Publicação
The contribution of genetics to the understanding and management of cardiomyopathies: part 1
| dc.contributor.author | Cardoso, Isabel | |
| dc.contributor.author | Nunes, Sofia | |
| dc.contributor.author | Brás, Pedro | |
| dc.contributor.author | Viegas, José Miguel | |
| dc.contributor.author | Marques Antunes, Miguel | |
| dc.contributor.author | Ferreira, André | |
| dc.contributor.author | Almeida, Inês | |
| dc.contributor.author | Custódio, Inês | |
| dc.contributor.author | Trigo, Conceição | |
| dc.contributor.author | Laranjo, Sergio | |
| dc.contributor.author | Graça, Rafael | |
| dc.contributor.author | Ferreira, Rui Cruz | |
| dc.contributor.author | Oliveira, Mario | |
| dc.contributor.author | Aguiar Rosa, Sílvia | |
| dc.contributor.author | Antunes, Diana | |
| dc.date.accessioned | 2025-04-11T11:03:14Z | |
| dc.date.available | 2025-04-11T11:03:14Z | |
| dc.date.issued | 2025 | |
| dc.description | © 2025 Published by Elsevier España, S.L.U. on behalf of Sociedade Portuguesa de Cardiologia. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). | pt_PT |
| dc.description.abstract | 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 by enabling cost-effective, high-throughput analysis. It is imperative for cardiovascular physicians to mainstream genetic testing into their clinical decision-making. Although a definitive genotype-phenotype correlation may not always be evident, several genotypes have emerged as valuable risk predictors for disease severity and progression. European guidelines emphasize the importance of genetic tests for predicting clinical outcome in cardiomyopathies. While further research is essential to bridge existing gaps in the genetic evidence on cardiomyopathies, there is considerable potential for significant advancements. | pt_PT |
| dc.description.abstract | A genética assumiu um papel fundamental na clarificação da fisiopatologia das miocardiopatias, facilitando o diagnóstico molecular e possibilitando o rastreio familiar eficaz. O desenvolvimento da sequenciação de nova geração revolucionou os testes genéticos, permitindo análises de alto rendimento a custos acessíveis. Atualmente, a incorporação dos testes genéticos no processo de tomada de decisões clínicas é essencial. Embora nem sempre exista uma correlação genótipo-fenótipo reproduzível, diversos genótipos surgiram como preditores de risco para a gravidade e progressão da doença. As guidelines europeias advogam o uso de testes genético nas suas recomendações, demonstrando notáveis vantagens na previsão de outcomes clínicos. Embora sejam necessárias mais estudos para preencher as lacunas na compreensão da genética associada às miocardiopatias, o potencial para avanços é vasto. | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.citation | Rev Port Cardiol. 2025 Apr;44(4):245-254 | pt_PT |
| dc.identifier.doi | 10.1016/j.repc.2024.11.012 | pt_PT |
| dc.identifier.eissn | 2174-2030 | |
| dc.identifier.issn | 0870-2551 | |
| dc.identifier.uri | http://hdl.handle.net/10400.5/100149 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.publisher | Elsevier | pt_PT |
| dc.relation.publisherversion | https://www.sciencedirect.com/journal/revista-portuguesa-de-cardiologia | pt_PT |
| dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | pt_PT |
| dc.subject | Cardiomyopathies | pt_PT |
| dc.subject | Genetics | pt_PT |
| dc.subject | Genotype | pt_PT |
| dc.subject | Next-generation sequencing | pt_PT |
| dc.title | The contribution of genetics to the understanding and management of cardiomyopathies: part 1 | pt_PT |
| dc.title.alternative | O contributo da genética para a compreensão e diagnóstico das miocardiopatias: parte 1 | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 254 | pt_PT |
| oaire.citation.issue | 4 | pt_PT |
| oaire.citation.startPage | 245 | pt_PT |
| oaire.citation.title | Revista Portuguesa de Cardiologia | pt_PT |
| oaire.citation.volume | 44 | pt_PT |
| person.familyName | Laranjo | |
| person.familyName | Graça | |
| person.familyName | Cruz Ferreira | |
| person.familyName | Martins Oliveira | |
| person.familyName | Antunes | |
| person.givenName | Sergio | |
| person.givenName | Rafael | |
| person.givenName | Rui Manuel | |
| person.givenName | Mario Joao | |
| person.givenName | Diana | |
| person.identifier | 36332 | |
| person.identifier.ciencia-id | 2616-79AF-3D42 | |
| person.identifier.ciencia-id | 351B-92E1-0C50 | |
| person.identifier.ciencia-id | 4616-CC51-461D | |
| person.identifier.ciencia-id | 2312-2190-19B2 | |
| person.identifier.orcid | 0000-0002-0887-8219 | |
| person.identifier.orcid | 0000-0003-2169-4024 | |
| person.identifier.orcid | 0000-0003-3725-0268 | |
| person.identifier.orcid | 0000-0002-9747-5293 | |
| person.identifier.orcid | 0000-0002-8371-8354 | |
| person.identifier.orcid | 0000-0002-6876-1688 | |
| person.identifier.rid | G-2909-2011 | |
| person.identifier.rid | P-8052-2016 | |
| person.identifier.scopus-author-id | 24391148400 | |
| person.identifier.scopus-author-id | 57189629378 | |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | article | pt_PT |
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