que se leu este artigo
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class="elsevierStyleSimplePara elsevierViewall">Flowchart of selection of index patients and division into groups for analysis and comparisons. <span class="elsevierStyleSup">a</span> See text for details. <span class="elsevierStyleSup">b</span> Genetic test: positive/negative: identification/non-identification of pathogenic or likely pathogenic mutation(s) in sarcomeric genes encoding beta-myosin heavy chain (<span class="elsevierStyleItalic">MYH7</span>), myosin-binding protein C (<span class="elsevierStyleItalic">MYBPC3</span>), cardiac troponin I and T (<span class="elsevierStyleItalic">TNNI3</span> and <span class="elsevierStyleItalic">TNNT2</span>), tropomyosin alpha-1 chain (<span class="elsevierStyleItalic">TPM1</span>), myosin light chain 3 (<span class="elsevierStyleItalic">MYL3</span>), myosin regulatory light chain 2 (<span class="elsevierStyleItalic">MYL2</span>), alpha cardiac actin (<span class="elsevierStyleItalic">ACTC1</span>), and muscle LIM protein (<span 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PRo-HCM: Portuguese Registry of Hypertrophic Cardiomyopathy.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Dulce Brito, Nuno Cardim, Luís Rocha Lopes, Adriana Belo, Jorge Mimoso, Lino Gonçalves, Hugo Madeira" "autores" => array:8 [ 0 => array:2 [ "nombre" => "Dulce" "apellidos" => "Brito" ] 1 => array:2 [ "nombre" => "Nuno" "apellidos" => "Cardim" ] 2 => array:2 [ "nombre" => "Luís Rocha" "apellidos" => "Lopes" ] 3 => array:2 [ "nombre" => "Adriana" "apellidos" => "Belo" ] 4 => array:2 [ "nombre" => "Jorge" "apellidos" => "Mimoso" ] 5 => array:2 [ "nombre" => "Lino" "apellidos" => "Gonçalves" ] 6 => array:2 [ "nombre" => "Hugo" "apellidos" => "Madeira" ] 7 => array:1 [ "colaborador" => "on behalf of the Portuguese Registry of Hypertrophic Cardiomyopathy (PRo-HCM) Investigators" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "en" => array:9 [ "pii" => "S2174204918302034" "doi" => "10.1016/j.repce.2018.06.002" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2174204918302034?idApp=UINPBA00004E" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0870255117307941?idApp=UINPBA00004E" "url" => "/08702551/0000003700000006/v2_201806270452/S0870255117307941/v2_201806270452/en/main.assets" ] "asociados" => array:1 [ 0 => array:20 [ "pii" => "S0870255117307941" "issn" => "08702551" "doi" => "10.1016/j.repc.2018.03.010" "estado" => "S300" "fechaPublicacion" => "2018-06-01" "aid" => "1223" "copyright" => "Sociedade Portuguesa de Cardiologia" "documento" => "article" "crossmark" => 1 "licencia" => "http://creativecommons.org/licenses/by-nc-nd/4.0/" "subdocumento" => "fla" "cita" => "Rev Port Cardiol. 2018;37:457-66" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:2 [ "total" => 2201 "formatos" => array:3 [ "EPUB" => 151 "HTML" => 1623 "PDF" => 427 ] ] "en" => array:13 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Original Article</span>" "titulo" => "Awareness of Fabry disease in cardiology: A gap to be filled" "tienePdf" => "en" "tieneTextoCompleto" => "en" "tieneResumen" => array:2 [ 0 => "en" 1 => "pt" ] "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "457" "paginaFinal" => "466" ] ] "titulosAlternativos" => array:1 [ "pt" => array:1 [ "titulo" => "Perceção da doença de Fabry em cardiologia: uma lacuna a preencher" ] ] "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" => 1923 "Ancho" => 2167 "Tamanyo" => 157891 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0045" class="elsevierStyleSimplePara elsevierViewall">Flowchart of selection of index patients and division into groups for analysis and comparisons. <span class="elsevierStyleSup">a</span> See text for details. <span class="elsevierStyleSup">b</span> Genetic test: positive/negative: identification/non-identification of pathogenic or likely pathogenic mutation(s) in sarcomeric genes encoding beta-myosin heavy chain (<span class="elsevierStyleItalic">MYH7</span>), myosin-binding protein C (<span class="elsevierStyleItalic">MYBPC3</span>), cardiac troponin I and T (<span class="elsevierStyleItalic">TNNI3</span> and <span class="elsevierStyleItalic">TNNT2</span>), tropomyosin alpha-1 chain (<span class="elsevierStyleItalic">TPM1</span>), myosin light chain 3 (<span class="elsevierStyleItalic">MYL3</span>), myosin regulatory light chain 2 (<span class="elsevierStyleItalic">MYL2</span>), alpha cardiac actin (<span class="elsevierStyleItalic">ACTC1</span>), and muscle LIM protein (<span class="elsevierStyleItalic">CSRP3</span>). PRo-HCM: Portuguese Registry of Hypertrophic Cardiomyopathy.