Aortic disease in children with Marfan syndrome

This month we recommend a very interesting article entitled: “Management of aortic disease in children with FBN1-related Marfan syndrome” (European Heart Journal (2024) 45, 4156–4169) The aim of the document is to provide guidance for the follow-up and treatment of children with MFS.

It is 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). The article begins with a very nice graphical abstract which is an overview of the four main topics addressed along this joint statement and the most important questions addressed within each topic. This document focuses on follow-up and treatment of aortic disease in children with Marfan syndrome and carrying a pathogenic variant in the fibrillin-1 (FBN1) gene.

This document is a response to the absence of specific recommendations for treatment of children with MFS in which management is greatly based on adult guidelines. The document provides recommendations based on clinical evidence or on expert opinion.

It reviews all the fundamental aspects of Marfan Syndrome in childhood, from the imaging techniques used and the way of performing the measurements to recommendations regarding medical and surgical treatment, without forgetting the aspect of sports practice.

In the case of imaging of aorta, recommendations about echocardiography, MRI and computed tomography angiography are considered.  About medical treatment recommendations about beta blockers (BBs) and angiotensin receptor blockers (ARBs), especially losartan are provided. Evidence to substantiate the effectiveness of angiotensin-converting enzyme inhibitors (ACE-I) in attenuating aortic dilatation is currently lacking but hey can be considered in patients who have contraindications to BBs and ARBs. About surgical treatment, there are no specific thresholds for preventive aortic root surgery in children with MFS. Current indications are mostly based on absolute aortic root diameters, annual growth rate, and the indication for concomitant valve surgery. The majority of the centres follow the existing adult AHA/ESC guidelines. Finally, recommendations about sports activities in children are also provided.

The manuscript includes a Table with a summary of the different recommendations and level of agreement. 
In conclusion, a very interesting and completely recommended article with a very good clinical perspective.