von Kodolitsch Yskert, Demolder Anthony, Girdauskas Evaldas, Kaemmerer Harald, Kornhuber Katharina, Muino Mosquera Laura, Morris Shaine, Neptune Enid, Pyeritz Reed, Rand-Hendriksen Svend, Rahman Alexander, Riise Nina, Robert Leema, Staufenbiel Ingmar, Szöcs Katalin, Vanem Thy Thy, Linke Stephan J, Vogler Marina, Yetman Anji, De Backer Julie
German Aorta Center Hamburg at University Hospital Hamburg Eppendorf University Heart Centre, Clinics for Cardiology and Heart Surgery, VASCERN HTAD European Reference Centre.
Center for Medical Genetics and Department of Cardiology, Ghent University Hospital, VASCERN HTAD European Reference Centre, Ghent, Belgium.
Expert Rev Cardiovasc Ther. 2019 Dec;17(12):883-915. doi: 10.1080/14779072.2019.1704625.
: The revised Ghent nosology presents the classical features of Marfan syndrome. However, behind its familiar face, Marfan syndrome hides less well-known features.: The German Marfan Organization listed unusual symptoms and clinical experts reviewed the literature on clinical features of Marfan syndrome not listed in the Ghent nosology. Thereby we identified the following features: (1) bicuspid aortic valve, mitral valve prolapse, pulmonary valve prolapse, tricuspid valve prolapse, (2) heart failure and cardiomyopathy, (3) supraventricular arrhythmia, ventricular arrhythmia, and abnormal repolarization, (4) spontaneous coronary artery dissection, anomalous coronary arteries, and atherosclerotic coronary artery disease, tortuosity-, aneurysm-, and dissection of large and medium-sized arteries, (5) restrictive lung disease, parenchymal lung disease, and airway disorders, (6) obstructive- and central sleep apnea, (7) liver and kidney cysts, biliary tract disease, diaphragmatic hernia, and adiposity, (8) premature labor, and urinary incontinence, (9) myopathy, reduced bone mineral density, and craniofacial manifestations, (10) atrophic scars, (11) caries, and craniomandibular dysfunction, (12) headache from migraine and spontaneous cerebrospinal fluid leakage, (13) cognitive dysfunction, schizophrenia, depression, fatigue, and pain, (14) and activated fibrinolysis, thrombin, platelets, acquired von Willebrand disease, and platelet dysfunction.: Future research, nosologies, and guidelines may consider less well-known features of Marfan syndrome.
修订后的根特分类法呈现了马凡综合征的经典特征。然而，在其为人熟知的表象之下，马凡综合征还隐藏着一些鲜为人知的特征。德国马凡组织列出了不寻常的症状，临床专家查阅了根特分类法未列出的马凡综合征临床特征的文献。由此我们确定了以下特征：（1）二尖瓣主动脉瓣、二尖瓣脱垂、肺动脉瓣脱垂、三尖瓣脱垂；（2）心力衰竭和心肌病；（3）室上性心律失常、室性心律失常和复极异常；（4）自发性冠状动脉夹层、冠状动脉异常和动脉粥样硬化性冠状动脉疾病、大中型动脉迂曲、动脉瘤和夹层；（5）限制性肺病、实质性肺病和气道疾病；（6）阻塞性和中枢性睡眠呼吸暂停；（7）肝肾囊肿、胆道疾病、膈疝和肥胖；（8）早产和尿失禁；（9）肌病、骨密度降低和颅面表现；（10）萎缩性瘢痕；（11）龋齿和颅下颌功能障碍；（12）偏头痛引起的头痛和自发性脑脊液漏；（13）认知功能障碍、精神分裂症、抑郁症、疲劳和疼痛；（14）纤维蛋白溶解、凝血酶、血小板激活、获得性血管性血友病和血小板功能障碍。未来的研究、分类法和指南可能会考虑马凡综合征鲜为人知的特征。
