Rare loss-of-function mutations in PTGIR are associated with fibromuscular dysplasia and spontaneous coronary artery dissection, implicating prostacyclin signaling in non-atherosclerotic stenosis and dissection.
Our study shows that rare genetic mutations in PTGIR are enriched among FMD patients and found in SCAD patients, suggesting a role for prostacyclin signalling in non-atherosclerotic stenosis and dissection.
Georges et al. (Sun,) studied this question.