Genetic insights into primary restrictive cardiomyopathy
- Restrictive cardiomyopathy is a rare cardiac disease causing severe diastolic dysfunction, ventricular stiffness and dilated atria. In consequence, it induces heart failure often with preserved ejection fraction and is associated with a high mortality. Since it is a poor clinical prognosis, patients with restrictive cardiomyopathy frequently require heart transplantation. Genetic as well as non-genetic factors contribute to restrictive cardiomyopathy and a significant portion of cases are of unknown etiology. However, the genetic forms of restrictive cardiomyopathy and the involved molecular pathomechanisms are only partially understood. In this review, we summarize the current knowledge about primary genetic restrictive cardiomyopathy and describe its genetic landscape, which might be of interest for geneticists as well as for cardiologists.
| Author: | Andreas BrodehlORCiDGND, Brenda GerullORCiDGND |
|---|---|
| URN: | urn:nbn:de:hbz:294-101806 |
| DOI: | https://doi.org/10.3390/jcm11082094 |
| Parent Title (English): | Journal of molecular medicine |
| Publisher: | Springer |
| Place of publication: | Berlin |
| Document Type: | Article |
| Language: | English |
| Date of Publication (online): | 2023/08/17 |
| Date of first Publication: | 2022/04/08 |
| Publishing Institution: | Ruhr-Universität Bochum, Universitätsbibliothek |
| Tag: | Open Access Fonds cardiomyopathy; cardiovascular genetics; desmin; filamin-C; restrictive cardiomyopathy; troponin |
| Volume: | 11 |
| Issue: | 8, Article 2904 |
| First Page: | 2904-1 |
| Last Page: | 2904-25 |
| Note: | Article Processing Charge funded by the Deutsche Forschungsgemeinschaft (DFG) and the Open Access Publication Fund of Ruhr-Universität Bochum. |
| Institutes/Facilities: | Herz- und Diabeteszentrum NRW |
| Erich und Hanna Klessmann-Institut für kardiovaskuläre Forschung und Entwicklung | |
| open_access (DINI-Set): | open_access |
| Licence (English): |  Creative Commons - CC BY 4.0 - Attribution 4.0 International |
