Monash medical student uncovers possible cause of a rare heart condition

James Fahey

Final year Monash University medical student James Fahey has shed light on the possible cause of an uncommon but dangerous cardiovascular disease, spontaneous coronary artery dissection (SCAD).

A former BMedSc(Hons) student at the School of Clinical Sciences at Monash Health (SCS), James published the findings this month in the prestigious Journal of the American College of Cardiology (JACC).

SCAD is an uncommon emergency condition that occurs when a tear forms in one of the blood vessels that supply the heart muscle with a blood supply.  It almost always affects women, often aged less than 50. James said SCAD can slow or block blood flow to the heart, causing a heart attack, abnormalities in heart rhythm or sudden death.

“People who develop SCAD are often healthy, and most don't have risk factors for heart disease, such as high blood pressure and diabetes,” James said.

“Until now, we haven’t known what causes SCAD, although it’s distinct from that of atherosclerosis (narrowing of the arteries due to plaque build-up on the artery walls).”

Most cases of SCAD occur apparently at random. However the key to this study was the identification of a mother and daughter who had SCAD of the left anterior descending coronary artery at age 52 and 40 years respectively.

“Given the rarity of SCAD, we believed there may be a genetic contribution in this mother and daughter pair,” James said.

This study was a collaboration between clinical researchers at MonashHeart who recognised the importance of studying a related pair with SCAD, and basic science researchers at the Australian Regenerative Medicine Institute (ARMI) who performed and analysed whole genome sequencing.

“The F11R gene emerged as the most likely genetic candidate for predisposition to SCAD in this mother and daughter,” James said.

James said that while this study doesn’t yet prove a causal role for F11R in SCAD, this gene is a plausible and logical candidate. The gene is part of the inter-cellular tight junction, and given that SCAD is due to a tear in the artery wall, it seems to be a very plausible explanation.

James’ BMedSc(Hons) research year was supervised by Dr Tony White from MonashHeart and Dr Mirana Ramialison from ARMI.