Features of Marfan syndrome not listed in the Ghent nosology - the dark side of the disease
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Features of Marfan syndrome not listed in the Ghent nosology - the dark side of the disease. / 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.
in: EXPERT REV CARDIOVAS, Jahrgang 17, Nr. 12, 12.2019, S. 883-915.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Review › Forschung
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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
PY - 2019/12
Y1 - 2019/12
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 - Bone and Bones/pathology
KW - Cardiovascular Diseases/etiology
KW - Humans
KW - Lung/physiopathology
KW - Marfan Syndrome/physiopathology
U2 - 10.1080/14779072.2019.1704625
DO - 10.1080/14779072.2019.1704625
M3 - SCORING: Review article
C2 - 31829751
VL - 17
SP - 883
EP - 915
JO - EXPERT REV CARDIOVAS
JF - EXPERT REV CARDIOVAS
SN - 1477-9072
IS - 12
ER -