Journal Article

Marfan syndrome. Part 2: treatment and management of patients

Bruna, Isidoro, Fuster, Valentin, Vilacosta, Isidre, Cañadas, Victoria

2010

Overview

Over the past 30 years, we have witnessed a steady improvement in life expectancy of patients with Marfan syndrome, owing to advances in various treatments. In Part 2 of a 2-part Review on Marfan syndrome, Dr. Cañadas and colleagues discuss the present the state of the art in the management of patients with this disease. Aortic disease is the main cause of death among patients with Marfan syndrome. Before the development of open surgery, most patients died in the fourth decade of life. Improvements in surgical techniques have facilitated prophylactic surgery and have dramatically changed the life expectancy of patients with Marfan syndrome. Valve-sparing techniques are becoming the standard surgical treatment for these patients, since the operative and long-term results are comparable with those obtained with the Bentall and De Bono procedure and their theoretical advantages over the Bentall and De Bono procedure are attractive for young patients. Distal aortic complications still cause substantial morbidity in patients who have undergone surgery. On the other hand, several medical approaches have appeared as alternatives or adjuncts to the standard treatment with β-blockers. Mouse models of the disease have shown that the angiotensin II receptor blocker losartan can rescue the phenotype. Among female patients, pregnancy deserves special consideration. Aortic dissection occurs mainly in the third trimester of gestation and in patients with dilated aortas. As aortic dissection carries a high risk of maternal mortality and fetal demise, prophylactic aortic surgery is recommended before attempting pregnancy for those women with an aortic diameter exceeding 40 mm. Key Points Prognosis in Marfan syndrome is mainly determined by aortic complications Prophylactic aortic surgery has dramatically changed the prognosis of Marfan syndrome in the past few decades Aortic root replacement is indicated if aortic diameter exceeds 50 mm; however, a lower threshold is often considered Despite the lack of solid evidence, β-blockers are the standard medical treatment for patients with Marfan syndrome Angiotensin II receptor blockers have emerged as a potentially better alternative to β-blockers for patients with Marfan syndrome Pregnancy represents a challenge for female patients with Marfan syndrome, with the most feared complication being the risk of aortic dissection

• Publisher: Nature Publishing Group UK,Nature Publishing Group
• Subject: 692/699/75/1539 / 692/700/1750 / 692/700/565/545 / Adrenergic beta blockers / Adrenergic beta-Antagonists - therapeutic use / Angiotensin / Animals / Aortic Aneurysm, Thoracic - etiology / Aortic Aneurysm, Thoracic - mortality / Aortic Aneurysm, Thoracic - surgery / Blood Vessel Prosthesis Implantation / Cardiac Imaging / Cardiac Surgery / Cardiology / Care and treatment / Cohort Studies / Diagnosis / Disease Models, Animal / Female / Health aspects / Humans / Male / Marfan syndrome / Marfan Syndrome - complications / Marfan Syndrome - drug therapy / Marfan Syndrome - mortality / Marfan Syndrome - surgery / Medicine / Medicine & Public Health / Mice / Mitral Valve Prolapse - etiology / Mitral Valve Prolapse - mortality / Mitral Valve Prolapse - surgery / Monitoring, Physiologic - methods / Physiological aspects / Pregnancy / Pregnancy Complications, Cardiovascular - etiology / Pregnancy Complications, Cardiovascular - prevention & control / Prognosis / Renin-Angiotensin System - drug effects / review-article / Risk Assessment / Severity of Illness Index / Survival Analysis / Treatment Outcome