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Left ventricular non-compaction: challenges in the etiopathogenesis and risk stratification of sudden cardiac death in clinical practice

dc.contributor.authorMarques, Nuno
dc.date.accessioned2022-12-06T16:10:49Z
dc.date.available2022-12-06T16:10:49Z
dc.date.issued2022-07
dc.description.abstractIn their study published in this issue of the Journal,1 Oliveira et al. elegantly described a family of patients with left ventricular non-compaction (LVNC), illustrating the challenges in clinical practice regarding etiological investigation and risk stratification of sudden cardiac death in these patients. A family history of LVNC has been described in about 30% of cases2 and a pathogenic mutation has been found in nearly one-third.3 Although LVNC is a genetically heterogeneous cardiomyopathy, sarcomere mutations represent more than half of the known genetic causes, especially in adults, and MYH7 is one of the most commonly mutated genes.2 Nevertheless, the causal relation between genetic variants and the LVNC phenotype remains to be ascertained in the majority of cases. This case report underlines the importance of a specialized cardiomyopathy team in the systematic genetic and clinical screening of family relatives and the interpretation of the clinical significance of genetic variants in LVNC.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.doi10.1016/j.repc.2021.12.010pt_PT
dc.identifier.eissn0304-4750
dc.identifier.urihttp://hdl.handle.net/10400.1/18590
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevierpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.titleLeft ventricular non-compaction: challenges in the etiopathogenesis and risk stratification of sudden cardiac death in clinical practicept_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage262pt_PT
oaire.citation.issue3pt_PT
oaire.citation.startPage261pt_PT
oaire.citation.titleRevista Portuguesa de Cardiologiapt_PT
oaire.citation.volume41pt_PT
person.familyNameMarques
person.givenNameNuno
person.identifier.orcid0000-0003-0275-2807
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication1b66ba1f-d295-4211-b41e-c0f0b622eea0
relation.isAuthorOfPublication.latestForDiscovery1b66ba1f-d295-4211-b41e-c0f0b622eea0

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