Case report
Histopathological evidence of Fabry disease in a female patient with left ventricular noncompaction
Evidência histopatológica de doença de Fabry numa doente com não compactação do ventrículo esquerdo
Elisabete Martinsa,
, Teresa Pinhob, Stirling Carpenterc, Sérgio Leiteb, Raquel Garciab, António Madureirad, João Paulo Oliveirae
Corresponding author
a Medical School of Porto, Department of Medicine, São João University Hospital, Porto, Portugal
b Cardiology Department, São João University Hospital, Porto, Portugal
c Pathology Department, São João University Hospital, Porto, Portugal
d Radiology Department, São João University Hospital, Porto, Portugal
e Medical School of Porto, Genetics Department, São João University Hospital, Porto, Portugal
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Paulo" "apellidos" => "Oliveira" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">e</span>" "identificador" => "aff0020" ] ] ] ] "afiliaciones" => array:5 [ 0 => array:3 [ "entidad" => "Medical School of Porto, Department of Medicine, São João University Hospital, Porto, Portugal" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Cardiology Department, São João University Hospital, Porto, Portugal" "etiqueta" => "b" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Pathology Department, São João University Hospital, Porto, Portugal" "etiqueta" => "c" "identificador" => "aff0015" ] 3 => array:3 [ "entidad" => "Radiology Department, São João University Hospital, Porto, Portugal" "etiqueta" => "d" "identificador" => "aff0025" ] 4 => array:3 [ "entidad" => "Medical School of Porto, Genetics Department, São João University Hospital, Porto, Portugal" "etiqueta" => "e" "identificador" => "aff0020" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "pt" => array:1 [ "titulo" => "Evidência histopatológica de doença de Fabry numa doente com não compactação do ventrículo esquerdo" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0025" "etiqueta" => "Figure 5" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr5.jpeg" "Alto" => 796 "Ancho" => 996 "Tamanyo" => 178361 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0045" class="elsevierStyleSimplePara elsevierViewall">In this microscopic field from a semithin section of glutaraldehyde-fixed, epoxy resin-embedded tissue stained with toluidine blue, the majority of cardiac muscle fibers contain dark granular accumulations in their center.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Introduction</span><p id="par0005" class="elsevierStylePara elsevierViewall">Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the alpha-galactosidase gene (<span class="elsevierStyleItalic">GLA</span>). Partial or complete deficiency of alpha-galactosidase enzyme activity leads to progressive intracellular accumulation of neutral glycosphingolipids containing terminal alpha-D-galactosyl residues, especially of globotriaosylceramide (Gb3), in many different cell types and tissues.<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1–3</span></a> The multisystemic manifestations of the classical phenotype of Fabry disease, which is typically observed in males with absent or extremely low alpha-galactosidase activity,<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> include acroparesthesias and other neuropathic symptoms, angiokeratomas, hypohidrosis, gastrointestinal problems and cornea verticillata, usually beginning in childhood or adolescence, and later-onset major kidney, cardiac and cerebrovascular complications.<a class="elsevierStyleCrossRefs" href="#bib0010"><span class="elsevierStyleSup">2–4</span></a> Deacylated globotriaosylceramide, globotriaosylsphingosine (lysoGb3) may be an important pathogenic mediator involved in the onset and progression of some of the clinical and pathological manifestations of Fabry disease.<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">Accumulation of Gb3 may occur in all the cellular components of the heart,<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> causing a variety of clinical manifestations, including left ventricular hypertrophy (LVH), valvular disease (especially mitral regurgitation), myocardial ischemia, and arrhythmias.<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> The most frequent cardiac presentation of Fabry disease is a cardiomyopathy characterized by progressive, usually concentric, LVH and replacement fibrosis with preferential localization in the basal posterolateral left ventricular (LV) wall segments.