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Dulce Brito, Nuno Cardim, Luís Rocha Lopes, Adriana Belo, Jorge Mimoso, Lino Gonçalves, Hugo Madeira" "autores" => array:8 [ 0 => array:2 [ "nombre" => "Dulce" "apellidos" => "Brito" ] 1 => array:2 [ "nombre" => "Nuno" "apellidos" => "Cardim" ] 2 => array:2 [ "nombre" => "Luís Rocha" "apellidos" => "Lopes" ] 3 => array:2 [ "nombre" => "Adriana" "apellidos" => "Belo" ] 4 => array:2 [ "nombre" => "Jorge" "apellidos" => "Mimoso" ] 5 => array:2 [ "nombre" => "Lino" "apellidos" => "Gonçalves" ] 6 => array:2 [ "nombre" => "Hugo" "apellidos" => "Madeira" ] 7 => array:1 [ "colaborador" => "on behalf of the Portuguese Registry of Hypertrophic Cardiomyopathy (PRo-HCM) Investigators" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "en" => array:9 [ "pii" => "S2174204918302034" "doi" => "10.1016/j.repce.2018.06.002" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2174204918302034?idApp=UINPBA00004E" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0870255117307941?idApp=UINPBA00004E" "url" => "/08702551/0000003700000006/v2_201806270452/S0870255117307941/v2_201806270452/en/main.assets" ] ] "en" => array:12 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Editorial comment</span>" "titulo" => "Fabry disease: Something cardiologists must always bear in mind" "tieneTextoCompleto" => true "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "467" "paginaFinal" => "468" ] ] "autores" => array:1 [ 0 => array:3 [ "autoresLista" => "Nuno Bettencourt" "autores" => array:1 [ 0 => array:3 [ "nombre" => "Nuno" "apellidos" => "Bettencourt" "email" => array:1 [ 0 => "bettencourt.n@gmail.com" ] ] ] "afiliaciones" => array:1 [ 0 => array:2 [ "entidad" => "Unidade de Investigação Cardiovascular, Faculdade de Medicina da Universidade do Porto, Porto, Portugal" "identificador" => "aff0005" ] ] ] ] "titulosAlternativos" => array:1 [ "pt" => array:1 [ "titulo" => "Doença de Fabry – um lembrete obrigatório para os cardiologistas!" ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">In this issue of the <span class="elsevierStyleItalic">Journal</span>, Brito et al. present a very interesting work<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">1</span></a> based on data extracted from the Portuguese Registry of Hypertrophic Cardiomyopathy.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">2</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">Focusing on a non-mandatory question from this registry, concerning the exclusion of Anderson-Fabry disease in the differential diagnosis, the authors concluded that this entity is seldom studied in the workup of patients with unexplained left ventricular hypertrophy. According to their data, Fabry disease was recorded as excluded in only 27% of the patients included in the registry. Alpha-galactosidase A (α-Gal A) activity was assessed in 18% and <span class="elsevierStyleItalic">GLA</span> gene testing was only performed in 23% of cases. Among patients with potential red flags for Fabry disease (including concentric left ventricular hypertrophy, short or prolonged PR interval, intraventricular conduction disturbances or bradyarrhythmias requiring pacemaker implantation), fewer than half (47%) underwent specific tests (<span class="elsevierStyleItalic">GLA</span> gene testing and/or α-Gal A activity).</p><p id="par0015" class="elsevierStylePara elsevierViewall">These results are even more striking if we note that only cardiology departments were included in the registry, which is totally voluntary, and that inclusion was not sequential. Bearing this in mind, there is a high probability of bias toward the inclusion of better-studied patients and a higher participation of centers with better overall performance in cardiomyopathies. This means that in real-world practice the rates of Fabry disease exclusion in these patients are probably even lower than reported here.</p><p id="par0020" class="elsevierStylePara elsevierViewall">Portugal has some of the largest series of Fabry disease patients in Europe, and these numbers are mainly due to the systematic diagnostic workup performed in reference centers for lysosomal storage diseases.