PDF(Pubmed)
Abstract：
Marfan syndrome is a rare autosomal dominant disorder of the connective tissue. It results in a mutation in the Fibrillin-1 protein gene. We present a case of Marfan\'s syndrome in a young adult with life-threatening, sudden onset of chest pain secondary to a non-ST elevation myocardial infarction (NSTEMI) in the setting of an aortic pseudoaneurysm. Taking into consideration potential life-threatening underlying processes, a thorough and detailed methodology must be undertaken when encountering chest pain in a Marfan\'s syndrome patient. This case highlights the importance of utilizing a multi-disciplinary approach to the complexities of Marfan syndrome.
摘要：
马凡氏综合征是一种罕见的结缔组织常染色体显性遗传病。它导致Fibrillin-1蛋白基因突变。我们介绍了一个有生命危险的年轻成年人的马凡氏综合征，在主动脉假性动脉瘤的背景下，继发于非ST段抬高型心肌梗死（NSTEMI）的突然发作的胸痛。考虑到潜在威胁生命的潜在过程，当马凡氏综合征患者遇到胸痛时，必须采取彻底和详细的方法。这个案例强调了利用多学科方法来解决马凡氏综合症的复杂性的重要性。