<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a> Heart disease in affected females tends to be clinically recognized later than in males, usually after the fourth decade of life.<a class="elsevierStyleCrossRefs" href="#bib0020"><span class="elsevierStyleSup">4,7,8</span></a> Cardiac complications are the most frequently reported cause of death in females with Fabry disease.<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a></p><p id="par0015" class="elsevierStylePara elsevierViewall">Abnormalities of tissue Doppler mitral annulus velocities can be observed in patients with normal thickness of the cardiac wall, representing an early sign of myocardial damage.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">9</span></a></p><p id="par0020" class="elsevierStylePara elsevierViewall">Other echocardiographic findings have been associated with Fabry disease, although none is pathognomonic. The appearance of a binary endocardial appearance,<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">10</span></a> prominent papillary muscles or right ventricular involvement may also be encountered in ventricular hypertrophy secondary to other etiologies.<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">11,12</span></a> There are fewer data regarding the association between LV noncompaction (LVNC) and Fabry disease.</p><p id="par0025" class="elsevierStylePara elsevierViewall">We report a diagnosis of LVNC by cardiac magnetic resonance imaging (CMRI) in a young woman with histologically confirmed Fabry disease cardiomyopathy.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Case report</span><p id="par0030" class="elsevierStylePara elsevierViewall">A 30-year-old woman, heterozygous for a nonsense <span class="elsevierStyleItalic">GLA</span> mutation (p.R220X) associated with the classical phenotype of Fabry disease, was referred to the cardiology clinic for routine screening of cardiovascular manifestations of the disease. The assay of alpha-galactosidase in leukocytes had revealed a mild deficiency of enzymatic activity (25 nmol/h/mg; normal range: 36-80), as typically observed in heterozygotes.</p><p id="par0035" class="elsevierStylePara elsevierViewall">The patient was asymptomatic and did not manifest any other typical signs of the disease except for cornea verticillata on slit lamp ophthalmological examination, and two small angiokeratomas, on the face and in the right inframammary region. Her blood pressure, chest examination and heart and lung auscultation were normal.</p><p id="par0040" class="elsevierStylePara elsevierViewall">Renal function was normal, with plasma creatinine level of 0.65 mg/dl and urinary albumin/creatinine ratio of 4.8 mg/g. Plasma lysoGb concentration was 7.45 nmol (normal range: 0-2.2), and the urinary excretion of Gb3 and lysoGb3 were, respectively, 36 μg/mmol of creatinine (normal range: 0-25) and 67 pmol/mmol of creatinine (normal range: undetectable).</p><p id="par0045" class="elsevierStylePara elsevierViewall">The ECG revealed sinus bradycardia, without criteria of LVH or a short PR interval (<a class="elsevierStyleCrossRef" href="#fig0005">Figure 1</a>). The 24-hour Holter study revealed no rhythm abnormalities. The echocardiogram showed normal-sized chambers and normal basal and mid LV wall thickness. Systolic and diastolic functional parameters were within normal limits, including systolic (Sa), early diastolic (Ea), and late diastolic (Aa) tissue Doppler velocities at the mitral valve annulus. The 4-chamber apical view suggested the presence of hypertrabeculation of the apical segments of the LV, but without clear criteria of noncompaction due to insufficient acoustic window quality. For this reason CMRI was performed.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0050" class="elsevierStylePara elsevierViewall">The CMRI revealed marked trabeculation in the apical segments of the LV with a diastolic ratio of noncompacted/compacted layers of 2.6, fulfilling CMRI criteria for noncompaction (<a class="elsevierStyleCrossRefs" href="#fig0010">Figures 2–4</a>). LV mass was within normal limits and no delayed enhancement suggestive of fibrosis was detected after gadolinium administration.