心肌病基因检测阴性如何解读？遗传学局限与临床管理策略

A negative DNA test result does not exclude the genetic origin of cardiomyopathy. A considerable number of genotype-negative results, even in probands with a familial burden of cardiomyopathy, raise the question of missing inheritance. Every genetic testing method and variant interpretation approach has its own limitations. However, most likely, a substantial portion of genetically unresolved cases reflects our limited knowledge of the molecular pathways contributing to the condition at a given time point.