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

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• 作者：Mí ; riam Garcia-Bermú ; dez ; MD ; MSc^a ; ^b ; ^{mgarciabermudez@gmail.com} ; Abdel-Hakim Moustafa ; MD^b ; ^c ; Antonio Barró ; s-Membrilla ; MD^b ; ^c ; Helena Tizó ; n-Marcos ; MD ; MSc^a ; ^b
• 刊名：Canadian Journal of Cardiology
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：33
• 期：2
• 页码：292.e1-292.e3
• 全文大小：692 K
• 卷排序：33

文摘

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.