Repeated Loss of Consciousness in a Young Woman: A Suspicious SMAD3 Mutation Underlying Spontaneous Coronary Artery Dissection

Can J Cardiol. 2017 Feb;33(2):292.e1-292.e3. doi: 10.1016/j.cjca.2016.09.004. Epub 2016 Sep 24.


Spontaneous coronary artery dissection (SCAD) is an infrequent cause of acute coronary syndrome and is often underdiagnosed. Intramural hematoma is the most frequent angiographic presentation and is a challenging diagnosis that may require intravascular imaging techniques to confirm it and guide treatment. It affects mostly young women without coronary risk factors and is usually associated with fibromuscular dysplasia. SCAD has an underlying disease in 80% of patients. A SMAD3 mutation has been linked to aneurysm-osteoarthritis syndrome and has been identified as a cause of familial thoracic aortic aneurysm and dissection. The first reported case, to our knowledge, of a SMAD3 mutation underlying SCAD is described here.

Publication types

  • Case Reports
  • Video-Audio Media

MeSH terms

  • Adult
  • Coronary Angiography
  • Coronary Vessel Anomalies / complications
  • Coronary Vessel Anomalies / diagnosis
  • Coronary Vessel Anomalies / genetics*
  • DNA / genetics*
  • DNA Mutational Analysis
  • Humans
  • Mutation*
  • Smad3 Protein / genetics*
  • Smad3 Protein / metabolism
  • Ultrasonography, Interventional
  • Unconsciousness / diagnosis
  • Unconsciousness / etiology*
  • Vascular Diseases / complications
  • Vascular Diseases / congenital*
  • Vascular Diseases / diagnosis
  • Vascular Diseases / genetics


  • SMAD3 protein, human
  • Smad3 Protein
  • DNA

Supplementary concepts

  • Coronary Artery Dissection, Spontaneous