Management of aortic disease in children with FBN1-related Marfan syndrome: a joint statement from the paediatric subgroup of the European Reference Network of Vascular Diseases (VASCERN, Heritable Thoracic Aortic Disease working group) and the Association for European Paediatric and Congenital Cardiology (AEPC)
(2024) In European Heart Journal p.1-14- Abstract
- 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... (More)
- 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. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/152e0699-629c-4743-9021-0b08b6aa918d
- author
- Muiño-Mosquera, Laura
; Cervi, Elena
; De Groote, Katya
; Dewals, Wendy
; Fejzic, Zina
; Kazamia, Kalliopi
; Mathur, Sujeev
; Milleron, Olivier
; Mir, Thomas S.
; Nielsen, Dorte G.
; Odermarsky, Michal
LU
; Sabate-Rotes, Anna
; van der Hulst, Annelies
; Valenzuela, Irene
and Jondeau, Guillaume
(Less) - publishing date
- 2024-09-09
- type
- Contribution to journal
- publication status
- epub
- in
- European Heart Journal
- article number
- ehae526
- pages
- 1 - 14
- publisher
- Oxford University Press
- external identifiers
-
- pmid:39250726
- ISSN
- 1522-9645
- DOI
- 10.1093/eurheartj/ehae526
- language
- English
- LU publication?
- no
- id
- 152e0699-629c-4743-9021-0b08b6aa918d
- date added to LUP
- 2024-07-10 11:33:57
- date last changed
- 2024-09-11 03:00:02
@article{152e0699-629c-4743-9021-0b08b6aa918d,
abstract = {{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.}},
author = {{Muiño-Mosquera, Laura and Cervi, Elena and De Groote, Katya and Dewals, Wendy and Fejzic, Zina and Kazamia, Kalliopi and Mathur, Sujeev and Milleron, Olivier and Mir, Thomas S. and Nielsen, Dorte G. and Odermarsky, Michal and Sabate-Rotes, Anna and van der Hulst, Annelies and Valenzuela, Irene and Jondeau, Guillaume}},
issn = {{1522-9645}},
language = {{eng}},
month = {{09}},
pages = {{1--14}},
publisher = {{Oxford University Press}},
series = {{European Heart Journal}},
title = {{Management of aortic disease in children with FBN1-related Marfan syndrome: a joint statement from the paediatric subgroup of the European Reference Network of Vascular Diseases (VASCERN, Heritable Thoracic Aortic Disease working group) and the Association for European Paediatric and Congenital Cardiology (AEPC)}},
url = {{http://dx.doi.org/10.1093/eurheartj/ehae526}},
doi = {{10.1093/eurheartj/ehae526}},
year = {{2024}},
}