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The dilemma of genotype positive-phenotype negative hypertrophic cardiomyopathy

机译：基因型正表型肥厚型心肌病的两难选择

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Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease and the leading cause of sudden death in athletes. An autosomal dominant disorder affecting approximately 1 in 500 individuals, HCM has been linked to multiple mutations and exhibits variable phenotypic expression. The utility of cardiovascular screening in diagnosing risk factors for sudden cardiac death continues to be debated intensely. Genetic testing has been employed increasingly in diagnosing HCM, resulting in a subset of patients with genotype positive-phenotype negative disease; these patients carry the mutation for HCM but lack pathologic evidence of disease. These individuals pose a dilemma in the clinical management of HCM: should treatment guidelines for phenotypically normal HCM patients be the same as that of symptomatic patients? Governing bodies continue to disagree, providing conflicting guidelines for sports participation. This review examines the current fund of knowledge regarding HCM and the debate regarding screening.
机译：肥厚型心肌病（HCM）是最常见的遗传性心血管疾病，也是运动员猝死的主要原因。 HCM是一种常染色体显性遗传疾病，约影响500个个体中的1个，已与多种突变相关并表现出可变的表型表达。心血管筛查在诊断心源性猝死危险因素中的实用性仍在激烈争论。基因检测已被越来越多地用于诊断HCM，导致一部分亚型的患者出现基因型阳性-表型阴性疾病。这些患者携带HCM突变，但缺乏疾病的病理学证据。这些人在HCM的临床管理中造成了两难选择：表型正常的HCM患者的治疗指南是否应与有症状的患者的治疗指南相同？理事机构继续持不同意见，为体育参与提供了相互矛盾的指导方针。这项审查审查有关HCM的当前知识基金和有关筛选的辩论。

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