Patel, Viraj; Asatryan, Babken; Siripanthong, Bhurint; Munroe, Patricia B; Tiku-Owens, Anjali; Lopes, Luis R; Khanji, Mohammed Y; Protonotarios, Alexandros; Santangeli, Pasquale; Muser, Daniele; Marchlinski, Francis E; Brady, Peter A; Chahal, C Anwar A (2020). State of the Art Review on Genetics and Precision Medicine in Arrhythmogenic Cardiomyopathy. International journal of molecular sciences, 21(18) MDPI 10.3390/ijms21186615
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2020_State_of_the_Art_Review_on_Genetics_and_Precision_Medicine_in_ACM.pdf - Published Version Available under License Creative Commons: Attribution (CC-BY). Download (16MB) | Preview |
Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiomyopathy characterised by ventricular arrhythmia and an increased risk of sudden cardiac death (SCD). Numerous genetic determinants and phenotypic manifestations have been discovered in ACM, posing a significant clinical challenge. Further to this, wider evaluation of family members has revealed incomplete penetrance and variable expressivity in ACM, suggesting a complex genotype-phenotype relationship. This review details the genetic basis of ACM with specific genotype-phenotype associations, providing the reader with a nuanced perspective of this condition; whilst also proposing a future roadmap to delivering precision medicine-based management in ACM.
Item Type: |
Journal Article (Review Article) |
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Division/Institute: |
04 Faculty of Medicine > Department of Cardiovascular Disorders (DHGE) > Clinic of Cardiology 04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > DBMR Forschung Mu35 > Forschungsgruppe Kardiologie 04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > DBMR Forschung Mu35 > Forschungsgruppe Kardiologie |
UniBE Contributor: |
Asatryan, Babken |
Subjects: |
600 Technology > 610 Medicine & health |
ISSN: |
1422-0067 |
Publisher: |
MDPI |
Language: |
English |
Submitter: |
Babken Asatryan |
Date Deposited: |
30 Nov 2021 16:52 |
Last Modified: |
05 Dec 2022 15:54 |
Publisher DOI: |
10.3390/ijms21186615 |
PubMed ID: |
32927679 |
Uncontrolled Keywords: |
arrhythmogenic cardiomyopathy arrhythmogenic right ventricular cardiomyopathy cardiac arrhythmia desmosome genetics genotype phenotype correlation sudden cardiac death |
BORIS DOI: |
10.48350/160940 |
URI: |
https://boris.unibe.ch/id/eprint/160940 |
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