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.show moreshow less

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Metadaten
Author: Andreas Brodehl, Brenda Gerull
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):License LogoCC BY: Creative-Commons-Lizenz: Namensnennung 4.0 International