Article

Family screening for hypertrophic cardiomyopathy: initial cardiologic assessment, and long-term follow-up of genotype-positive phenotype-negative individuals

2024-11-04

Abstract excerpt

<h4>Aims</h4> (i) Investigate the prevalence of hypertrophic cardiomyopathy (HCM) in individuals with pathogenic/likely pathogenic (P/LP) gene variants detected through family cascade testing in relatives, and (ii) evaluate phenotypic progression in genotype-positive phenotype-negative (G+/P-) individuals during follow-up. <h4>Results</h4> From 2000-2023, 273 individuals underwent cardiologic evaluation following...

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Literature Corpus work: f4330913-f3a8-50c6-a715-54ed5eb8dc6f
DOI: 10.1101/2024.11.01.24316619

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