Management of aortic disease in children with FBN1-related Marfan syndrome.

Autor:	Muiño-Mosquera L; Department of Paediatrics, division of Paediatric Cardiology, Ghent University Hospital, C. Heymanslaan 10, Ghent 9000, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Cervi E; Inherited Cardiovascular Diseases Centre, Cardiology, Great Ormond Street Hospital, London, United Kingdom., De Groote K; Department of Paediatrics, division of Paediatric Cardiology, Ghent University Hospital, C. Heymanslaan 10, Ghent 9000, Belgium., Dewals W; Department of Paediatrics, division of Paediatric Cardiology, Antwerp University Hospital, Antwerp, Belgium., Fejzic Z; Department of Paediatrics, division of Paediatric Cardiology, Radboud University Medical Centre, Nijmegen, The Netherlands., Kazamia K; Department of Paediatric Cardiology, Stockholm-Uppsala, Karolinska University Hospital, Stockholm, Sweden.; Department of Women's and Children's Health, Karolinska University Hospital, Stockholm, Sweden., Mathur S; Department of Cardiovascular Imaging, Guy's and St Thomas Hospital, London, United Kingdom., Milleron O; Centre de réference pour le syndrome de Marfan et apparentés, Department of Cardiology, Bichat Claude Bernard Hospital, Université Paris Cité, INSERM U1148, Paris, France., Mir TS; Childrens Heart Centre, Paediatric Cardiology, University Clinics Hamburg, Hamburg, Germany., Nielsen DG; Department of Cardiology, Aarhus University Hospital, Aarhus, Denmark., Odermarsky M; Children Heart Centre, Skane University Hospital, Lund, Sweden., Sabate-Rotes A; Department of Paediatric Cardiology, Hospital Vall D'Hebron, Barcelona, Spain., van der Hulst A; Department of Paediatrics, Division of Paediatric Cardiology, Amsterdam University Medical Centre, Amsterdam, The Netherlands., Valenzuela I; Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Barcelona, Spain., Jondeau G; Centre de réference pour le syndrome de Marfan et apparentés, Department of Cardiology, Bichat Claude Bernard Hospital, Université Paris Cité, INSERM U1148, Paris, France.
Jazyk:	angličtina
Zdroj:	European heart journal [Eur Heart J] 2024 Oct 14; Vol. 45 (39), pp. 4156-4169.
DOI:	10.1093/eurheartj/ehae526
Abstrakt:	Marfan syndrome (MFS) is a hereditary connective tissue disorder with an estimated prevalence of 1:5000-1:10 000 individuals. It is a pleiotropic disease characterized by specific ocular, cardiovascular, and skeletal features. The most common cardiovascular complication is aortic root dilatation which untreated can lead to life-threatening aortic root dissection, mainly occurring in adult patients. Prompt diagnosis, appropriate follow-up, and timely treatment can prevent aortic events. Currently there are no specific recommendations for treatment of children with MFS, and management is greatly based on adult guidelines. Furthermore, due to the scarcity of studies including children, there is a lack of uniform treatment across different centres. This consensus document aims at bridging these gaps of knowledge. This work is a joint collaboration between the paediatric subgroup of the European Network of Vascular Diseases (VASCERN, Heritable Thoracic Aortic Disease Working Group) and the Association for European Paediatric and Congenital Cardiology (AEPC). A group of experts from 12 different centres and 8 different countries participated in this effort. This document reviews four main subjects, namely, (i) imaging of the aorta at diagnosis and follow-up, (ii) recommendations on medical treatment, (iii) recommendations on surgical treatment, and (iv) recommendations on sport participation. (© The Author(s) 2024. Published by Oxford University Press on behalf of the European Society of Cardiology.)
Databáze:	MEDLINE
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