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Potential genetic culprit for spontaneous coronary-artery dissection

JAMA Cardiology
Reuters Health - 24/03/2022 - Mutations in genes that control the production of fibrillar collagen could be a cause of spontaneous coronary-artery dissection (SCAD), new research suggests.

Fibrillar collagen is the most abundant protein in the extracellular matrix and provides shape, strength and stability to blood vessels.

"Our findings have implications for genetic testing of patients with SCAD and other arterial dissections, suggesting that it may be helpful to add genes for some additional collagen isoforms to current test panels," Dr. Mark Lindsay of Massachusetts General Hospital, in Boston, said in a news release.

SCAD is caused by a tear in the artery wall that partially or completely blocks blood flow to the heart. This condition usually presents as a heart attack, is often misdiagnosed and most commonly occurs in otherwise healthy women younger than age 50 years.

Dr. Lindsay and colleagues used whole-exome sequencing to examine genes influencing SCAD risk in 130 adults with and more than 46,000 without SCAD.

In those with SCAD, they identified rare disruptive genetic variants within 10 collagen genes that occurred at a 17-fold higher level than a background of 2,506 other genes expressed in the coronary arteries.

Compared with controls without SCAD, those with SCAD were 1.75-fold (P=0.04) more likely to carry disruptive rare variants within fibrillar-collagen genes.

The findings were further supported by studies in mice.

"Taken together, these data indicate that deficits in the fibrillar collagen system impose arterial fragility and a susceptibility to SCAD," the researchers write in JAMA Cardiology.

"These results may inform clinical exome or genome sequencing in individuals and families with disorders of arterial dissections including SCAD," they add.

SOURCE: https://bit.ly/3JySDtW JAMA Cardiology, online March 2, 2022.

By Reuters Staff

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