Herrick Nicole, Davis Christopher, Vargas Lisa, Dietz Hal, Grossfeld Paul
1UCSD School of Medicine, La Jolla, CA; 2Division of Cardiology, Department of Pediatrics, UCSD School of Medicine/Rady Children's Hospital of San Diego, San Diego, CA; and 3Howard Hughes Medical Institute, Institute of Genetic Medicine and Smilow Center for Marfan Syndrome Research, Johns Hopkins University School of Medicine, Baltimore, MD.
Med Sci Sports Exerc. 2017 Jul;49(7):1293-1296. doi: 10.1249/MSS.0000000000001236.
Basketball and volleyball attract individuals with a characteristic biophysical profile, mimicking features of Marfan syndrome. Consequently, identification of these abnormalities can be lifesaving.
To determine how physical examination, echocardiography, and genetic screening can identify elite volleyball players with a previously undiagnosed aortopathy.
We have performed cardiac screening on 90 US Volleyball National Team members and identified four individuals with dilated sinuses of Valsalva. This case series reports on three individuals who underwent a comprehensive genetics evaluation, including gene sequencing.
Cardiac screening combined with genetic testing can identify previously undiagnosed tall athletes with an aortopathy, in the absence of noncardiac findings of a connective tissue disorder. Subject 1 had a revised Ghent systems (RGS) score of 2 and a normal aortopathy gene panel. Subject 2 had a RGS score of 1 and genetic testing revealed a de novo disease causing mutation in the gene encoding fibrillin-1 (FBN1). Subject 3 had an RGS score of 4.0 and had a normal aortopathy gene panel.
Despite variable clinical features of Marfan syndrome, dilated sinuses of Valsalva were found in 4.9% of the athletes. A disease-causing mutation in the FBN1 gene was identified in subject 2, who had the lowest RGS but the largest aortic root measurement. Subjects 1 and 3, with the highest RGS, had a normal aortopathy gene panel. Our findings provide further evidence suggesting that a cardiac evaluation, including a screening echocardiogram, should be performed on all elite tall adult athletes independent of other physical findings. Genetic testing should be considered for athletes with dilated sinuses of Valsalva (male, >4.2 cm; female, >3.4 cm), regardless of other extracardiac findings.
篮球和排球吸引了具有特定生物物理特征的个体，这些特征类似于马凡综合征的特征。因此，识别这些异常情况可能会挽救生命。
确定体格检查、超声心动图和基因筛查如何识别先前未被诊断出患有主动脉病变的精英排球运动员。
我们对90名美国国家排球队队员进行了心脏筛查，发现了4名患有主动脉窦扩张的个体。本病例系列报告了3名接受全面基因评估（包括基因测序）的个体。
心脏筛查结合基因检测可以识别出先前未被诊断出患有主动脉病变的高个子运动员，且不存在结缔组织疾病的非心脏表现。受试者1的修订根特系统（RGS）评分为2，主动脉病变基因检测结果正常。受试者2的RGS评分为1，基因检测显示在编码原纤蛋白-1（FBN1）的基因中存在一个导致疾病的新发突变。受试者3的RGS评分为4.0，主动脉病变基因检测结果正常。
尽管马凡综合征的临床特征各不相同，但在4.9%的运动员中发现了主动脉窦扩张。在受试者2中发现了FBN1基因的致病突变，其RGS评分最低，但主动脉根部测量值最大。受试者1和3的RGS评分最高，主动脉病变基因检测结果正常。我们的研究结果提供了进一步的证据，表明应对所有成年高个子精英运动员进行心脏评估，包括筛查超声心动图，而不考虑其他身体检查结果。对于主动脉窦扩张的运动员（男性，>4.2 cm；女性，>3.4 cm），无论是否有其他心脏外表现，都应考虑进行基因检测。
