Department of Paediatric Cardiology and Paediatric Endocrinology, Centre de Référence pour le Syndrome de Marfan et Apparentés, Hôpital des Enfants, CHU Toulouse, 31300 Toulouse, France; Department of Congenital Heart Diseases, Centre Constitutif Réseau M3C (Maladies Rares Cardiopathies Congénitales Complexes), Hôpital Marie Lannelongue, Paris-Sud Université, 92350 Plessis-Robinson, France.
Department of Paediatric Cardiology and Paediatric Endocrinology, Centre de Référence pour le Syndrome de Marfan et Apparentés, Hôpital des Enfants, CHU Toulouse, 31300 Toulouse, France.
Arch Cardiovasc Dis. 2020 Jan;113(1):40-49. doi: 10.1016/j.acvd.2019.09.010. Epub 2019 Nov 14.
Little is known about the incidence of cardiovascular events (CVEs) and their associated risk markers in children with Marfan syndrome (MFS).
To assess the incidence of CVEs and determine risk markers in a cohort diagnosed with Marfan syndrome during childhood and followed for several years.
From a French multicentre nationwide database, 462 patients with MFS diagnosed during childhood were included prospectively. Patients' files were screened for a period of 20 years (1993-2013). CVEs (e.g. death, aortic dissection, cardiac valve or aortic root surgery) were assessed during the prospective follow-up.
Median (interquartile range) age at the end of follow-up was 17.2 (11.1-21.3) years. CVEs were reported for 35 participants (7.6%; 95% confidence interval [CI] 5.3-10.4%). First CVEs were prophylactic aortic root surgery (n=29), aortic dissection (n=4; two aged <18 years) and death (n=2). Kaplan-Meier cumulative incidence of CVEs was 5.3% (95% CI 3.3-8.7%) during childhood (aged≤18 years) and 19.4% (95% CI 13.3-27.9%) at 25years of age. The cumulative rate of CVEs was higher in case of Valsalva sinus Z-score increase of≥0.1 per year (P=0.0003), maximal Valsalva sinus diameter growth speed ≥5mm per year (P=0.03), aortic regurgitation≥2 (P=0.0005) and maximal Valsalva sinus Z-score≥3 before 16 years of age (P<0.0001). In a multivariable Cox proportional analysis, the Valsalva sinus Z-score remained significantly related to outcome. Considering aortic root evolution, aortic regurgitation, age at diagnosis and beta-blocker therapy were related to Valsalva sinus Z-score evolution during follow-up.
CVEs in children with MFS are mainly related to prophylactic aortic root surgery. Aortic dissections are rarely observed in children. The Valsalva sinus Z-score is a strong indicator of subsequent CVEs in children with MFS. Attention to follow-up and beta-blocker observance may be warranted in high-risk children.
关于马凡综合征（MFS）患儿心血管事件（CVE）的发生率及其相关风险标志物知之甚少。
评估在儿童期诊断为马凡综合征并随访多年的患者中 CVE 的发生率，并确定风险标志物。
从法国全国多中心数据库中前瞻性纳入 462 例儿童期诊断的 MFS 患者。对患者的病历进行了 20 年（1993-2013 年）的筛查。在前瞻性随访期间评估 CVE（如死亡、主动脉夹层、心脏瓣膜或主动脉根部手术）。
随访结束时的中位（四分位距）年龄为 17.2（11.1-21.3）岁。35 名患者（7.6%；95%置信区间 [CI] 5.3-10.4%）报告发生 CVE。首次 CVE 为预防性主动脉根部手术（n=29）、主动脉夹层（n=4；2 例年龄<18 岁）和死亡（n=2）。儿童期（≤18 岁）Kaplan-Meier 累积 CVE 发生率为 5.3%（95% CI 3.3-8.7%），25 岁时为 19.4%（95% CI 13.3-27.9%）。每年主动脉窦 Z 评分增加≥0.1（P=0.0003）、每年最大主动脉窦直径增长速度≥5mm（P=0.03）、主动脉瓣反流≥2（P=0.0005）和 16 岁前最大主动脉窦 Z 评分≥3 时，CVE 的累积发生率更高（P<0.0001）。多变量 Cox 比例分析显示，主动脉窦 Z 评分与结局显著相关。考虑到主动脉根部的演变，主动脉瓣反流、诊断时的年龄和β受体阻滞剂治疗与随访期间主动脉窦 Z 评分的演变相关。
MFS 患儿的 CVE 主要与预防性主动脉根部手术相关。儿童期很少发生主动脉夹层。主动脉窦 Z 评分是儿童 MFS 患者发生后续 CVE 的强有力指标。高危患儿应注意随访和β受体阻滞剂的使用。
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