Castellano José M, Silvay George, Castillo Javier G
Cardiovascular Institute, Mount Sinai Medical Center, New York, NY, USA Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain
Department of Anesthesiology, Mount Sinai Medical Center, New York, NY, USA.
Semin Cardiothorac Vasc Anesth. 2014 Sep;18(3):260-71. doi: 10.1177/1089253213513842. Epub 2013 Dec 5.
Marfan syndrome is a multisystem connective tissue disorder, with primary involvement of the cardiovascular, ocular, and skeletal systems. This autosomal heritable disease is mainly attributable to a defect in the FBN1 gene. Clinical diagnosis of Marfan syndrome has been based on the Ghent criteria since 1996. In 2010, these criteria were updated, and the revised guidelines place more emphasis on aortic root dilation, ectopia lentis, and FBN1 mutation testing in the diagnostic assessment of Marfan syndrome. Among its many different clinical manifestations, cardiovascular involvement deserves special consideration, owing to its impact on prognosis. Recent molecular, surgical, and clinical research has yielded profound new insights into the pathological mechanisms that ultimately lead to tissue degradation and weakening of the aortic wall, which has led to exciting new treatment strategies. Furthermore, with the increasing life expectancy of patients with Marfan syndrome, there has been a subtle shift in the spectrum of medical problems. Consequently, this article focuses on recent advances to highlight their potential impact on future concepts of patient care from a clinical, surgical, and anesthetic perspective.
马凡综合征是一种多系统结缔组织疾病,主要累及心血管、眼和骨骼系统。这种常染色体显性遗传病主要归因于FBN1基因缺陷。自1996年以来,马凡综合征的临床诊断一直基于根特标准。2010年,这些标准得到更新,修订后的指南在马凡综合征的诊断评估中更加强调主动脉根部扩张、晶状体异位和FBN1基因突变检测。在其众多不同的临床表现中,心血管受累因其对预后的影响而值得特别关注。最近的分子、外科和临床研究对最终导致主动脉壁组织降解和薄弱的病理机制有了深刻的新见解,这带来了令人兴奋的新治疗策略。此外,随着马凡综合征患者预期寿命的增加,医疗问题的范围也发生了微妙的变化。因此,本文重点介绍最近的进展,从临床、外科和麻醉角度突出它们对未来患者护理理念的潜在影响。