</p><elsevierMultimedia ident="fig0010"></elsevierMultimedia><elsevierMultimedia ident="fig0015"></elsevierMultimedia><elsevierMultimedia ident="fig0020"></elsevierMultimedia><p id="par0055" class="elsevierStylePara elsevierViewall">To further investigate the relationship between this morphological finding and Fabry cardiomyopathy in a female with Fabry disease and no other evidence of cardiac involvement, a transjugular endomyocardial biopsy was obtained. Histopathological examination of myocardial fragments from the right ventricle showed marked deposition of glycosphingolipids in cardiomyocytes, sparing the endothelial cells (<a class="elsevierStyleCrossRefs" href="#fig0025">Figures 5 and 6</a>). Based on this finding, the patient was proposed for enzyme replacement therapy.</p><elsevierMultimedia ident="fig0025"></elsevierMultimedia><elsevierMultimedia ident="fig0030"></elsevierMultimedia></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Discussion</span><p id="par0060" class="elsevierStylePara elsevierViewall">LVNC is a focal myocardial disorder characterized by a two-layered structure in which a noncompacted layer with numerous prominent trabeculations and deep intertrabecular recesses overlaps a thinner compacted epicardial layer.<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">13</span></a> This morphological abnormality has been attributed to an embryonic arrest of the myocardial morphogenesis process, possibly due to abnormal regulation of cardiomyocyte polarization and myofibrillogenesis,<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">14</span></a> but “late-onset” variants and even “reverse remodeling” of the ventricular noncompaction pattern have also been described, supporting the hypothesis that it could also just be a morphological variant of other cardiomyopathies.<a class="elsevierStyleCrossRefs" href="#bib0075"><span class="elsevierStyleSup">15–17</span></a> Given the considerable controversy surrounding its pathogenesis, diagnosis and management, the European Working Group of Myocardial Diseases considers LVNC as an unclassified form of cardiomyopathy.<a class="elsevierStyleCrossRef" href="#bib0090"><span class="elsevierStyleSup">18</span></a></p><p id="par0065" class="elsevierStylePara elsevierViewall">The genetic basis is heterogeneous and isolated LVNC has been described in association with various hereditary disorders, mostly due to cardiac sarcomeric protein mutations,<a class="elsevierStyleCrossRef" href="#bib0095"><span class="elsevierStyleSup">19</span></a> but also in some myopathies and metabolic diseases.<a class="elsevierStyleCrossRefs" href="#bib0070"><span class="elsevierStyleSup">14,20–22</span></a> Reports of an association between Fabry disease and LVNC are scarce. Azevedo et al. recently described the finding of an LVNC pattern in a 32-year-old woman,<a class="elsevierStyleCrossRef" href="#bib0115"><span class="elsevierStyleSup">23</span></a> heterozygous for the <span class="elsevierStyleItalic">GLA</span> mutation p.F113L, which was originally reported in association with a late-onset cardiac phenotype, with preservation of some residual enzyme activity.<a class="elsevierStyleCrossRef" href="#bib0120"><span class="elsevierStyleSup">24</span></a> However, as these authors provided no other evidence of Fabry cardiomyopathy in their case, their suggestion that LVNC might be a rare cardiac manifestation of Fabry disease was based solely on the improbability of the patient having two rare, unrelated cardiac diseases.<a class="elsevierStyleCrossRef" href="#bib0115"><span class="elsevierStyleSup">23</span></a> It is noteworthy that Stöllberger et al. had emphasized the importance of endomyocardial biopsy to conclusively establish an association of Fabry disease with LV hypertrabeculation/noncompaction.<a class="elsevierStyleCrossRef" href="#bib0125"><span class="elsevierStyleSup">25</span></a></p><p id="par0070" class="elsevierStylePara elsevierViewall">Unlike the referenced case the diagnosis of Fabry cardiomyopathy in our patient was unequivocally demonstrated by histopathological criteria. However, due to the patchy cardiac involvement expected from random X-chromosome inactivation in females heterozygous for X-linked diseases,<a class="elsevierStyleCrossRef" href="#bib0130"><span class="elsevierStyleSup">26</span></a> it is not possible to conclude definitely that the noncompaction pattern arose in an alpha-galactosidase deficient region of the LV myocardium.