was read the article
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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" => "S0870255117307941" "doi" => "10.1016/j.repc.2018.03.010" "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/S0870255117307941?idApp=UINPBA00004E" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2174204918301995?idApp=UINPBA00004E" "url" => "/21742049/0000003700000006/v3_201807150625/S2174204918301995/v3_201807150625/en/main.assets" ] "asociados" => array:1 [ 0 => array:20 [ "pii" => "S2174204918301995" "issn" => "21742049" "doi" => "10.1016/j.repce.2018.03.015" "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" => 1351 "formatos" => array:3 [ "EPUB" => 133 "HTML" => 939 "PDF" => 279 ] ] "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" => "S0870255117307941" "doi" => "10.1016/j.repc.2018.03.010" "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/S0870255117307941?idApp=UINPBA00004E" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2174204918301995?idApp=UINPBA00004E" "url" => "/21742049/0000003700000006/v3_201807150625/S2174204918301995/v3_201807150625/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. Brito" 1 => "N. Cardim" 2 => "L.R. Lopes" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1016/j.repc.2018.03.010" "Revista" => array:6 [ "tituloSerie" => "Rev Port Cardiol" "fecha" => "2018" "volumen" => "37" "paginaInicial" => "457" "paginaFinal" => "466" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/29801713" "web" => "Medline" ] ] ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib0040" "etiqueta" => "2" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "The Portuguese Registry of Hypertrophic Cardiomyopathy: overall results" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:3 [ 0 => "N. Cardim" 1 => "D. Brito" 2 => "L.R. 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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Year/Month | Html | Total | |
---|---|---|---|
2024 November | 6 | 6 | 12 |
2024 October | 32 | 34 | 66 |
2024 September | 41 | 25 | 66 |
2024 August | 40 | 29 | 69 |
2024 July | 36 | 29 | 65 |
2024 June | 26 | 19 | 45 |
2024 May | 36 | 23 | 59 |
2024 April | 26 | 23 | 49 |
2024 March | 34 | 27 | 61 |
2024 February | 24 | 29 | 53 |
2024 January | 24 | 28 | 52 |
2023 December | 21 | 26 | 47 |
2023 November | 25 | 20 | 45 |
2023 October | 18 | 13 | 31 |
2023 September | 17 | 20 | 37 |
2023 August | 30 | 17 | 47 |
2023 July | 23 | 12 | 35 |
2023 June | 22 | 8 | 30 |
2023 May | 43 | 29 | 72 |
2023 April | 40 | 10 | 50 |
2023 March | 30 | 17 | 47 |
2023 February | 38 | 23 | 61 |
2023 January | 31 | 24 | 55 |
2022 December | 36 | 22 | 58 |
2022 November | 44 | 35 | 79 |
2022 October | 44 | 20 | 64 |
2022 September | 42 | 29 | 71 |
2022 August | 38 | 29 | 67 |
2022 July | 48 | 40 | 88 |
2022 June | 23 | 32 | 55 |
2022 May | 16 | 29 | 45 |
2022 April | 33 | 36 | 69 |
2022 March | 31 | 42 | 73 |
2022 February | 23 | 30 | 53 |
2022 January | 19 | 22 | 41 |
2021 December | 18 | 32 | 50 |
2021 November | 22 | 34 | 56 |
2021 October | 28 | 39 | 67 |
2021 September | 15 | 27 | 42 |
2021 August | 25 | 26 | 51 |
2021 July | 16 | 25 | 41 |
2021 June | 16 | 14 | 30 |
2021 May | 33 | 50 | 83 |
2021 April | 36 | 17 | 53 |
2021 March | 57 | 18 | 75 |
2021 February | 53 | 19 | 72 |
2021 January | 34 | 12 | 46 |
2020 December | 29 | 13 | 42 |
2020 November | 28 | 13 | 41 |
2020 October | 14 | 21 | 35 |
2020 September | 45 | 16 | 61 |
2020 August | 14 | 8 | 22 |
2020 July | 37 | 16 | 53 |
2020 June | 40 | 13 | 53 |
2020 May | 28 | 6 | 34 |
2020 April | 25 | 4 | 29 |
2020 March | 35 | 9 | 44 |
2020 February | 28 | 11 | 39 |
2020 January | 29 | 4 | 33 |
2019 December | 21 | 3 | 24 |
2019 November | 25 | 12 | 37 |
2019 October | 23 | 9 | 32 |
2019 September | 14 | 11 | 25 |
2019 August | 26 | 3 | 29 |
2019 July | 31 | 6 | 37 |
2019 June | 22 | 15 | 37 |
2019 May | 38 | 14 | 52 |
2019 April | 20 | 16 | 36 |
2019 March | 18 | 10 | 28 |
2019 February | 24 | 7 | 31 |
2019 January | 18 | 5 | 23 |
2018 December | 18 | 11 | 29 |
2018 November | 34 | 11 | 45 |
2018 October | 33 | 12 | 45 |
2018 September | 25 | 18 | 43 |
2018 August | 27 | 21 | 48 |
2018 July | 54 | 17 | 71 |
2018 June | 23 | 12 | 35 |