Valencia researchers discover ‘sudden death’ heart failure gene

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.

The genetic cause of this has never, until now, been discovered in more than half of those affected.

Before the research at La Fe was completed, the causal link between gene FH0D3 and the development of hypertrophic myocardiopathy had never been proven, but the study reveals it is a factor in a significant percentage of cases, explains professor Valentín Fuster, editor of the JACC.

The research started out by focusing on a large extended family in the Region of Murcia, whose case gave rise to the initial hypothesis of a causal link between the condition and gene FH0D3.

Another family who had already joined the study some time earlier, following a detailed post-mortem of one of its members who had suffered from ‘sudden death’, came under focus.

Initially, the autopsy failed to find a genetic link, but ongoing research by a team of cardiologists, geneticists, pathologists, molecular biologists, technicians and admin staff, all led by Dr Esther Zorio, over more than three years led to this view changing.

Now, anyone with a family history can undergo genetic screening to see whether they are at risk before clinical symptoms of the condition start to emerge.