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.
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