title: Repeated Loss of Consciousness in a Young Woman: A Suspicious SMAD3 Mutation Underlying Spontaneous Coronary Artery Dissection.
abstract: 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.
authors.affiliation: Cardiology Department, Hospital del Mar, Barcelona, Heart Diseases Biomedical Research Group, IMIM (Hospital del Mar Medical Research Institute), Barcelona, Universitat Autònoma de Barcelona, Barcelona, Spain; Medicine Department, Universitat Autònoma de Barcelona, Barcelona, Spain. Electronic address: mgarciabermudez@gmail.com.
authors.forename: Míriam
authors.initials: M
authors.lastname: Garcia-Bermúdez
authors.affiliation: Medicine Department, Universitat Autònoma de Barcelona, Barcelona, Spain; Cardiology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
authors.forename: Abdel-Hakim
authors.initials: AH
authors.lastname: Moustafa
authors.affiliation: Medicine Department, Universitat Autònoma de Barcelona, Barcelona, Spain; Cardiology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
authors.forename: Antonio
authors.initials: A
authors.lastname: Barrós-Membrilla
authors.affiliation: Cardiology Department, Hospital del Mar, Barcelona, Heart Diseases Biomedical Research Group, IMIM (Hospital del Mar Medical Research Institute), Barcelona, Universitat Autònoma de Barcelona, Barcelona, Spain; Medicine Department, Universitat Autònoma de Barcelona, Barcelona, Spain.
authors.forename: Helena
authors.initials: H
authors.lastname: Tizón-Marcos
mesh_terms: D000328:Adult; D017023:Coronary Angiography; D003330:Coronary Vessel Anomalies / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D006801:Humans; D009154:Mutation; D051900:Smad3 Protein / Q000235:genetics* / Q000378:metabolism; D018084:Ultrasonography, Interventional; D014474:Unconsciousness / Q000175:diagnosis / Q000209:etiology*; D014652:Vascular Diseases / Q000150:complications / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics
chemical_list: C497790:SMAD3 protein, human; D051900:Smad3 Protein; D004247:DNA