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January 20 2020
Research News: new collaborative publication presents the less common features of Marfan syndrome not listed in the Ghent nosology
A new collaborative publication entitled Features of Marfan syndrome not listed in the Ghent nosology – the dark side of the disease has been published in Expert Review of Cardiovascular Therapy. It is co-authored by members of the Heritable Thoracic Aortic Diseases Working Group (HTAD WG) including Prof. Julie De Backer (HTAD WG Chair), Prof. Yskert von Kodolitsch, Dr. Katalin Szöcs and Dr. Leema Robert (equally Chair of the Medium-Sized Arteries Working Group).
This publication started with the help of the German Marfan Organisation (Marfan Hilfe Deutschland e.V.), who provided a list of unusual symptoms and complaints from Marfan patients (i.e. their members and others seeking their advice) to the clinical experts who extensively reviewed the literature on the clinical features of Marfan syndrome not listed in the Ghent nosology and who then compiled, evaluated and gave their expert opinion on the clinical significance of each feature.
“We performed a review of clinical features of the Marfan syndrome that are not listed in the Ghent nosology. This review yielded the following major results:
● Patients report symptoms and complaints that experts may not have in their focus of study and research.
● Bicuspid aortic valve, aneurysm of the cerebral arteries, cognitive dysfunction, and schizophrenia may be removed from the list of potential manifestations of the Marfan syndrome.
● Tricuspid valve prolapse, cardiomyopathy, sleep apnea, vascular disease of the aortic branching vessels, and liver and kidney cysts emerge as manifestations of the Marfan syndrome.
● Heart failure, supraventricular and ventricular arrhythmia, restrictive lung disease, headache, fatigue, and chronic pain are features that complicate the natural or medical course of Marfan syndrome.
● The image of Marfan syndrome as a whole is in transition from a monogenetic disease of isolated organ system involvement (‘multisystemic’) of the young and slender to a multifactorial generalized atherosclerotic and degenerative (‘generalized’) disease of the older and obese.”