Genetics of dilated cardiomyopathy
Year: 2021
Type: review
Abstract: PURPOSE OF REVIEW: 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. RECENT FINDINGS: 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. SUMMARY: : 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.
Source: Current Opinion in Cardiology
Institution: University of Colorado Anschutz
Language: English
Subfield: Cardiology and Cardiovascular Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: green
Awards: Cellular biomechanics in arrhythmogenic cardiomyopathy due to PKP2, LMNA and FLNC gene mutations, Whole genome DNA sequencing to identify novel genes in dilated cardiomyopathy, Genetics, Mechanisms and Clinical Phenotypes of Arrhythmogenic Cardiomyopathy, Cardiomyocyte phenotype and mechanotransduction in Filamin C gene variants causing arrhythmogenic cardiomyopathy, Familial Dilated Cardiomyopathy:Genetic Characterization, Molecular Epidemiology of Dilated Cardiomyopath
OpenAlex ID: W3136359036