Unlocking the Genetic Mystery Behind SCAD: A New Approach to Prevention and Treatment for Women’s Heart Health

2023-06-01 16:25:00

Genetics seems to largely explain a form of infarction which mainly affects women under 60 years old, in good health, according to the results of a large study which might allow better management of these patients.

“I had no cholesterol, I was athletic, I did not present the usual profile”, is still surprised Gaëlle Martin, 59, victim of a heart attack five years ago.

For a long time, women were considered relatively protected once morest cardiovascular disease.

However, unlike myocardial infarction, which mainly affects elderly or overweight men, spontaneous dissection of the coronary artery, better known by the acronym “SCAD”, is a cause of infarction of which nine out of ten victims are women between 40 and 60 years old, in apparent good health.

Gaëlle Martin must now take lifelong treatment to thin her blood and regulate her blood pressure.

When she felt pain in her chest, the first signs of her heart attack, she first said to herself: “I’m not going to call the Samu! “. It is finally SOS doctors who will redirect her to the 15th. Support at the hospital, an examination of the arteries will reveal her SCAD.

“The victims often seem to present the same profile: women, active, rather stressed”, describes to AFP this teacher in Rennes, who learned to listen to herself and found support on a Facebook group created in 2019.

In SCAD, the inner wall of an artery tears and separates from the outer wall. The circulating blood enters the tear, spreads in the space between the two walls and forms a clot which, in fine, narrows the passage in the artery and blocks the blood circulation.

Feminine and understudied disease

Still poorly understood, this disease often remains under-diagnosed, which complicates its management, whereas it might represent up to a third of cases of infarction in women under 60 years of age.

The team of geneticist Nabila Bouatia-Naji, from the “Paris cardiovascular research center” (Inserm and Paris Cité University), has carried out extensive work on the subject, coordinating a meta-analysis of eight studies, which provides new light on the genetic causes of this disease.

By comparing the genetic data of more than 1,900 patients and regarding 9,300 non-diseased people, the scientists showed that the genetic causes that define the risk of SCAD are very numerous and distributed over the entire genome of patients. , details a study published this week in Nature Genetics.

The poor resorption of the hematoma would be a cause of genetic origin of the infarction, unknown until now, according to these results.

“This opens up avenues for future drug treatments,” Nabila Bouatia-Naji told AFP.

A better understanding of genetic predispositions might make it possible to identify the patients most at risk, in order to improve prevention in women, especially young women.

The study goes further since the scientists also demonstrated a robust link between high blood pressure and the risk of SCAD, while confirming that high cholesterol, overweight and type 2 diabetes did not have no impact on this risk.

“SCAD is a poorly studied disease because it is atypical and predominantly female. Our work sheds light on its genetic and biological specificities, which will help us to better care for patients in the future”, emphasizes the geneticist.

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