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State of the Art Review on Genetics and Precision Medicine in Arrhythmogenic Cardiomyopathy
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...
| Autores principales: | , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7554944/ https://www.ncbi.nlm.nih.gov/pubmed/32927679 http://dx.doi.org/10.3390/ijms21186615 |
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| author | 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. |
| author_facet | 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. |
| author_sort | Patel, Viraj |
| collection | PubMed |
| 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. |
| format | Online Article Text |
| id | pubmed-7554944 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2020 |
| publisher | MDPI |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-75549442020-10-14 State of the Art Review on Genetics and Precision Medicine in Arrhythmogenic Cardiomyopathy 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. Int J Mol Sci Review 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. MDPI 2020-09-10 /pmc/articles/PMC7554944/ /pubmed/32927679 http://dx.doi.org/10.3390/ijms21186615 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
| spellingShingle | Review 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. State of the Art Review on Genetics and Precision Medicine in Arrhythmogenic Cardiomyopathy |
| title | State of the Art Review on Genetics and Precision Medicine in Arrhythmogenic Cardiomyopathy |
| title_full | State of the Art Review on Genetics and Precision Medicine in Arrhythmogenic Cardiomyopathy |
| title_fullStr | State of the Art Review on Genetics and Precision Medicine in Arrhythmogenic Cardiomyopathy |
| title_full_unstemmed | State of the Art Review on Genetics and Precision Medicine in Arrhythmogenic Cardiomyopathy |
| title_short | State of the Art Review on Genetics and Precision Medicine in Arrhythmogenic Cardiomyopathy |
| title_sort | state of the art review on genetics and precision medicine in arrhythmogenic cardiomyopathy |
| topic | Review |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7554944/ https://www.ncbi.nlm.nih.gov/pubmed/32927679 http://dx.doi.org/10.3390/ijms21186615 |
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