<a class="elsevierStyleCrossRefs" href="#bib0045"><span class="elsevierStyleSup">3–6</span></a> Although some geographic distribution patterns are clearly discernible, as can be expected from an X-linked genetic disease, it is essential to maintain general awareness of this disease, for which specific therapies are available that can modify prognosis. Since cardiac involvement is frequent and is sometimes the primary or sole manifestation of Fabry disease, all cardiologists should be constantly on the alert for the possibility of Fabry disease in the study of unexplained left ventricular hypertrophy. Early diagnosis and, if appropriate, initiation of enzyme replacement therapy can change the course of this disease and may improve both symptoms and prognosis. Furthermore, identification of an index case can help identify relatives affected by disease, who may also benefit from diagnostic workup, structured follow-up and early initiation of therapy, if indicated.</p><p id="par0025" class="elsevierStylePara elsevierViewall">In an era of advanced imaging and readily available genetic testing, efforts should be made to ensure that red flags for Fabry disease in patients with left ventricular hypertrophy are identified and to encourage the use of dedicated tools for its exclusion. This paper has a clear message for all cardiologists: Fabry disease is something that must always be borne in mind in the study of patients with unexplained left ventricular hypertrophy.</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Conflicts of interest</span><p id="par0030" 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:6 [ 0 => array:3 [ "identificador" => "bib0035" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Awareness of Fabry disease in cardiology: a gap to be filled" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:3 [ 0 => "D. 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Lopes" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1016/j.repc.2017.08.005" "Revista" => array:6 [ "tituloSerie" => "Rev Port Cardiol" "fecha" => "2018" "volumen" => "37" "paginaInicial" => "1" "paginaFinal" => "10" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/29358015" "web" => "Medline" ] ] ] ] ] ] ] ] 2 => array:3 [ "identificador" => "bib0045" "etiqueta" => "3" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Biomarkers of myocardial fibrosis: revealing the natural history of fibrogenesis in Fabry disease cardiomyopathy" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:3 [ 0 => "P. Aguiar" 1 => "O. Azevedo" 2 => "R. 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Ano/Mês | Html | Total | |
---|---|---|---|
2024 Novembro | 7 | 7 | 14 |
2024 Outubro | 27 | 24 | 51 |
2024 Setembro | 42 | 26 | 68 |
2024 Agosto | 41 | 22 | 63 |
2024 Julho | 39 | 29 | 68 |
2024 Junho | 25 | 18 | 43 |
2024 Maio | 36 | 15 | 51 |
2024 Abril | 33 | 26 | 59 |
2024 Maro | 52 | 16 | 68 |
2024 Fevereiro | 40 | 24 | 64 |
2024 Janeiro | 20 | 28 | 48 |
2023 Dezembro | 19 | 26 | 45 |
2023 Novembro | 43 | 28 | 71 |
2023 Outubro | 31 | 25 | 56 |
2023 Setembro | 28 | 21 | 49 |
2023 Agosto | 28 | 25 | 53 |
2023 Julho | 20 | 25 | 45 |
2023 Junho | 29 | 17 | 46 |
2023 Maio | 39 | 24 | 63 |
2023 Abril | 24 | 7 | 31 |
2023 Maro | 21 | 27 | 48 |
2023 Fevereiro | 29 | 23 | 52 |
2023 Janeiro | 20 | 17 | 37 |
2022 Dezembro | 24 | 22 | 46 |
2022 Novembro | 38 | 33 | 71 |
2022 Outubro | 33 | 17 | 50 |
2022 Setembro | 36 | 47 | 83 |
2022 Agosto | 36 | 32 | 68 |
2022 Julho | 35 | 39 | 74 |
2022 Junho | 29 | 21 | 50 |
2022 Maio | 25 | 41 | 66 |
2022 Abril | 29 | 40 | 69 |
2022 Maro | 24 | 46 | 70 |
2022 Fevereiro | 28 | 29 | 57 |
2022 Janeiro | 33 | 19 | 52 |
2021 Dezembro | 22 | 29 | 51 |
2021 Novembro | 26 | 30 | 56 |
2021 Outubro | 30 | 48 | 78 |
2021 Setembro | 26 | 24 | 50 |
2021 Agosto | 33 | 31 | 64 |
2021 Julho | 25 | 28 | 53 |
2021 Junho | 24 | 33 | 57 |
2021 Maio | 27 | 32 | 59 |
2021 Abril | 40 | 63 | 103 |
2021 Maro | 70 | 17 | 87 |
2021 Fevereiro | 54 | 20 | 74 |
2021 Janeiro | 33 | 9 | 42 |
2020 Dezembro | 34 | 19 | 53 |
2020 Novembro | 38 | 25 | 63 |
2020 Outubro | 17 | 14 | 31 |
2020 Setembro | 54 | 9 | 63 |
2020 Agosto | 15 | 9 | 24 |
2020 Julho | 36 | 16 | 52 |
2020 Junho | 32 | 11 | 43 |
2020 Maio | 33 | 9 | 42 |
2020 Abril | 36 | 6 | 42 |
2020 Maro | 42 | 12 | 54 |
2020 Fevereiro | 50 | 71 | 121 |
2020 Janeiro | 26 | 10 | 36 |
2019 Dezembro | 35 | 6 | 41 |
2019 Novembro | 23 | 15 | 38 |
2019 Outubro | 26 | 12 | 38 |
2019 Setembro | 26 | 11 | 37 |
2019 Agosto | 27 | 9 | 36 |
2019 Julho | 41 | 12 | 53 |
2019 Junho | 30 | 15 | 45 |
2019 Maio | 33 | 14 | 47 |
2019 Abril | 25 | 13 | 38 |
2019 Maro | 77 | 20 | 97 |
2019 Fevereiro | 84 | 12 | 96 |
2019 Janeiro | 51 | 6 | 57 |
2018 Dezembro | 53 | 10 | 63 |
2018 Novembro | 78 | 11 | 89 |
2018 Outubro | 75 | 23 | 98 |
2018 Setembro | 42 | 17 | 59 |
2018 Agosto | 28 | 21 | 49 |
2018 Julho | 107 | 24 | 131 |
2018 Junho | 71 | 52 | 123 |
2018 Maio | 0 | 4 | 4 |