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Valencia researchers discover ‘sudden death’ heart failure gene
22 March 2019 @ 20:28

RESEARCHERS at Valencia’s La Fe Hospital have discovered the gene behind the most common hereditary heart condition – one which causes ‘sudden death’ and often affects children and teenagers as they are playing sports.

After sequencing the DNA of 7,000 individuals and selecting a number of families with a history of hypertrophic myocardiopathy via 40 different hospitals, and tracking them over a three-year period, the Institute of Health Research (IIS) at La Fe pinpointed a link between the gene FH0D3 and the condition.

Published in the Journal of the American College of Cardiology (JACC), the report details how patients with a family history of hypertrophic myocardiopathy were able to benefit from more accurate diagnoses allowing them to manage and monitor their conditions.

The discovery of the link between the disorder and gene FH0D3 also opens the door to potential new treatments which could suppress the action of the gene in question.

Hypertrophic myocardiopathy is the most frequent inherited heart condition, affecting one in 500 people, and is associated with a greater risk of ‘sudden death’ and chronic heart failure, as well as a reduction in quality of life for patients because of the symptoms it generates, says the Family Cardiopathies Research Group (CaFaMuSMe) of the IIS.

It occurs when mutations – or changes in DNA levels – in the genes responsible for developing heart muscle are present, meaning the heart becomes enlarged, a condition known as left ventricular hypertrophy.

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