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.

中文翻译：

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FBN1 相关马凡综合征患儿主动脉疾病的管理


马凡综合征 （MFS） 是一种遗传性结缔组织病，估计患病率为 1：5000-1：10 000 个体。它是一种多效性疾病，其特征是特定的眼部、心血管和骨骼特征。最常见的心血管并发症是主动脉根部扩张，如果不及时治疗，可导致危及生命的主动脉根部夹层，主要发生在成年患者中。及时诊断、适当的随访和及时治疗可以预防主动脉事件。目前尚无针对儿童 MFS 治疗的具体建议，治疗主要基于成人指南。此外，由于包括儿童的研究稀缺，不同中心之间缺乏统一的治疗。这份共识文件旨在弥合这些知识差距。这项工作是欧洲血管疾病网络儿科小组 （VASCERN，遗传性胸主动脉疾病工作组） 和欧洲儿科和先天性心脏病学协会 （AEPC） 之间的联合合作。来自 12 个不同中心和 8 个不同国家的一组专家参与了这项工作。本文件回顾了四个主要主题，即 （i） 诊断和随访时的主动脉成像，（ii） 药物治疗建议，（iii） 手术治疗建议，以及 （iv） 参与运动的建议。