Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants
IEVs are present in 6.1% of HCM cases and account for 4.8% of HCM genetic burden. IEVs also influence disease severity and outcomes, particularly when combined with monogenic disease-causing variants. Evaluation of IEVs should be considered when HCM genetic testing is performed.
Authors
- Alex Lipov (ORCID: https://orcid.org/0000-0001-8061-2063)
- Roberto Barriales‐Villa (ORCID: https://orcid.org/0000-0002-6721-3487)
- Perry Elliott (ORCID: https://orcid.org/0000-0003-3383-3984)
- Nerea Mora Ayestarán (ORCID: https://orcid.org/0000-0002-2127-5287)
- Xusto Fernández (ORCID: https://orcid.org/0000-0003-1861-6973)
- Juan Ramón Gimeno (ORCID: https://orcid.org/0000-0001-5818-1754)
- Jesús Piqueras‐Flores (ORCID: https://orcid.org/0000-0002-2215-740X)
- María Valverde-Gómez (ORCID: https://orcid.org/0000-0002-4371-3620)
- Eduardo Moreno Escobar
- Connie R. Bezzina (ORCID: https://orcid.org/0000-0002-0633-3514)
- Elena Villanueva
- Petros Syrris (ORCID: https://orcid.org/0000-0002-2363-8758)
- Noël Brögger
- Eduardo Villacorta (ORCID: https://orcid.org/0000-0003-0486-1740)
- José M. Larrañaga‐Moreira (ORCID: https://orcid.org/0000-0003-4642-4098)
- Roddy Walsh (ORCID: https://orcid.org/0000-0001-5092-8825)
- Pablo García‐Pavía (ORCID: https://orcid.org/0000-0002-5470-2257)
- Martín Ortiz-Genga (ORCID: https://orcid.org/0000-0001-7453-7896)
- Juan Pablo Ochoa
- María Sabater‐Molina (ORCID: https://orcid.org/0000-0003-1352-1748)
- A Bautista-Paves
- I Cardenas Reyes
- María Teresa Basurte-Elorz
- Adrián Fernández (ORCID: https://orcid.org/0000-0001-6248-1581)
- Alberto Salamanca
- Soledad García-Hernández (ORCID: https://orcid.org/0000-0003-2547-685X)
- Luis Ruiz-Guerrero
- Luis de la Higuera Romero
- María Luisa Peña‐Peña
Institutions
- Universidade da Coruña (ES)
- National University of Tucumán (AR)
- Heart Rhythm Society (US)
- St George's, University of London (GB)
- TiGenix (Spain) (ES)
- British Heart Foundation (GB)
- Art Research Centre of the Slovak Academy of Sciences (SK)
- Centro de Investigación en Red en Enfermedades Cardiovasculares (ES)
- Complejo Hospitalario de Salamanca (ES)
- Marqués de Valdecilla University Hospital (ES)
- Hospital Universitario 12 De Octubre (ES)
- Hospital Universitario Puerta de Hierro Majadahonda (ES)
- Amsterdam Neuroscience (NL)
- Instituto de Investigación Biosanitaria de Granada (ES)
- Spanish National Centre for Cardiovascular Research (ES)
- Clinica Universidad de Navarra (ES)
- Complexo Hospitalario Universitario A Coruña (ES)
- Servicio de Salud de Castilla La Mancha (ES)
- Genomics England (GB)
- Hospital Universitario Virgen de la Arrixaca (ES)
- Amsterdam University Medical Centers (NL)
- Hospital Universitario Virgen del Rocío (ES)
- Favaloro Foundation (AR)
- Instituto de Investigación Biomédica de A Coruña (ES)
- University College London (GB)
- Amsterdam University of Applied Sciences (NL)
- University of Castilla-La Mancha (ES)
- Universidad de Navarra (ES)
- University of Amsterdam (NL)
Publication Details
- Journal
- Circulation
- Published
- 2025-08-29
- DOI
- https://doi.org/10.1161/circulationaha.125.074529
- Citations
- 9
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 12.49
Funders
- Bristol-Myers Squibb
- Sanofi
- Alnylam Pharmaceuticals
- Cytokinetics
- European Commission
- HORIZON EUROPE European Innovation Council