Management of aortic disease in children with FBN1-related Marfan syndrome.

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.

Characteristics and Outcomes in Patients With Acute Aortic Dissection: A Nationwide Registry Study.

BACKGROUND: We aimed to describe characteristics and outcomes in a nationwide population of patients with acute type A and type B aortic dissection. METHODS: All patients in Denmark with a first-time diagnosis of acute aortic dissection between 2006 and 2015 were identified by national registries. The main outcomes were in-hospital mortality and long-term survival in hospital survivors. RESULTS: The study population comprised 1157 (68%) patients with type A aortic dissection and 556 (32%) patients with type B aortic dissection, median age of 66 (57-74) years and 70 (61-79) years, respectively. Men accounted for 64%. Median follow-up was 8.9 (6.8-11.5) years. Of patients with type A aortic dissection, 74% were managed surgically, whereas 22% of the patients with type B aortic dissection were managed with surgery or endovascular technique. In-hospital mortality was 27% for type A aortic dissection overall (surgery, 18%; no surgery, 52%) and 16% for type B aortic dissection (surgery or endovascular treatment, 13%; conservative treatment, 17%; P < .001, type A vs type B). Of patients discharged alive, survival was persistently better for type A aortic dissection than for type B aortic dissection (P < .001). Unadjusted 1- and 3-year survival of patients with type A aortic dissection discharged alive was 96% and 91%, respectively, for surgically managed and 88% and 78% without surgery. For type B aortic dissection, the numbers were 89% and 83% for endovascular/surgically managed and 89% and 77% for conservatively managed. CONCLUSIONS: We found higher in-hospital mortality for type A and type B aortic dissection than is reported from referral center registries. Type A aortic dissection had the highest mortality rate during the acute phase, whereas for patients who were discharged alive, the mortality rate was higher for patients with type B aortic dissection.