</p><p id="par0075" class="elsevierStylePara elsevierViewall">In patients with Fabry disease, irrespective of their gender, contraction and relaxation tissue Doppler mitral annulus velocities are inversely related to LV mass, but may be already significantly reduced prior to development of LVH,<a class="elsevierStyleCrossRef" href="#bib0135"><span class="elsevierStyleSup">27</span></a> constituting an early marker of disease progression.<a class="elsevierStyleCrossRef" href="#bib0140"><span class="elsevierStyleSup">28</span></a> The normal tissue Doppler parameters in our patient strongly suggest that Fabry cardiomyopathy was diagnosed at an early stage, still without significant disturbance of myocardial performance. Common to our patient and to the patient previously reported is the diagnosis of LVNC in young adult females with Fabry disease, at an early stage in the natural history of Fabry cardiomyopathy. As LVNC is a very unusual finding in Fabry disease,<a class="elsevierStyleCrossRef" href="#bib0125"><span class="elsevierStyleSup">25</span></a> the remarkable similarities between the two cases are unlikely to be merely fortuitous.</p><p id="par0080" class="elsevierStylePara elsevierViewall">The plasma of patients with Fabry disease contains a substance – possibly lysoGb3<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> – that stimulates proliferation of cardiomyocytes in vitro.<a class="elsevierStyleCrossRef" href="#bib0145"><span class="elsevierStyleSup">29</span></a> In addition, studies in isolated cardiomyocytes of patients with Fabry disease have shown that Gb3 accumulation leads to degradation of myofilament proteins and to a dysfunctional state characterized by abnormally high resting tension and abnormally low active tension.<a class="elsevierStyleCrossRef" href="#bib0150"><span class="elsevierStyleSup">30</span></a></p><p id="par0085" class="elsevierStylePara elsevierViewall">On the other hand, a number of molecular mechanisms have been described in animal models that might contribute to the development of myocardial hypertrabeculation/noncompaction.<a class="elsevierStyleCrossRefs" href="#bib0070"><span class="elsevierStyleSup">14,31</span></a> Among these, the development of noncompaction without an increase in cell proliferative activity in trabecular LV myocardium, and the role of impaired myofibrillogenesis in the pathogenesis of noncompacted myocardium, may be particularly helpful in understanding the development of LVNC in adult patients with Fabry disease.</p><p id="par0090" class="elsevierStylePara elsevierViewall">Taking into consideration (i) the foregoing human and animal experimental data, (ii) the rarity of LVNC in patients with Fabry disease, and (iii) the appearance, disappearance or changing morphological pattern of LVNC that have been described in several cases,<a class="elsevierStyleCrossRef" href="#bib0160"><span class="elsevierStyleSup">32</span></a> it can be hypothesised that Fabry disease is a risk factor for myocardial noncompaction (possibly related to myofibrillolysis in cardiomyocytes) that would fully manifest only in patients carrying additional genetic or other risk factors for its development. Furthermore, expression of LVNC in Fabry disease might occur transiently and at an early stage in the natural history of Fabry cardiomyopathy. Long-term follow-up of affected patients will help to elucidate these issues.</p><p id="par0095" class="elsevierStylePara elsevierViewall">As conclusions, our case illustrates the important role of endomyocardial biopsy in the clarification of doubtful or atypical findings related to cardiac Fabry disease, even in heterozygous women, and corroborates the contention that Fabry disease should be included in the differential diagnosis of LV hypertrabeculation/noncompaction.</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Ethical disclosures</span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0045">Protection of human and animal subjects</span><p id="par0100" class="elsevierStylePara elsevierViewall">The authors declare that no experiments were performed on humans or animals for this study.</p></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0050">Confidentiality of data</span><p id="par0105" class="elsevierStylePara elsevierViewall">The authors declare that they have followed the protocols of their work center on the publication of patient data.