Published 2023-11-22

Genetics of FMD

FMD appears to be both sporadic and familial. However, it should be noted that in contemporary studies, only a minority of patients (1.9–7.3%) with FMD report having an affected family member.

There are currently no genetic tests that are specific to FMD, and there is no justification for genetic testing of asymptomatic relatives of patients with FMD at this time.

Recently, an association was identified between the rs9349379 genotype for a gene located on chromosome 6q24. PHACTR1/EDN1 encoding phosphatase and actin regulator 1 and the occurrence of FMD, SCAD and spontaneous carotid or cerebral artery dissection. Further research on this gene is ongoing. Pending future results regarding a possible genetic basis, relatives of patients with FMD should only undergo clinical examination and imaging evaluation of potentially affected arterial beds upon the occurrence of suggestive symptoms or signs of FMD.