Family screening for hypertrophic cardiomyopathy: Initial cardiologic assessment, and long-term follow-up of genotype-positive phenotype-negative individuals
The initial evaluation was high-yield, with HCM being diagnosed in 47 % of G+ individuals, more frequently in older males. Over a median 8-year follow-up, 6 % of G+/P- individuals developed mild HCM, with no adverse cardiac outcomes. These data support initial screening in all first degree relatives, but (very) low-frequency cardiologic evaluations for G+/P- individuals thereafter.
Authors
- Stephan A C Schoonvelde (ORCID: https://orcid.org/0000-0001-6235-016X)
- Judith M.A. Verhagen (ORCID: https://orcid.org/0000-0002-0340-3433)
- G Alexandridis (ORCID: https://orcid.org/0009-0001-8735-9870)
- Michelle Michels (ORCID: https://orcid.org/0000-0001-6432-0431)
- Arend F. L. Schinkel (ORCID: https://orcid.org/0000-0002-6424-0754)
- Rudolf A. de Boer (ORCID: https://orcid.org/0000-0002-4775-9140)
- L Price (ORCID: https://orcid.org/0009-0002-2549-9648)
- Peter-Paul Zwetsloot (ORCID: https://orcid.org/0000-0002-2634-4667)
- Marjon A. van Slegtenhorst
- Janneke A.E. Kammeraad (ORCID: https://orcid.org/0000-0002-1556-9422)
- Alexander Hirsch (ORCID: https://orcid.org/0000-0002-3315-2006)
Institutions
- Erasmus MC (NL)
- Netherlands Heart Institute (NL)
- Erasmus MC - Sophia Children’s Hospital (NL)
- Erasmus MC Cancer Institute (NL)
- Erasmus University Rotterdam (NL)
Publication Details
- Journal
- International Journal of Cardiology
- Published
- 2024-12-31
- DOI
- https://doi.org/10.1016/j.ijcard.2024.132951
- Citations
- 6
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 2.41