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Canadian Journal of Cardiology
Case Report| Volume 33, ISSUE 2, P292.e1-292.e3, February 2017

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

  • Míriam Garcia-Bermúdez
    Correspondence
    Corresponding author: Dr Míriam Garcia-Bermúdez, Hospital del Mar, Passeig Marítim 25, Barcelona, Spain. Tel.: 932483589; fax: 932483666.
    Affiliations
    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
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  • Abdel-Hakim Moustafa
    Affiliations
    Medicine Department, Universitat Autònoma de Barcelona, Barcelona, Spain

    Cardiology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
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  • Antonio Barrós-Membrilla
    Affiliations
    Medicine Department, Universitat Autònoma de Barcelona, Barcelona, Spain

    Cardiology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
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  • Helena Tizón-Marcos
    Affiliations
    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
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Published:September 24, 2016DOI:https://doi.org/10.1016/j.cjca.2016.09.004

      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.

      Résumé

      La dissection spontanée de l’artère coronaire (DSAC), une cause rare du syndrome coronarien aigu, est souvent sous-diagnostiquée. L’hématome intramural est le signe angiographique le plus fréquent ; son diagnostic difficile peut nécessiter des techniques d’imagerie intravasculaire pour le confirmer et orienter le traitement. Il touche principalement les jeunes femmes qui n’ont pas de facteurs de risque coronarien et est habituellement associé à la dysplasie fibromusculaire. La DSAC dissimule une maladie sous-jacente chez 80 % des patients. Une mutation SMAD3 a été associée au syndrome d’ostéoarthrite-anévrisme et a été considérée comme une cause de la forme familiale d’anévrisme et de dissection de l’aorte thoracique. À notre connaissance, le cas décrit ci-après serait le premier cas déclaré d’une mutation SMAD3 sous-jacente à la DSAC.
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