Link: https://pubmed.ncbi.nlm.nih.gov/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
Yskert von Kodolitsch 1, Anthony Demolder 2, Evaldas Girdauskas 1, Harald Kaemmerer 3, Katharina Kornhuber 3, Laura Muino Mosquera 4, Shaine Morris 5, Enid Neptune 6, Reed Pyeritz 7, Svend Rand-Hendriksen 8, Alexander Rahman 9, Nina Riise 8, Leema Robert 10, Ingmar Staufenbiel 9, Katalin Szöcs 1, Thy Thy Vanem 8 11, Stephan J Linke 12 13, Marina Vogler 14, Anji Yetman 15, Julie De Backer 2
Affiliations expand
PMID: 31829751 DOI: 10.1080/14779072.2019.1704625
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.