State of the Art Review on Genetics and Precision Medicine in Arrhythmogenic Cardiomyopathy.
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BORIS DOI
Date of Publication
September 10, 2020
Publication Type
Article
Division/Institute
Author
Patel, Viraj | |
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 |
Subject(s)
Series
International journal of molecular sciences
ISSN or ISBN (if monograph)
1422-0067
Publisher
MDPI
Language
English
Publisher DOI
PubMed ID
32927679
Uncontrolled Keywords
Description
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.
File(s)
File | File Type | Format | Size | License | Publisher/Copright statement | Content | |
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2020_State_of_the_Art_Review_on_Genetics_and_Precision_Medicine_in_ACM.pdf | text | Adobe PDF | 15.89 MB | published |