Diagnostic validity and clinical utility of genetic testing for hypertrophic cardiomyopathy: a systematic review and meta-analysis.
Susan ChristianAllison CirinoBrittany HansenStephanie HarrisAndrea M MuradJaime L NatoliJennifer MalinowskiMelissa A KellyPublished in: Open heart (2022)
This systematic review and meta-analysis is the first, to our knowledge, to collectively quantify historical understandings of detection rate, genotype-phenotype associations and disease penetrance for HCM, while providing the answers to important routine clinical questions and highlighting key areas for future study.