Patel, V;
Asatryan, B;
Siripanthong, B;
Munroe, PB;
Tiku-Owens, A;
Lopes, LR;
Khanji, MY;
... Chahal, CAA; + view all
(2020)
State of the Art Review on Genetics and Precision Medicine in Arrhythmogenic Cardiomyopathy.
International Journal of Molecular Sciences
, 21
(18)
, Article 6615. 10.3390/ijms21186615.
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Abstract
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.
| Type: | Article |
|---|---|
| Title: | State of the Art Review on Genetics and Precision Medicine in Arrhythmogenic Cardiomyopathy |
| Location: | Switzerland |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.3390/ijms21186615 |
| Publisher version: | https://doi.org/10.3390/ijms21186615 |
| Language: | English |
| Additional information: | This is an open access article distributed under the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
| Keywords: | arrhythmogenic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, cardiac arrhythmia, desmosome, genetics, genotype phenotype correlation, sudden cardiac death |
| UCL classification: | UCL 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 Population Health Sciences > Institute of Cardiovascular Science UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science > Clinical Science |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/10110681 |
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