title: Marfan Syndrome: Clinical, Surgical, and Anesthetic Considerations.
abstract: 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.
authors: Cardiovascular Institute, Mount Sinai Medical Center, New York, NY, USA Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain jose.castellano@mountsinai.org.
authors: José M
authors: JM
authors: Castellano
authors: Department of Anesthesiology, Mount Sinai Medical Center, New York, NY, USA.
authors: George
authors: G
authors: Silvay
authors: Department of Cardiothoracic Surgery, Mount Sinai Medical Center, New York, NY, USA.
authors: Javier G
authors: JG
authors: Castillo
mesh_terms: D000758:Anesthesia / Q000379:methods*; D005112:Extracorporeal Circulation; D006801:Humans; D008382:Marfan Syndrome / Q000175:diagnosis / Q000188:drug therapy / Q000601:surgery*; D011300:Preoperative Care
keywords: arterial wall mechanics; cardiac anesthesia; cardiac surgery; heart; mitral valve