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    "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">In this issue of the <span class="elsevierStyleItalic">Journal</span>&#44; Brito et al&#46; 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&#46;<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&#44; concerning the exclusion of Anderson-Fabry disease in the differential diagnosis&#44; the authors concluded that this entity is seldom studied in the workup of patients with unexplained left ventricular hypertrophy&#46; According to their data&#44; Fabry disease was recorded as excluded in only 27&#37; of the patients included in the registry&#46; Alpha-galactosidase A &#40;&#945;-Gal A&#41; activity was assessed in 18&#37; and <span class="elsevierStyleItalic">GLA</span> gene testing was only performed in 23&#37; of cases&#46; Among patients with potential red flags for Fabry disease &#40;including concentric left ventricular hypertrophy&#44; short or prolonged PR interval&#44; intraventricular conduction disturbances or bradyarrhythmias requiring pacemaker implantation&#41;&#44; fewer than half &#40;47&#37;&#41; underwent specific tests &#40;<span class="elsevierStyleItalic">GLA</span> gene testing and&#47;or &#945;-Gal A activity&#41;&#46;</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&#44; which is totally voluntary&#44; and that inclusion was not sequential&#46; Bearing this in mind&#44; 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&#46; This means that in real-world practice the rates of Fabry disease exclusion in these patients are probably even lower than reported here&#46;</p><p id="par0020" class="elsevierStylePara elsevierViewall">Portugal has some of the largest series of Fabry disease patients in Europe&#44; and these numbers are mainly due to the systematic diagnostic workup performed in reference centers for lysosomal storage diseases&#46;<a class="elsevierStyleCrossRefs" href="#bib0045"><span class="elsevierStyleSup">3&#8211;6</span></a> Although some geographic distribution patterns are clearly discernible&#44; as can be expected from an X-linked genetic disease&#44; it is essential to maintain general awareness of this disease&#44; for which specific therapies are available that can modify prognosis&#46; Since cardiac involvement is frequent and is sometimes the primary or sole manifestation of Fabry disease&#44; all cardiologists should be constantly on the alert for the possibility of Fabry disease in the study of unexplained left ventricular hypertrophy&#46; Early diagnosis and&#44; if appropriate&#44; initiation of enzyme replacement therapy can change the course of this disease and may improve both symptoms and prognosis&#46; Furthermore&#44; identification of an index case can help identify relatives affected by disease&#44; who may also benefit from diagnostic workup&#44; structured follow-up and early initiation of therapy&#44; if indicated&#46;</p><p id="par0025" class="elsevierStylePara elsevierViewall">In an era of advanced imaging and readily available genetic testing&#44; 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&#46; This paper has a clear message for all cardiologists&#58; Fabry disease is something that must always be borne in mind in the study of patients with unexplained left ventricular hypertrophy&#46;</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&#46;</p></span></span>"
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Editorial comment
Fabry disease: Something cardiologists must always bear in mind
Doença de Fabry – um lembrete obrigatório para os cardiologistas!
Nuno Bettencourt
Unidade de Investigação Cardiovascular, Faculdade de Medicina da Universidade do Porto, Porto, Portugal
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    "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">In this issue of the <span class="elsevierStyleItalic">Journal</span>&#44; Brito et al&#46; 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&#46;<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&#44; concerning the exclusion of Anderson-Fabry disease in the differential diagnosis&#44; the authors concluded that this entity is seldom studied in the workup of patients with unexplained left ventricular hypertrophy&#46; According to their data&#44; Fabry disease was recorded as excluded in only 27&#37; of the patients included in the registry&#46; Alpha-galactosidase A &#40;&#945;-Gal A&#41; activity was assessed in 18&#37; and <span class="elsevierStyleItalic">GLA</span> gene testing was only performed in 23&#37; of cases&#46; Among patients with potential red flags for Fabry disease &#40;including concentric left ventricular hypertrophy&#44; short or prolonged PR interval&#44; intraventricular conduction disturbances or bradyarrhythmias requiring pacemaker implantation&#41;&#44; fewer than half &#40;47&#37;&#41; underwent specific tests &#40;<span class="elsevierStyleItalic">GLA</span> gene testing and&#47;or &#945;-Gal A activity&#41;&#46;</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&#44; which is totally voluntary&#44; and that inclusion was not sequential&#46; Bearing this in mind&#44; 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&#46; This means that in real-world practice the rates of Fabry disease exclusion in these patients are probably even lower than reported here&#46;</p><p id="par0020" class="elsevierStylePara elsevierViewall">Portugal has some of the largest series of Fabry disease patients in Europe&#44; and these numbers are mainly due to the systematic diagnostic workup performed in reference centers for lysosomal storage diseases&#46;<a class="elsevierStyleCrossRefs" href="#bib0045"><span class="elsevierStyleSup">3&#8211;6</span></a> Although some geographic distribution patterns are clearly discernible&#44; as can be expected from an X-linked genetic disease&#44; it is essential to maintain general awareness of this disease&#44; for which specific therapies are available that can modify prognosis&#46; Since cardiac involvement is frequent and is sometimes the primary or sole manifestation of Fabry disease&#44; all cardiologists should be constantly on the alert for the possibility of Fabry disease in the study of unexplained left ventricular hypertrophy&#46; Early diagnosis and&#44; if appropriate&#44; initiation of enzyme replacement therapy can change the course of this disease and may improve both symptoms and prognosis&#46; Furthermore&#44; identification of an index case can help identify relatives affected by disease&#44; who may also benefit from diagnostic workup&#44; structured follow-up and early initiation of therapy&#44; if indicated&#46;</p><p id="par0025" class="elsevierStylePara elsevierViewall">In an era of advanced imaging and readily available genetic testing&#44; 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&#46; This paper has a clear message for all cardiologists&#58; Fabry disease is something that must always be borne in mind in the study of patients with unexplained left ventricular hypertrophy&#46;</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&#46;</p></span></span>"
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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
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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
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Revista Portuguesa de Cardiologia
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