Clinic for Paediatric Cardiology, University Heart Centre, University of Hamburg-Eppendorf, Hamburg, Germany.
Acta Paediatr. 2013 Feb;102(2):e84-9. doi: 10.1111/apa.12072. Epub 2012 Dec 7.
Due to age-dependent manifestations, diagnosis of Marfan syndrome (MFS) in children and adolescents is sophisticated. Although revised Ghent criteria is a major step forward, its utility in children is still restricted due to expensive and technically advanced diagnostics. As early diagnosis submits long-term benefits concerning prognosis, the need of an appropriate diagnostic tool for risk stratification of suspected paediatric patients with Marfan is justified.
Sixty paediatric patients with Marfan were subject to a standardized diagnostic programme. All clinical symptoms of the revised Ghent nosology were analysed concerning age at first clinical manifestation, prevalence and likelihood ratio for MFS. Symptoms with early onset, high prevalence and high positive likelihood ratio were identified and combined for a risk score called Kid-Short Marfan Score (Kid-SMS). Three risk categories for suspicion of Marfan syndrome were developed. Finally, the Kid-SMS was operated in 130 paediatric patients with suspected MFS. Kid-SMS identified significantly more suspected patients with Marfan compared with Ghent nosology, revised Ghent and genetics alone without oversensitivity.
Whereas diagnosis of MFS in childhood is sophisticated, Kid-SMS is a useful tool for risk stratification of suspected paediatric patients with Marfan by easy executable diagnostics, especially for paediatricians and paediatric cardiologists.
由于年龄相关的表现，儿童和青少年马凡综合征（MFS）的诊断较为复杂。虽然修订后的根特标准是向前迈出的一大步，但由于昂贵且技术先进的诊断，其在儿童中的应用仍然受到限制。由于早期诊断对预后有长期益处，因此有理由为疑似儿科马凡患者的风险分层寻找一种合适的诊断工具。
对 60 名马凡患儿进行了标准化诊断方案。对修订后的根特分类学的所有临床症状进行了分析，包括首次临床表现的年龄、患病率和 MFS 的似然比。确定了早期发病、高患病率和高阳性似然比的症状，并将其组合成一个名为儿童短马凡评分（Kid-SMS）的风险评分。为怀疑马凡综合征制定了三个风险类别。最后，在 130 名疑似 MFS 的儿科患者中进行了 Kid-SMS 操作。Kid-SMS 比根特分类学、修订后的根特标准和遗传学单独使用更能识别出更多的疑似马凡综合征患者，而不会过度敏感。
虽然儿童 MFS 的诊断较为复杂，但 Kid-SMS 是一种通过易于执行的诊断方法对疑似儿科马凡患者进行风险分层的有用工具，特别是对儿科医生和儿科心脏病学家而言。
