que se leu este artigo
array:23 [ "pii" => "S087025512100528X" "issn" => "08702551" "doi" => "10.1016/j.repc.2021.12.010" "estado" => "S300" "fechaPublicacion" => "2022-03-01" "aid" => "1884" "copyrightAnyo" => "2021" "documento" => "simple-article" "crossmark" => 1 "licencia" => "http://creativecommons.org/licenses/by-nc-nd/4.0/" "subdocumento" => "dis" "cita" => "Rev Port Cardiol. 2022;41:261-2" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:1 [ "total" => 0 ] "itemSiguiente" => array:19 [ "pii" => "S0870255121005291" "issn" => "08702551" "doi" => "10.1016/j.repc.2021.06.017" "estado" => "S300" "fechaPublicacion" => "2022-03-01" "aid" => "1885" "copyright" => "Sociedade Portuguesa de Cardiologia" "documento" => "article" "crossmark" => 1 "licencia" => "http://creativecommons.org/licenses/by-nc-nd/4.0/" "subdocumento" => "sco" "cita" => "Rev Port Cardiol. 2022;41:263-4" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:1 [ "total" => 0 ] "en" => array:11 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Image in Cardiology</span>" "titulo" => "Left atrial appendage thrombosis discovered by transthoracic echocardiography" "tienePdf" => "en" "tieneTextoCompleto" => "en" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "263" "paginaFinal" => "264" ] ] "titulosAlternativos" => array:1 [ "pt" => array:1 [ "titulo" => "Trombose de apêndice auricular esquerdo detetada por ecocardiografia transtorácica" ] ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 685 "Ancho" => 905 "Tamanyo" => 68156 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Transthoracic echocardiogram: 4-chamber off-axis view, showing severe left atrial appendage enlargement with smoke and a massive thrombosis of the fundus.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Amedeo Pergolini, Giordano Zampi, Daniele Pontillo" "autores" => array:3 [ 0 => array:2 [ "nombre" => "Amedeo" "apellidos" => "Pergolini" ] 1 => array:2 [ "nombre" => "Giordano" "apellidos" => "Zampi" ] 2 => array:2 [ "nombre" => "Daniele" "apellidos" => "Pontillo" ] ] ] ] ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0870255121005291?idApp=UINPBA00004E" "url" => "/08702551/0000004100000003/v2_202205020512/S0870255121005291/v2_202205020512/en/main.assets" ] "itemAnterior" => array:19 [ "pii" => "S0870255121005229" "issn" => "08702551" "doi" => "10.1016/j.repc.2018.09.018" "estado" => "S300" "fechaPublicacion" => "2022-03-01" "aid" => "1879" "copyright" => "Sociedade Portuguesa de Cardiologia" "documento" => "simple-article" "crossmark" => 1 "licencia" => "http://creativecommons.org/licenses/by-nc-nd/4.0/" "subdocumento" => "crp" "cita" => "Rev Port Cardiol. 2022;41:253-9" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:1 [ "total" => 0 ] "en" => array:13 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Case report</span>" "titulo" => "Left ventricular noncompaction associated with a pathogenic mutation in the <span class="elsevierStyleItalic">MYH7</span> gene: Known mutation, different phenotype" "tienePdf" => "en" "tieneTextoCompleto" => "en" "tieneResumen" => array:2 [ 0 => "en" 1 => "pt" ] "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "253" "paginaFinal" => "259" ] ] "titulosAlternativos" => array:1 [ "pt" => array:1 [ "titulo" => "Não compactação do ventrículo esquerdo associada a mutação no gene MYH7: mutação conhecida, fenótipo alternativo!" ] ] "contieneResumen" => array:2 [ "en" => true "pt" => true ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 667 "Ancho" => 905 "Tamanyo" => 53026 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">Transthoracic echocardiogram of the index patient showing myocardial hypertrabeculation in apical 4-chamber view, clearly fulfilling the Stöllberger diagnostic criteria for LVNC.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Margarida Oliveira, Olga Azevedo, Bebiana Faria, Pedro von Hafe, Geraldo Dias, Ricardo Faria, Victor Sanfins, Mário Lourenço, Gabriel Miltenberger-Miltenyi, António Lourenço" "autores" => array:10 [ 0 => array:2 [ "nombre" => "Margarida" "apellidos" => "Oliveira" ] 1 => array:2 [ "nombre" => "Olga" "apellidos" => "Azevedo" ] 2 => array:2 [ "nombre" => "Bebiana" "apellidos" => "Faria" ] 3 => array:2 [ "nombre" => "Pedro" "apellidos" => "von Hafe" ] 4 => array:2 [ "nombre" => "Geraldo" "apellidos" => "Dias" ] 5 => array:2 [ "nombre" => "Ricardo" "apellidos" => "Faria" ] 6 => array:2 [ "nombre" => "Victor" "apellidos" => "Sanfins" ] 7 => array:2 [ "nombre" => "Mário" "apellidos" => "Lourenço" ] 