Home Latest news Management of Aortic Disease in Children with FBN1-Related Marfan Syndrome: Key Insights from a European Consensus Statement

Management of Aortic Disease in Children with FBN1-Related Marfan Syndrome: Key Insights from a European Consensus Statement

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Marfan Syndrome (MFS) is a hereditary connective tissue disorder affecting 1 in 5,000–10,000 individuals globally. Known for its pleiotropic effects, MFS often manifests with hallmark features in the ocular, skeletal, and cardiovascular systems. Among these, aortic root dilatation is the most severe cardiovascular complication, which, if untreated, can progress to life-threatening aortic dissection, primarily in adulthood. However, with timely diagnosis, vigilant monitoring, and appropriate intervention, the risk of aortic events can be significantly reduced.

Despite the critical importance of early intervention, current treatment protocols for children with MFS are largely extrapolated from adult guidelines due to the lack of dedicated pediatric studies. This inconsistency in management practices across centers underscores the need for unified recommendations tailored to the pediatric population.
To address these gaps, the paediatric subgroup of the European Reference Network of Vascular Diseases (VASCERN) and the Association for European Paediatric and Congenital Cardiology (AEPC) have developed a consensus document. This collaborative effort involved a panel of experts from 12 centers across 8 countries, focusing on four essential aspects of pediatric MFS care:
1. Aortic Imaging
o Recommendations for diagnostic and follow-up imaging of the aorta to monitor disease progression and guide clinical decisions.
2. Medical Treatment
o Guidance on pharmacological management to slow aortic dilatation and reduce the risk of dissection.
3. Surgical Treatment
o Criteria and timing for surgical interventions in children to address severe aortic pathology.
4. Sports Participation
o Tailored advice on safe levels of physical activity to minimize cardiovascular strain while supporting overall health and well-being.
Read the complete statement here.

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