TY - JOUR
T1 - Features of Marfan syndrome not listed in the Ghent nosology–the dark side of the disease
AU - von Kodolitsch, Yskert
AU - Demolder, Anthony
AU - Girdauskas, Evaldas
AU - Kaemmerer, Harald
AU - Kornhuber, Katharina
AU - Muino Mosquera, Laura
AU - Morris, Shaine
AU - Neptune, Enid
AU - Pyeritz, Reed
AU - Rand-Hendriksen, Svend
AU - Rahman, Alexander
AU - Riise, Nina
AU - Robert, Leema
AU - Staufenbiel, Ingmar
AU - Szöcs, Katalin
AU - Vanem, Thy Thy
AU - Linke, Stephan J.
AU - Vogler, Marina
AU - Yetman, Anji
AU - De Backer, Julie
N1 - Publisher Copyright:
© 2019, © 2019 The Author(s). Informa UK Limited, trading as Taylor & Francis Group.
PY - 2019/12/2
Y1 - 2019/12/2
N2 - 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, (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. Expert commentary: Future research, nosologies, and guidelines may consider less well-known features of Marfan syndrome.
AB - 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, (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. Expert commentary: Future research, nosologies, and guidelines may consider less well-known features of Marfan syndrome.
KW - FBN1
KW - Ghent nosology
KW - Marfan syndrome
KW - adiposity
KW - aortic valve
KW - arrhythmia
KW - dental
KW - hemostasis
KW - lung
KW - manifestations
KW - mitral valve
KW - muscle
KW - myocardium
KW - psychology
KW - skeleton
KW - sleep
KW - urogenital
KW - vascular
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U2 - 10.1080/14779072.2019.1704625
DO - 10.1080/14779072.2019.1704625
M3 - Review article
C2 - 31829751
AN - SCOPUS:85077522474
SN - 1477-9072
VL - 17
SP - 883
EP - 915
JO - Expert review of cardiovascular therapy
JF - Expert review of cardiovascular therapy
IS - 12
ER -