Publication:
State of the Art Review on Genetics and Precision Medicine in Arrhythmogenic Cardiomyopathy.

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cris.virtual.author-orcid0000-0002-0050-5717
cris.virtualsource.author-orcid47ad88bb-91b4-4f4e-8697-875fadb6a2c6
datacite.rightsopen.access
dc.contributor.authorPatel, Viraj
dc.contributor.authorAsatryan, Babken
dc.contributor.authorSiripanthong, Bhurint
dc.contributor.authorMunroe, Patricia B
dc.contributor.authorTiku-Owens, Anjali
dc.contributor.authorLopes, Luis R
dc.contributor.authorKhanji, Mohammed Y
dc.contributor.authorProtonotarios, Alexandros
dc.contributor.authorSantangeli, Pasquale
dc.contributor.authorMuser, Daniele
dc.contributor.authorMarchlinski, Francis E
dc.contributor.authorBrady, Peter A
dc.contributor.authorChahal, C Anwar A
dc.date.accessioned2024-10-05T06:59:38Z
dc.date.available2024-10-05T06:59:38Z
dc.date.issued2020-09-10
dc.description.abstractArrhythmogenic 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.
dc.description.numberOfPages47
dc.description.sponsorshipUniversitätsklinik für Kardiologie
dc.identifier.doi10.48350/160940
dc.identifier.pmid32927679
dc.identifier.publisherDOI10.3390/ijms21186615
dc.identifier.urihttps://boris-portal.unibe.ch/handle/20.500.12422/54293
dc.language.isoen
dc.publisherMDPI
dc.relation.ispartofInternational journal of molecular sciences
dc.relation.issn1422-0067
dc.relation.organizationDCD5A442BB15E17DE0405C82790C4DE2
dc.relation.organizationDCD5A442C26DE17DE0405C82790C4DE2
dc.subjectarrhythmogenic cardiomyopathy arrhythmogenic right ventricular cardiomyopathy cardiac arrhythmia desmosome genetics genotype phenotype correlation sudden cardiac death
dc.subject.ddc600 - Technology::610 - Medicine & health
dc.titleState of the Art Review on Genetics and Precision Medicine in Arrhythmogenic Cardiomyopathy.
dc.typearticle
dspace.entity.typePublication
dspace.file.typetext
oaire.citation.issue18
oaire.citation.volume21
oairecerif.author.affiliationUniversitätsklinik für Kardiologie
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unibe.date.licenseChanged2021-11-30 15:52:00
unibe.description.ispublishedpub
unibe.eprints.legacyId160940
unibe.refereedtrue
unibe.subtype.articlereview

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