Genetic Insights into Primary Restrictive Cardiomyopathy.
cardiomyopathy
cardiovascular genetics
desmin
filamin-C
restrictive cardiomyopathy
troponin
Journal
Journal of clinical medicine
ISSN: 2077-0383
Titre abrégé: J Clin Med
Pays: Switzerland
ID NLM: 101606588
Informations de publication
Date de publication:
08 Apr 2022
08 Apr 2022
Historique:
received:
14
03
2022
revised:
05
04
2022
accepted:
06
04
2022
entrez:
23
4
2022
pubmed:
24
4
2022
medline:
24
4
2022
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 35456187
pii: jcm11082094
doi: 10.3390/jcm11082094
pmc: PMC9027761
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
Subventions
Organisme : DFG Open Access Publication Funds of the Ruhr-University Bochum
ID : #5678
Organisme : German Research Foundation
ID : 453989101
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