Familial Spontaneous Coronary Artery Dissection and the SMAD-3 Mutation.

Spontaneous coronary artery dissection (SCAD) is a cause of about 4% of acute coronary syndrome. The pathophysiology of SCAD is not yet fully understood. Loeys-Dietz syndrome is a connective tissue disorder characterized by aortic aneurysms, arterial tortuosity, and aortic dissections. It is caused by mutations in the genes affecting the transforming growth factor β pathway. We describe a family with a SMAD3 gene mutation and Loeys-Dietz syndrome presenting with recurrent SCAD episodes.