Disease Penetrance in Genotype-Positive But Clinically Unaffected Relatives From Families With Dilated Cardiomyopathy
Rates of disease penetrance are high in genotype-positive relatives and particularly high in men and LMNA variant carriers. Baseline LVEF is strongly associated with disease penetrance. These findings emphasize the importance of regular evaluation of this cohort and underline the potential for tailored screening intervals.
Authors
- Perry Elliott (ORCID: https://orcid.org/0000-0003-3383-3984)
- Neha Sekhri
- Petros Syrris (ORCID: https://orcid.org/0000-0002-2363-8758)
- Luís R. Lopes (ORCID: https://orcid.org/0000-0002-6408-4667)
- Douglas Ewan Cannie (ORCID: https://orcid.org/0000-0001-6298-922X)
- Alexandros Protonotarios (ORCID: https://orcid.org/0000-0001-8595-7212)
- Saidi Mohiddin (ORCID: https://orcid.org/0000-0002-1031-4084)
- Constantinos O’Mahony (ORCID: https://orcid.org/0000-0001-6931-4647)
- Athanasios Bakalakos (ORCID: https://orcid.org/0009-0006-6356-2205)
- Oliver Guttmann
- Massimiliano Lorenzini (ORCID: https://orcid.org/0000-0002-1831-7853)
- Konstantinos Savvatis
Institutions
- St Bartholomew's Hospital (GB)
- Queen Mary University of London (GB)
- William Harvey Research Institute (GB)
- University College London (GB)
Publication Details
- Journal
- JACC Heart Failure
- Published
- 2025-08-22
- DOI
- https://doi.org/10.1016/j.jchf.2025.102588
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- British Heart Foundation