8 => array:2 [ "nombre" => "Gabriel" "apellidos" => "Miltenberger-Miltenyi" ] 9 => array:2 [ "nombre" => "António" "apellidos" => "Lourenço" ] ] ] ] ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0870255121005229?idApp=UINPBA00004E" "url" => "/08702551/0000004100000003/v2_202205020512/S0870255121005229/v2_202205020512/en/main.assets" ] "en" => array:12 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Editorial comment</span>" "titulo" => "Left ventricular non-compaction: Challenges in the etiopathogenesis and risk stratification of sudden cardiac death in clinical practice" "tieneTextoCompleto" => true "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "261" "paginaFinal" => "262" ] ] "autores" => array:1 [ 0 => array:3 [ "autoresLista" => "Nuno Marques" "autores" => array:1 [ 0 => array:4 [ "nombre" => "Nuno" "apellidos" => "Marques" "email" => array:1 [ 0 => "marqns@gmail.com" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] ] "afiliaciones" => array:2 [ 0 => array:3 [ "entidad" => "ABC-RI - Algarve Biomedical Center Research Institute, Faro, Portugal" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Faculdade de Medicina e Ciências Biomédicas da Universidade do Algarve, Faro, Portugal" "etiqueta" => "b" "identificador" => "aff0010" ] ] ] ] "titulosAlternativos" => array:1 [ "pt" => array:1 [ "titulo" => "Não compactação ventricular esquerda: desafios na etiopatogénese e na estratificação de risco de morte súbita na prática clínica" ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">In their study published in this issue of the <span class="elsevierStyleItalic">Journal</span>,<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">1</span></a> 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.</p><p id="par0010" class="elsevierStylePara elsevierViewall">A family history of LVNC has been described in about 30% of cases<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">2</span></a> and a pathogenic mutation has been found in nearly one-third.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">3</span></a> Although LVNC is a genetically heterogeneous cardiomyopathy, sarcomere mutations represent more than half of the known genetic causes, especially in adults, and <span class="elsevierStyleItalic">MYH7</span> is one of the most commonly mutated genes.<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">2</span></a> 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. Moreover, the previous report of this <span class="elsevierStyleItalic">MYH7</span> mutation in a case of hypertrophic cardiomyopathy further supports the notion that the same mutation may be associated with different cardiomyopathy phenotypes.</p><p id="par0015" class="elsevierStylePara elsevierViewall">The etiopathogenesis of LVNC is largely unknown. Recently, cellular models, such as induced pluripotent stem cell lines derived from LVNC patients, have been developed and may prove useful to clarify the molecular, genetic, and functional aspects of the condition.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">4</span></a></p><p id="par0020" class="elsevierStylePara elsevierViewall">Risk stratification of sudden cardiac death in LVNC is also a complex matter, particularly in the primary prevention setting, given the lack of robust evidence supporting clinical practice. Although the optimal risk stratification strategy is not clear, it will probably lie in a multiparametric assessment, in which left ventricular function appears to play a major role, as patients with reduced left ventricular systolic function have been found to be at a 4.6-fold higher risk for major adverse cardiac events (MACE).<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">5</span></a> The role of genetic testing for risk stratification in LVNC is still a matter of debate and a deeper understanding of genotype-phenotype correlations in LVNC is necessary. The identification of pathogenic mutations has been associated with a higher risk of MACE. However, it is noteworthy that sarcomere mutations have been associated with a lower risk of such events compared to other genetic causes.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">3</span></a> By contrast, other studies have not found genetic variants to be predictors of the risk of MACE.