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Research: Features of Marfan syndrome not listed in the Ghent nosology – The Dark Side of the Disease

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Research: Features of Marfan syndrome not listed in the Ghent nosology – The Dark Side of the Disease

Expert Rev Cardiovasc Ther. 2019 Dec 12. doi: 10.1080/14779072.2019.1704625. [Epub ahead of print] https://www.ncbi.nlm.nih.gov/pubmed/31829751

Features of Marfan syndrome not listed in the Ghent nosology – The Dark Side of the Disease.

von Kodolitsch Y1Demolder A2Girdauskas E1Kaemmerer H3Kornhuber K3Muino Mosquera L4Morris S5Neptune E6Pyeritz R7Rand-Hendriksen S8Rahman A9Riise N8Robert L10Staufenbiel I9Szöcs K1Vanem TT8Linke SJ11,12Vogler M13Yetman A14De Backer J2.

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Abstract

Introduction: The revised Ghent nosology presents 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, (8) premature labour, 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 opinion: 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; vascularPMID: 31829751 DOI: 10.1080/14779072.2019.1704625

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