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Genetic basis of arrhythmogenic cardiomyopathy

Karmouch, J; Protonotarios, A; Syrris, P; (2018) Genetic basis of arrhythmogenic cardiomyopathy. Current Opinion in Cardiology , 33 (3) pp. 276-281. 10.1097/HCO.0000000000000509. Green open access

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Abstract

PURPOSE OF REVIEW: To date 16 genes have been associated with arrhythmogenic cardiomyopathy (ACM). Mutations in these genes can lead to a broad spectrum of phenotypic expression ranging from disease affecting predominantly the right or left ventricle, to biventricular subtypes. Understanding the genetic causes of ACM is important in diagnosis and management of the disorder. This review summarizes recent advances in molecular genetics and discusses the application of next-generation sequencing technology in genetic testing in ACM. RECENT FINDINGS: Use of next-generation sequencing methods has resulted in the identification of novel causative variants and genes for ACM. The involvement of filamin C in ACM demonstrates the genetic overlap between ACM and other types of cardiomyopathy. Putative pathogenic variants have been detected in cadherin 2 gene, a protein involved in cell adhesion. Large genomic rearrangements in desmosome genes have been systematically investigated in a cohort of ACM patients. SUMMARY: Recent studies have identified novel causes of ACM providing new insights into the genetic spectrum of the disease and highlighting an overlapping phenotype between ACM and dilated cardiomyopathy. Next-generation sequencing is a useful tool for research and genetic diagnostic screening but interpretation of identified sequence variants requires caution and should be performed in specialized centres.

Type: Article
Title: Genetic basis of arrhythmogenic cardiomyopathy
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1097/HCO.0000000000000509
Publisher version: https://doi.org/10.1097/HCO.0000000000000509
Language: English
Additional information: Copyright © 2018 Wolters Kluwer Health, Inc. Unauthorized reproduction of this article is prohibited. This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Arrhythmogenic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, genetics, mutations, next-generation sequencing
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > Institute of Cardiovascular Science
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > Institute of Cardiovascular Science > Clinical Science
URI: http://discovery.ucl.ac.uk/id/eprint/10045826
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