Genetic insights into primary restrictive cardiomyopathy
Please always quote using this URN: urn:nbn:de:bvb:20-opus-270621
- 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 ofRestrictive 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 Brodehl, Brenda Gerull |
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URN: | urn:nbn:de:bvb:20-opus-270621 |
Document Type: | Journal article |
Faculties: | Medizinische Fakultät / Medizinische Klinik und Poliklinik I |
Medizinische Fakultät / Deutsches Zentrum für Herzinsuffizienz (DZHI) | |
Language: | English |
Parent Title (English): | Journal of Clinical Medicine |
ISSN: | 2077-0383 |
Year of Completion: | 2022 |
Volume: | 11 |
Issue: | 8 |
Article Number: | 2094 |
Source: | Journal of Clinical Medicine (2022) 11:8, 2094. https://doi.org/10.3390/jcm11082094 |
DOI: | https://doi.org/10.3390/jcm11082094 |
Dewey Decimal Classification: | 6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit |
Tag: | cardiomyopathy; cardiovascular genetics; desmin; filamin-C; restrictive cardiomyopathy; troponin |
Release Date: | 2023/02/07 |
Date of first Publication: | 2022/04/08 |
Licence (German): | CC BY: Creative-Commons-Lizenz: Namensnennung 4.0 International |