns 45-75 year olds.
Genetic testing is not the norm
In a study published June 2 in the JAMA Cardiology, researchers suggest that genetic variants increase the risk of sudden cardiac death. According to them, their death could have been avoided if their doctors had known about their genetic predisposition to heart disease. “Genetic screening is not routinely used in cardiology and far too many patients still die suddenly from heart disease without having previously established risk factors. We need to do more for them,” said Aloke Finn, professor of medicine at the University of Maryland and lead author of the study.
As part of this research, the scientists carried out genetic sequencing in 413 patients, who died on average at 41 years of age from sudden and unexplained heart failure. Almost two-thirds were male and about half were African American.
No clear guidelines
The results revealed that 18% of patients who suffered sudden death had previously undetected genes associated with life-threatening arrhythmia or heart failure. None had been previously diagnosed with these abnormalities. Their hearts appeared normal on autopsies, with no signs of heart failure or significant blockages in their coronary arteries.
“What we found opens the door and asks important questions. Should we do routine genetic screening in those with a family history of sudden unexplained cardiac death?asks Dr. Finn. Such screening could potentially save lives. It can also leave patients and doctors in a dilemma of what to do with this information. There are currently no clear guidelines on how to monitor or treat patients with these variants in the absence of clinically detectable disease..”
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