Duarte S B C P, Beraldo D O, Cesar L A M, Mansur A P, Takada J Y
Heart Institute (InCor), University of São Paulo Medical School, Enéas de Carvalho de Aguiar Avenue 44, 05403-000 São Paulo, SP, Brazil.
Hospital Renascentista, Salvador dos Santos Nora Avenue 76, 37550-000 Pouso Alegre, MG, Brazil.
Case Rep Cardiol. 2017;2017:3861923. doi: 10.1155/2017/3861923. Epub 2017 Dec 21.
Marfan syndrome is an autosomal dominant genetic disorder that affects connective tissue and is caused by mutations in the fibrillin 1 gene present at chromosome 15. Aortic aneurysm is its main complication, and along the dilation of the aorta root and its descending portion (60-100%), with secondary aortic insufficiency, it increases risk of acute aortic dissection and death. Coronary artery anomalies affect between 0.3% and 1.6% of the general population and are the second leading cause of sudden death in young adults, especially if the anomalous coronary passes through aorta and pulmonary artery. The anomalous origin of the left main coronary artery in the right Valsalva sinus has a prevalence of 0.02%-0.05% and is commonly related to other congenital cardiac anomalies, such as transposition of great vessels, coronary fistulas, bicuspid aortic valve, and tetralogy of Fallot. Its association with Marfan syndrome is not known, and there is no previous report in the literature. We describe here a case of a female with Marfan syndrome diagnosed with symptomatic anomalous origin of the left coronary artery in the right Valsalva sinus.
马凡综合征是一种常染色体显性遗传疾病，会影响结缔组织，由位于15号染色体的原纤蛋白1基因突变引起。主动脉瘤是其主要并发症，随着主动脉根部及其降部扩张（60%-100%），并伴有继发性主动脉瓣关闭不全，会增加急性主动脉夹层和死亡风险。冠状动脉异常在普通人群中的发生率为0.3%至1.6%，是年轻成年人猝死的第二大主要原因，尤其是异常冠状动脉穿过主动脉和肺动脉时。左冠状动脉起源于右冠窦的发生率为0.02%-0.05%，通常与其他先天性心脏异常有关，如大血管转位、冠状动脉瘘、二叶主动脉瓣和法洛四联症。其与马凡综合征的关联尚不清楚，文献中也没有先前的报道。我们在此描述一例患有马凡综合征的女性，被诊断为有症状的左冠状动脉起源于右冠窦。
