Link: https://www.ncbi.nlm.nih.gov/pubmed/31829751

Expert Rev Cardiovasc Ther. 2019 Dec;17(12):883-915. doi: 10.1080/14779072.2019.1704625.
Features of Marfan syndrome not listed in the Ghent nosology - the dark side of the disease.
von Kodolitsch Y1, Demolder A2, Girdauskas E1, Kaemmerer H3, Kornhuber K3, Muino Mosquera L4, Morris S5, Neptune E6, Pyeritz R7, Rand-Hendriksen S8, Rahman A9, Riise N8, Robert L10, Staufenbiel I9, Szöcs K1, Vanem TT8,11, Linke SJ12,13, Vogler M14, Yetman A15, De Backer J2.
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Abstract
Introduction: The revised Ghent nosology presents the classical features of Marfan syndrome. However, behind its familiar face, Marfan syndrome hides less well-known features.Areas covered: 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, ( 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.Expert commentary: Future research, nosologies, and guidelines may consider less well-known features of Marfan syndrome.

KEYWORDS:
FBN1; Ghent nosology; Marfan syndrome; adiposity; aortic valve; arrhythmia; dental; hemostasis; lung; manifestations; mitral valve; muscle; myocardium; psychology; skeleton; sleep; urogenital; vascular

PMID: 31829751 DOI: 10.1080/14779072.2019.1704625