Department of Pediatric Cardiology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.
Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Cardiol Young. 2021 Dec;31(12):1962-1968. doi: 10.1017/S1047951121001311. Epub 2021 Apr 12.
Aortic root dilation is a major complication of Marfan syndrome and is one of the most important criteria in establishing the diagnosis. Currently, different echocardiographic nomograms are used to calculate aortic root Z-scores. The aim of the present study was to assess the potential differences in aortic root measurements when aortic root Z-scores were obtained in a cohort of paediatric Marfan patients using several published nomograms.
In a cohort of 100 children with Marfan syndrome, Z-scores for aortic root dimensions were calculated according to the nomograms of Pettersen et al, Gautier et al, Colan et al, and Lopez et al. Bland-Altman plots were used to estimate mean differences in Z-scores and to establish limits of agreement.
The mean Z-score of the sinus of Valsalva for Lopez et al was significantly higher compared to Gautier et al (p < 0.01) and Pettersen et al (p = 0.03). The nomogram of Lopez et al resulted in substantially higher Z-scores in patients with a large sinus of Valsalva diameter. Thirty-five percentage of the studied patients would have a Z-score ≥ 2 using Lopez et al compared to 20% for Pettersen et al, 21% for Gautier et al, and 33% for Colan et al.
The currently available nomograms for calculating Z-scores of aortic dilation in children with Marfan syndrome lead to clinically relevant differences in Z-scores, especially in children with a relative large aortic root diameter. This could have impact on both the diagnosis and treatment of patients with Marfan syndrome.
马凡综合征的主要并发症是主动脉根部扩张，是确立诊断的最重要标准之一。目前，不同的超声心动图列线图用于计算主动脉根部 Z 评分。本研究旨在评估在儿科马凡综合征患者队列中使用几种已发表的列线图计算主动脉根部 Z 评分时，主动脉根部测量值的潜在差异。
在 100 名马凡综合征患儿的队列中，根据 Pettersen 等人、Gautier 等人、Colan 等人和 Lopez 等人的列线图计算主动脉根部尺寸的 Z 评分。使用 Bland-Altman 图估计 Z 评分的平均差异并建立一致性界限。
与 Gautier 等人（p < 0.01）和 Pettersen 等人（p = 0.03）相比，Lopez 等人的主动脉窦 Z 评分明显更高。Lopez 等人的列线图导致主动脉窦直径较大的患者的 Z 评分显著升高。与使用 Pettersen 等人的列线图相比，使用 Lopez 等人的列线图，有 35%的研究患者的 Z 评分≥2，而 Pettersen 等人的列线图为 20%，Gautier 等人的列线图为 21%，Colan 等人的列线图为 33%。
目前用于计算马凡综合征儿童主动脉扩张 Z 评分的列线图导致 Z 评分存在临床相关差异，尤其是在主动脉根部直径相对较大的儿童中。这可能对马凡综合征患者的诊断和治疗都有影响。