<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">5</span></a> Therefore, as illustrated in the case presented by Oliveira et al.,<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">1</span></a> decisions on cardioverter-defibrillator implantation may be complex in current clinical practice and individualized clinical judgment by a specialized cardiomyopathy team is pivotal for accurate patient risk stratification.</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Conflicts of interest</span><p id="par0025" class="elsevierStylePara elsevierViewall">The author has no conflicts of interest to declare.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:2 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Conflicts of interest" ] 1 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0015" "bibliografiaReferencia" => array:5 [ 0 => array:3 [ "identificador" => "bib0030" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Left ventricular noncompaction associated with a pathogenic mutation in the MYH7 gene: known mutation, different phenotype" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:3 [ 0 => "M. Oliveira" 1 => "O. Azevedo" 2 => "B. Faria" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:3 [ "tituloSerie" => "Rev Port Cardiol" "fecha" => "2022" "volumen" => "41" ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib0035" "etiqueta" => "2" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Systematic review of genotype-phenotype correlations in noncompaction cardiomyopathy" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:3 [ 0 => "J.I. van Waning" 1 => "J. Moesker" 2 => "D. Heijsman" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1161/JAHA.119.012993" "Revista" => array:5 [ "tituloSerie" => "J Am Heart Assoc" "fecha" => "2019" "volumen" => "8" "paginaInicial" => "e012993" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/31771441" "web" => "Medline" ] ] ] ] ] ] ] ] 2 => array:3 [ "identificador" => "bib0040" "etiqueta" => "3" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "A wide and specific spectrum of genetic variants and genotype-phenotype correlations revealed by next-generation sequencing in patients with left ventricular noncompaction" "autores" => array:1 [ 0 => array:3 [ "colaboracion" => "for LVNC Study Collaborators" "etal" => true "autores" => array:3 [ 0 => "C. Wang" 1 => "Y. Hata" 2 => "K. Hirono" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1161/JAHA.117.006210" "Revista" => array:5 [ "tituloSerie" => "J Am Heart Assoc" "fecha" => "2017" "volumen" => "6" "paginaInicial" => "e006210" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/28855170" "web" => "Medline" ] ] ] ] ] ] ] ] 3 => array:3 [ "identificador" => "bib0045" "etiqueta" => "4" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Generation and cardiac differentiation of a human induced pluripotent stem cell line UALGi002-A from a female patient with Left-Ventricular Noncompaction Cardiomyopathy" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:3 [ 0 => "S.M. Calado" 1 => "D. Bento" 2 => "N. Marques" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1016/j.scr.2021.102462" "Revista" => array:5 [ "tituloSerie" => "Stem Cell Res" "fecha" => "2021" "volumen" => "55" "paginaInicial" => "102462" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/34280889" "web" => "Medline" ] ] ] ] ] ] ] ] 4 => array:3 [ "identificador" => "bib0050" "etiqueta" => "5" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Reduced systolic function and not genetic variants determine outcome in pediatric and adult left ventricular noncompaction cardiomyopathy" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:3 [ 0 => "A. Schultze-Berndt" 1 => "J. Kühnisch" 2 => "C. Herbst" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.3389/fped.2021.722926" "Revista" => array:5 [ "tituloSerie" => "Front Pediatr" "fecha" => "2021" "volumen" => "9" "paginaInicial" => "722926" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/34540771" "web" => "Medline" ] ] ] ] ] ] ] ] ] ] ] ] ] "idiomaDefecto" => "en" "url" => "/08702551/0000004100000003/v2_202205020512/S087025512100528X/v2_202205020512/en/main.assets" "Apartado" => array:4 [ "identificador" => "93357" "tipo" => "SECCION" "pt" => array:2 [ "titulo" => "Case Report" "idiomaDefecto" => true ] "idiomaDefecto" => "pt" ] "PDF" => "https://static.elsevier.es/multimedia/08702551/0000004100000003/v2_202205020512/S087025512100528X/v2_202205020512/en/main.pdf?idApp=UINPBA00004E&text.app=https://revportcardiol.org/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S087025512100528X?idApp=UINPBA00004E" ]
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