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Ultime notizie dal mondo della genetica


A genetic test to avoid a second heart attack

Survivors of sudden cardiac arrest should take a genetic test to reduce the risk of other episodes. A Swiss study published in the American Journal of Cardiology proves this. Sudden heart attacks are caused by an irregular heart rhythm that destroys the organ's functions.

The sudden loss of functions leads to loss of consciousness and, in most cases, to death. However, if action is taken immediately, it is possible that the person survives. In these cases, it is important to prevent the phenomenon from happening again. The researchers examined 60 patients who survived sudden heart attacks, average age of 34 years. None of them suffered from coronary heart disease at the time of heart attack. Yet, genetic testing revealed abnormalities related to heart disease in two-thirds of them. This could expose them to new problems and a second heart attack.

The team analyzed relevant variants in 185 genes. 32 pathogenic variants emerged in 27 patients, not all with clear cardiac phenotypes. In fact, only 17 had an identifiable cardiac phenotype. Among these, 12 had mutations related to cardiomyopathies and 4 to canalopathies.

Simply put, 16 patients had genetic mutations related to cardiovascular disease. And the others? Of those analyzed, 10 patients did not have a clear cardiac phenotype. Nevertheless, 6 of them were carriers of a mutation in the cardiac ion channel genes. This could explain their heart attack, but the other 4 cases are still unclear.

Source: medtechdive.com

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