JAK2V617F mutation in a patient with recurrent spontaneous coronary artery dissection: a case report

Spontaneous coronary artery dissection (SCAD) is an increasingly recognized cause of acute coronary syndrome in younger women. The primary mechanism of SCAD remains unclear, but predisposing factors appear to include connective disease disorders and inflammation. The JAK2V617F mutation is associated with chronic inflammation and increased cardiovascular risk, but its potential role in SCAD is unclear. This case is reported to highlight a possible association between SCAD and JAK2V617F mutation. A 40-year-old white Danish woman with no prior history of cardiovascular disease (CVD), no smoking or family history of CVD presented with recurrent SCAD, and a positive JAK2V617F mutation. The patient was treated with antiplatelet and beta-blocker therapy, and no other predisposing conditions were identified. This case illustrates recurrent SCAD in a patient with no traditional cardiovascular risk factors and a JAK2V617F mutation. The JAK2V617F mutation may represent one of several predisposing genetic factors for SCAD. Further studies are needed to elucidate the role of JAK2V617F and other clonal hematopoiesis-associated mutations in the etiology of SCAD.