Genetics of dilated cardiomyopathy.
Journal
Current opinion in cardiology
ISSN: 1531-7080
Titre abrégé: Curr Opin Cardiol
Pays: United States
ID NLM: 8608087
Informations de publication
Date de publication:
01 05 2021
01 05 2021
Historique:
pubmed:
27
3
2021
medline:
24
4
2021
entrez:
26
3
2021
Statut:
ppublish
Résumé
Dilated cardiomyopathy (DCM), which include genetic and nongenetic forms, is the most common form of cardiomyopathy. DCM is characterized by left ventricular or biventricular dilation with impaired contraction. In the United States, DCM is a burden to healthcare that accounts for approximately 10,000 deaths and 46,000 hospitalizations annually. In this review, we will focus on the genetic forms of DCM and on recent advances in the understanding of cytoskeletal, sarcomeric, desmosomal, nuclear membrane, and RNA binding genes that contribute to the complexity and genetic heterogeneity of DCM. Although mutations in TTN remain the most common identifiable cause of genetic DCM, there is a growing appreciation for arrhythmogenic-prone DCM due to mutations in LMNA, desmosomal genes, and the recently described FLNC gene encoding the structural filamin C protein. Mutations in RBM20 highlight the relevance of RNA splicing regulation in the pathogenesis of DCM. Although expanded genetic testing has improved access to genetic diagnostic studies for many patients, the molecular mechanisms in the pathogenesis of the disease remained largely unknown. : The identification of the molecular causes and subsequent insight into the molecular mechanisms of DCM is expanding our understanding of DCM pathogenesis and highlights the complexity of DCM and the need to develop multifaceted strategies to treat the various causes of DCM.
Identifiants
pubmed: 33769382
doi: 10.1097/HCO.0000000000000845
pii: 00001573-202105000-00007
pmc: PMC8272929
mid: NIHMS1713214
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
288-294Subventions
Organisme : NHLBI NIH HHS
ID : R01 HL147064
Pays : United States
Organisme : American Heart Association-American Stroke Association
ID : 17GRNT33670495
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL109209
Pays : United States
Organisme : NHLBI NIH HHS
ID : K23 HL067915
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL069071
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL116906
Pays : United States
Informations de copyright
Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.
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