Genotype-Negative Patients With Familial Hypertrophic Cardiomyopathy
Sarc-/FH+ represented 15% of our HCM cohort and exhibited intermediate clinical features between Sarc-/FH- and Sarc+, suggesting an interplay of monogenic/oligogenic disease with environmental factors. This population provides a unique opportunity for gene discovery and an understanding of nongenetic modifiers of HCM, deserving of dedicated investigation.
Authors
- Adelaide Ballerini (ORCID: https://orcid.org/0009-0000-9268-5315)
- Manuel Garofalo (ORCID: https://orcid.org/0009-0007-6011-0710)
- Francesca Bonanni (ORCID: https://orcid.org/0000-0002-7566-4333)
- Samuele Salvi (ORCID: https://orcid.org/0000-0002-8181-1280)
- Annamaria Del Franco (ORCID: https://orcid.org/0000-0003-1405-9436)
- Francesca Girolami (ORCID: https://orcid.org/0000-0001-9143-3597)
- Matteo Casini
- Giorgia Panichella (ORCID: https://orcid.org/0000-0002-9049-5320)
- Maurizio Pieroni (ORCID: https://orcid.org/0000-0002-6830-4292)
- Giulia Biagioni (ORCID: https://orcid.org/0000-0002-9005-7945)
- Iacopo Olivotto
- Alessia Gozzini (ORCID: https://orcid.org/0000-0003-4800-0862)
- Francesco Cappelli (ORCID: https://orcid.org/0000-0002-1622-0732)
- Mattia Targetti (ORCID: https://orcid.org/0000-0001-9213-8565)
- Veronica Setti
- A Barbagallo
- Ivana Crucinio
Institutions
- Meyer Children's Hospital (IT)
- Azienda Ospedaliero-Universitaria Careggi (IT)
- University of Florence (IT)
Publication Details
- Journal
- JACC Advances
- Published
- 2025-04-25
- DOI
- https://doi.org/10.1016/j.jacadv.2025.101730
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00