Hypertrophic cardiomyopathy (HCM) has historically been diagnosed phenotypically. Through genetic testing, identification of a molecular diagnosis (MolDx) is increasingly common but the impact on pediatric patients is unknown. This was a retrospective study of next-generation sequencing data for 602 pediatric patients with a clinician-reported history of HCM. Diagnostic yield was stratified by gene and self-reported race/ethnicity. A MolDx of HCM was identified in 242 (40%) individuals. Sarcomeric genes were the highest yielding, but pathogenic and/or likely pathogenic (P/LP) variants in syndromic genes were found in 36% of individuals with a MolDx, often in patients without documented clinical suspicion for a genetic syndrome. Among all MolDx, 73% were in genes with established clinical management recommendations and 2.9% were in genes that conferred eligibility for clinical trial enrollment. Black patients were the least likely to receive a MolDx. In the current era, genetic testing can impact management of HCM, beyond diagnostics or prognostics, through disease-specific guidelines or clinical trial eligibility. Genetic testing frequently can help identify syndromes in patients for whom syndromes may not be suspected. These findings highlight the importance of pursuing broad genetic testing, independent of suspicion based on phenotype. Lower rates of MolDx in Black patients may contribute to health inequities. Further research is needed evaluating the genetics of HCM in underrepresented/underserved populations. Additionally, research related to the impact of genetic testing on clinical management of other diseases is warranted.

中文翻译：

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小儿肥厚性心肌病的综合基因检测揭示了临床管理机会和综合征状况。

肥厚型心肌病 (HCM) 历来被诊断为表型。通过基因检测，分子诊断（MolDx）的鉴定越来越普遍，但对儿科患者的影响尚不清楚。这是一项针对 602 名临床医生报告有 HCM 病史的儿科患者的下一代测序数据的回顾性研究。诊断产量按基因和自我报告的种族/民族进行分层。在 242 (40%) 人中发现了 HCM 的 MolDx。肌节基因的产量最高，但在 36% 的 MolDx 患者中发现了综合征基因中的致病性和/或可能致病性 (P/LP) 变异，通常发生在没有临床怀疑遗传综合征的患者中。在所有 MolDx 中，73% 的基因具有既定的临床管理建议，2 个。9% 的基因有资格参加临床试验。黑人患者最不可能接受 MolDx。在当前时代，基因检测可以通过针对疾病的指南或临床试验资格来影响 HCM 的管理，超越诊断或预后。经常进行基因检测可以帮助识别可能不会怀疑有综合征的患者的综合征。这些发现强调了独立于基于表型的怀疑进行广泛基因检测的重要性。黑人患者中较低的 MolDx 发生率可能会导致健康不平等。需要进一步研究评估 HCM 在代表性不足/服务不足的人群中的遗传学。此外，有必要进行与基因检测对其他疾病临床管理的影响相关的研究。