An Unusual Case of <scp>11αB</scp> ‐Crystallin ( <scp>CRYAB</scp> ) Mutation as a Cause of Dilated Cardiomyopathy With Restrictive Physiology: A Case Report and Focused Review of the Literature
Several diseases have been linked to αB-crystallin (CRYAB) mutation. However, this mutation is an uncommon cause that has been associated in recent years with the development of dilated cardiomyopathy. We report a case of dilated cardiomyopathy with restrictive physiology due to a CRYAB mutation.
Authors
- Eugenio Aladino Meek (ORCID: https://orcid.org/0000-0002-3564-6763)
- Alejandro Mariño (ORCID: https://orcid.org/0000-0002-6329-6692)
- Edgar Giovanny Ríos (ORCID: https://orcid.org/0000-0003-2568-4667)
- Cristian Orlando Porras Bueno (ORCID: https://orcid.org/0000-0001-9618-0744)
- Roberto Hernando Cruz-Buitrago (ORCID: https://orcid.org/0000-0002-3541-804X)
- Cáceres Méndez Edward Andres (ORCID: https://orcid.org/0000-0002-7903-8874)
Institutions
- Pontificia Universidad Javeriana (CO)
- Hospital Universitario San Ignacio (CO)
Publication Details
- Journal
- Clinical Case Reports
- Published
- 2025-03-01
- DOI
- https://doi.org/10.1002/ccr3.70213
- Citations
- 1
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 1.39
Funders
- Pontificia Universidad Javeriana