Please use this identifier to cite or link to this item:
https://hdl.handle.net/10316/103200
DC Field | Value | Language |
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dc.contributor.author | Ferreira, Cátia Santos | - |
dc.contributor.author | Baptista, Rui | - |
dc.contributor.author | Teixeira, Tiago | - |
dc.contributor.author | Gonçalves, Lino | - |
dc.date.accessioned | 2022-10-21T08:46:10Z | - |
dc.date.available | 2022-10-21T08:46:10Z | - |
dc.date.issued | 2022 | - |
dc.identifier.issn | 1471-2261 | - |
dc.identifier.uri | https://hdl.handle.net/10316/103200 | - |
dc.description.abstract | Background: Arrhythmogenic cardiomyopathy (AC) is a rare, heritable myocardial disorder that is a leading cause of ventricular arrhythmia and sudden cardiac death (SCD) in young people. Desmoplakin (DSP) mutations account for 3–20% of AC cases. However, the number of patients with DSP mutations is extremely small in all published reports and genotype–phenotype correlations are scant and mostly non-gene-specific. Case presentation: A 45-year-old man was admitted after an out-of-hospital cardiac arrest, with documented ventricular fibrillation. He had no previous history of heart disease or family history of SCD or cardiomyopathy. The cardiac magnetic resonance showed a mildly dilated left ventricle with an ejection fraction of 30% and a non-dilated right ventricle with mildly depressed systolic function, and extensive subepicardial late gadolinium enhancement. Genetic screening identified a heterozygote nonsense mutation in DSP (NM_004415.2: c.478 C > T; p.Arg160Ter). Cascade genetic screening of the relatives revealed a high prevalence of the genotype and cutaneous phenotype, but a very low penetrance of the cardiac phenotype. Conclusions: We report a case of SCD and an autosomal dominant mutation in DSP that causes arrhythmogenic dilated cardiomyopathy/AC. Like the recessive mutation in DSP known to cause Carvajal syndrome, Arg160Ter may be associated with cutaneous abnormalities. | pt |
dc.language.iso | eng | pt |
dc.relation | POCI-01-0145-FEDER-032414 | pt |
dc.rights | openAccess | pt |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | pt |
dc.subject | Arrhythmogenic cardiomyopathy | pt |
dc.subject | Dilated cardiomyopathy | pt |
dc.subject | Sudden cardiac death | pt |
dc.subject | Desmoplakin mutation | pt |
dc.subject | Cutaneous abnormalities | pt |
dc.subject | Case report | pt |
dc.title | A 45-year-old man with sudden cardiac death, cutaneous abnormalities and a rare desmoplakin mutation: a case report and literature review | pt |
dc.type | article | pt |
degois.publication.firstPage | 41 | pt |
degois.publication.issue | 1 | pt |
degois.publication.title | BMC Cardiovascular Disorders | pt |
dc.peerreviewed | yes | pt |
dc.identifier.doi | 10.1186/s12872-022-02472-5 | - |
degois.publication.volume | 22 | pt |
dc.date.embargo | 2022-01-01 | * |
dc.identifier.pmid | 35151254 | - |
uc.date.periodoEmbargo | 0 | pt |
dc.identifier.eissn | 1471-2261 | - |
item.fulltext | Com Texto completo | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.languageiso639-1 | en | - |
item.openairetype | article | - |
item.cerifentitytype | Publications | - |
item.grantfulltext | open | - |
crisitem.author.researchunit | ICBR Coimbra Institute for Clinical and Biomedical Research | - |
crisitem.author.researchunit | CNC - Center for Neuroscience and Cell Biology | - |
crisitem.author.parentresearchunit | Faculty of Medicine | - |
crisitem.author.orcid | 0000-0002-7411-7039 | - |
crisitem.author.orcid | 0000-0001-9255-3064 | - |
Appears in Collections: | I&D ICBR - Artigos em Revistas Internacionais |
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A-45yearold-man-with-sudden-cardiac-death-cutaneous-abnormalities-and-a-rare-desmoplakin-mutation-a-case-report-and-literature-reviewBMC-Cardiovascular-Disorders.pdf | 1.09 MB | Adobe PDF | View/Open |
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