Aziz Amir, Musiol Szymon K, Moody William E, Pickup Luke, Cooper Rob, Lip Gregory Y H
Mazankowski Alberta Heart Institute, University of Alberta, Edmonton, AB, Canada.
North Bristol NHS Trust, Bristol, UK.
Eur J Clin Invest. 2021 Aug;51(8):e13593. doi: 10.1111/eci.13593. Epub 2021 May 25.
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac condition and the most common cause of sudden cardiac death (SCD) in patients below the age of 35. Genetic testing is a vital part of HCM diagnostics, yet correlation with clinical phenotypes remains complex. Identifying clinical predictors of informative genetic testing may prevent unnecessary investigations and improve cost-effectiveness of services. This article reviews the current literature pertinent to identifying such predictors.
Five literature databases were screened using a suitably designed search strategy. Studies investigating the correlation between having a positive genetic test for HCM and a range of clinical and radiological parameters were included in the systematic review.
Twenty-nine observational studies of a total of 9,486 patients were included. The main predictors of informative genetic testing were younger age, higher septal thickness, reverse septal curvature, family history of HCM and SCD and the absence of hypertension. Two externally validated scoring systems have also been developed: the Mayo and Toronto scores. Novel imaging markers and complex algorithmic models are emerging predictors.
Using clinical predictors to decide whom to test is a feasible alternative to investigating all comers. Nonetheless, currently there is not enough evidence to unequivocally recommend for or against this strategy. Further validation of current predictors and identification of new ones remain open research avenues.
肥厚型心肌病（HCM）是最常见的遗传性心脏疾病，也是35岁以下患者心源性猝死（SCD）的最常见原因。基因检测是HCM诊断的重要组成部分，但与临床表型的相关性仍然很复杂。识别信息丰富的基因检测的临床预测因素可以避免不必要的检查，并提高服务的成本效益。本文综述了与识别此类预测因素相关的当前文献。
使用适当设计的检索策略对五个文献数据库进行筛选。系统评价纳入了研究HCM基因检测阳性与一系列临床和放射学参数之间相关性的研究。
共纳入了29项观察性研究，涉及9486例患者。信息丰富的基因检测的主要预测因素是年龄较小、室间隔厚度增加、室间隔反向弯曲、HCM和SCD家族史以及无高血压。还开发了两种外部验证的评分系统：梅奥评分和多伦多评分。新型成像标志物和复杂的算法模型是新出现的预测因素。
使用临床预测因素来决定检测对象是一种可行的替代方案，可避免对所有前来就诊者进行检查。尽管如此，目前尚无足够证据明确推荐支持或反对这一策略。对当前预测因素的进一步验证以及新预测因素的识别仍是开放的研究途径。
