Reis João F, Mano Tânia B, Rito Tiago, Branco Luísa M, Fragata José, Martins José D, Ferreira Rui C, Sousa Lídia
Department of Cardiology, Hospital de Santa Marta, Centro Hospitalar Universitário de Lisboa Central Lisbon, Portugal.
Department of Paediatric Cardiology, Hospital de Santa Marta, Centro Hospitalar Universitário de Lisboa Central Lisbon, Portugal.
Am J Cardiovasc Dis. 2022 Apr 15;12(2):92-101. eCollection 2022.
Marfan Syndrome (MFS) is one of the most common connective tissue disorders. The aim of this study was to characterize an adult population with MFS and evaluate its long-term prognosis.
A retrospective analysis of adult patients with MFS followed up during the past 40 years in a tertiary congenital heart disease outpatient clinic was performed. Survival analysis was performed according to different parameters, and survival curves were compared using the log-rank test.
A total of 62 MFS patients were followed up for a mean period of 12 years (47% male; mean age, 39 years). The baseline mean aortic root diameter (ARD) at the Valsalva sinus was 42.4 ± 10.3 mm, with 15% of patients having moderate-to-severe aortic regurgitation and seven patients with acute aortic syndrome. The Bentall procedure was the most commonly performed surgical technique, and five patients required re-operation. Of the 17 pregnancies, 29% developed fetal complications; however, there was no maternal morbidity or mortality. A total of ten deaths occurred at a mean age of 52 years. Patients with an ARD ≤ 45 mm had a significantly lower all-cause mortality rate than patients with 45 < ARD ≤ 50 mm or with ARD > 50 mm (P = 0.004 and P < 0.001, respectively). Heart failure symptoms were associated with a worse outcome (P = 0.041), while the presence of extracardiac involvement had a protective effect (P < 0.001).
MFS-related aortopathy is associated with high morbidity rates. In the overall population, an ARD > 45 mm at the time of diagnosis was associated with higher mortality during follow-up.
马凡综合征（MFS）是最常见的结缔组织疾病之一。本研究的目的是对成年MFS患者进行特征描述并评估其长期预后。
对一家三级先天性心脏病门诊在过去40年中随访的成年MFS患者进行回顾性分析。根据不同参数进行生存分析，并使用对数秩检验比较生存曲线。
共随访了62例MFS患者，平均随访时间为12年（男性占47%；平均年龄39岁）。在主动脉窦处的基线平均主动脉根部直径（ARD）为42.4±10.3mm，15%的患者有中重度主动脉瓣反流，7例患者发生急性主动脉综合征。Bentall手术是最常施行的外科技术，5例患者需要再次手术。在17次妊娠中，29%出现胎儿并发症；然而，没有孕产妇发病或死亡情况。共发生10例死亡，平均年龄为52岁。ARD≤45mm的患者全因死亡率显著低于ARD为45＜ARD≤50mm或ARD＞50mm的患者（分别为P = 0.004和P＜0.001）。心力衰竭症状与较差的预后相关（P = 0.041），而心外受累的存在具有保护作用（P＜0.001）。
MFS相关的主动脉病变与高发病率相关。在总体人群中，诊断时ARD＞45mm与随访期间较高的死亡率相关。
