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...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Review
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
Descripción
Sumario: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.

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