Related Experiment Video
Updated: Jun 13, 2025
A Rodent Model of The Ross Operation: Syngeneic Pulmonary Artery Graft Implantation in A Systemic Position
Published on: April 1, 2022
Management of aortic disease in children with FBN1-related Marfan syndrome
Laura Muiño-Mosquera1,2, Elena Cervi3, Katya De Groote1
1Department of Paediatrics, division of Paediatric Cardiology, Ghent University Hospital, C. Heymanslaan 10, Ghent 9000, Belgium.
Insights
Marfan syndrome (MFS) management in children lacks specific guidelines. This consensus provides recommendations for pediatric MFS care, focusing on aortic imaging, medical and surgical treatments, and sports participation.
Area of Science:
- Genetics and rare diseases
- Pediatric cardiology
- Connective tissue disorders
Background:
- Marfan syndrome (MFS) is a hereditary connective tissue disorder affecting multiple systems.
- Aortic root dilatation is a common cardiovascular complication, potentially leading to dissection.
- Current pediatric MFS management relies on adult guidelines, with limited specific research.
Purpose of the Study:
- To address the lack of uniform treatment guidelines for children with Marfan syndrome.
- To provide expert consensus recommendations for pediatric MFS care.
- To bridge knowledge gaps in the diagnosis and management of MFS in children.
Main Methods:
- Joint collaboration between VASCERN and AEPC pediatric subgroups.
- Consensus development by a panel of experts from 12 centers across 8 countries.
- Review of key areas: aortic imaging, medical treatment, surgical treatment, and sports participation.
Main Results:
- The document presents comprehensive recommendations for pediatric Marfan syndrome care.
- Specific guidance is provided for aortic imaging, medical and surgical interventions.
- Recommendations cover appropriate sport participation for children with MFS.
Conclusions:
- This consensus document establishes much-needed guidelines for pediatric Marfan syndrome management.
- Implementing these recommendations can improve diagnosis, follow-up, and treatment of children with MFS.
- Standardized care will help prevent severe cardiovascular events in this population.
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.
