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The contribution of genetics to the understanding and management of cardiomyopathies

2025-05Recensão Acesso aberto
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dc.contributor.authorCardoso, Isabel
dc.contributor.authorMelo, Mafalda
dc.contributor.authorBrás, Pedro
dc.contributor.authorViegas, José Miguel
dc.contributor.authorAlmeida, Inês
dc.contributor.authorNunes, Sofia
dc.contributor.authorCustódio, Inês
dc.contributor.authorTrigo, Conceição
dc.contributor.authorLaranjo, Sérgio
dc.contributor.authorLaranjo, Sergio
dc.contributor.authorGraça, Rafael
dc.contributor.authorCruz Ferreira, Rui
dc.contributor.authorOliveira, Mário
dc.contributor.authorMartins
dc.contributor.authorAguiar Rosa, Sílvia
dc.contributor.authorAntunes, Diana
dc.contributor.institutionNOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
dc.contributor.pblSociedade Portuguesa de Cardiologia | Elsevier
dc.date.accessioned2025-07-28T21:17:41Z
dc.date.available2025-07-30T00:31:56Z
dc.date.embargoedUntil2025-07-29
dc.date.issued2025-05
dc.descriptionPublisher Copyright: © 2025 Sociedade Portuguesa de Cardiologia
dc.description.abstractCardiomyopathies may present as a manifestation of various inherited syndromes. Recognizing the rarity and diagnostic challenges of syndromic and metabolic cardiomyopathies is crucial, as their identification holds significant implications for targeted treatment and enables the use of specific risk stratification tools. Genetics has assumed a pivotal role in clarifying the pathophysiology of cardiomyopathies, facilitating molecular diagnosis, and enabling effective family screening. The advent of next-generation sequencing has revolutionized genetic testing, enabling cost-effective, high-throughput analyses, facilitating the diagnosis of these rare conditions, and allowing the provision of specific management and therapeutics.en
dc.description.versionpublishersversion
dc.description.versionpublished
dc.format.extent9
dc.format.extent655421
dc.identifier.doi10.1016/j.repc.2024.11.016
dc.identifier.issn0870-2551
dc.identifier.otherPURE: 115300760
dc.identifier.otherPURE UUID: 28951875-d62f-421c-bab8-f04cfa4526ac
dc.identifier.otherScopus: 105003257334
dc.identifier.otherScopus: 105002667760
dc.identifier.urihttp://hdl.handle.net/10362/185649
dc.identifier.urlhttps://www.scopus.com/pages/publications/105002667760
dc.language.isoeng
dc.peerreviewedyes
dc.subjectGenetics
dc.subjectGenotype
dc.subjectMetabolic cardiomyopathies
dc.subjectRisk stratification
dc.subjectSyndromic cardiomyopathies
dc.subjectCardiology and Cardiovascular Medicine
dc.titleThe contribution of genetics to the understanding and management of cardiomyopathiesen
dc.title.subtitlePart 2en
dc.typereview
degois.publication.firstPage321
degois.publication.issue5
degois.publication.lastPage329
degois.publication.titleRevista Portuguesa de Cardiologia
degois.publication.volume44
dspace.entity.typePublication
person.familyNameLaranjo
person.familyNameOliveira
person.givenNameSergio
person.givenNameMário
person.identifier36332
person.identifier.ciencia-id351B-92E1-0C50
person.identifier.ciencia-id2312-2190-19B2
person.identifier.orcid0000-0003-2169-4024
person.identifier.orcid0000-0002-8371-8354
person.identifier.ridG-2909-2011
person.identifier.scopus-author-id24391148400
rcaap.rightsopenAccess
relation.isAuthorOfPublication57b8fd07-1401-449a-8678-0d4c9eaca5db
relation.isAuthorOfPublication7a12c5bc-a249-4a52-8cf9-4f52f75e9015
relation.isAuthorOfPublication.latestForDiscovery7a12c5bc-a249-4a52-8cf9-4f52f75e9015

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