Article
Family screening for hypertrophic cardiomyopathy: Initial cardiologic assessment, and long-term follow-up of genotype-positive phenotype-negative individuals.
International journal of cardiology - 1 Mar 2025
Schoonvelde Stephan A C, Alexandridis Georgios M, Price Laura B, Schinkel Arend F L, Hirsch Alexander, Zwetsloot Peter-Paul, Kammeraad Janneke A E, van Slegtenhorst Marjon A, Verhagen Judith M A, de Boer Rudolf A, Michels Michelle
Abstract excerpt
AIMS: (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. RESULTS: From 2000 to 2023, 273 individuals underwent cardiologic evaluation following P/LP variant...
Topics
- Humans
- Male
- Female
- Middle Aged
- Adult
- Follow-Up Studies
- Cardiomyopathy, Hypertrophic
- Phenotype
- Genetic Testing
- Aged