</p></span><span id="sec0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0055">Right to privacy and informed consent</span><p id="par0110" class="elsevierStylePara elsevierViewall">The authors have obtained the written informed consent of the patients or subjects mentioned in the article. The corresponding author is in possession of this document.</p></span></span><span id="sec0040" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0060">Conflicts of interest</span><p id="par0115" class="elsevierStylePara elsevierViewall">The authors have no conflicts of interest to declare.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:10 [ 0 => array:2 [ "identificador" => "xres373987" "titulo" => "Abstract" ] 1 => array:2 [ "identificador" => "xpalclavsec353036" "titulo" => "Keywords" ] 2 => array:2 [ "identificador" => "xres373988" "titulo" => "Resumo" ] 3 => array:2 [ "identificador" => "xpalclavsec353035" "titulo" => "Palavras-chave" ] 4 => array:2 [ "identificador" => "sec0005" "titulo" => "Introduction" ] 5 => array:2 [ "identificador" => "sec0010" "titulo" => "Case report" ] 6 => array:2 [ "identificador" => "sec0015" "titulo" => "Discussion" ] 7 => array:3 [ "identificador" => "sec0020" "titulo" => "Ethical disclosures" "secciones" => array:3 [ 0 => array:2 [ "identificador" => "sec0025" "titulo" => "Protection of human and animal subjects" ] 1 => array:2 [ "identificador" => "sec0030" "titulo" => "Confidentiality of data" ] 2 => array:2 [ "identificador" => "sec0035" "titulo" => "Right to privacy and informed consent" ] ] ] 8 => array:2 [ "identificador" => "sec0040" "titulo" => "Conflicts of interest" ] 9 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2014-02-13" "fechaAceptado" => "2014-08-14" "PalabrasClave" => array:2 [ "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Keywords" "identificador" => "xpalclavsec353036" "palabras" => array:3 [ 0 => "Fabry disease" 1 => "Hypertrabeculation/noncompaction" 2 => "Endomyocardial biopsy" ] ] ] "pt" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palavras-chave" "identificador" => "xpalclavsec353035" "palabras" => array:3 [ 0 => "Doença de Fabry" 1 => "Hipertrabeculação/não compactação" 2 => "Biópsia endomiocárdica" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "en" => array:2 [ "titulo" => "Abstract" "resumen" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the alpha-galactosidase gene. The most frequent cardiac presentation of Fabry disease is cardiomyopathy characterized by left ventricular (LV) hypertrophy, usually concentric.</p><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Heart disease in affected females tends to be clinically recognized later than in males and cardiac complications are the most frequently reported cause of death in females with Fabry disease. There are few data regarding the association between Fabry disease and LV noncompaction. We report a case of a 30-year-old asymptomatic woman, heterozygous for a nonsense alpha-galactosidase gene mutation (p.R220X), who presented LV noncompaction on cardiac magnetic resonance imaging, without LV wall hypertrophy. Histopathological examination of myocardial fragments showed marked deposition of glycosphingolipids in cardiomyocytes, confirming the diagnosis of Fabry cardiomyopathy. Based on this finding, the patient was proposed for enzyme replacement therapy. This case illustrates the role of endomyocardial biopsy in the clarification of doubtful or atypical findings related to cardiac Fabry disease, even in heterozygous women, and corroborates the contention that Fabry disease should be included in the differential diagnosis of LV hypertrabeculation/noncompaction.</p>" ] "pt" => array:2 [ "titulo" => "Resumo" "resumen" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">A doença de Fabry é uma doença rara de armazenamento lisossómico, ligada ao cromossoma X, causada por mutações no gene da α – galactosidase. A apresentação cardíaca mais frequente é uma miocardiopatia caracterizada por hipertrofia ventricular esquerda geralmente concêntrica.</p><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">Nas mulheres afetadas a doença cardíaca tende a ser clinicamente reconhecida mais tardiamente do que em homens e as complicações cardíacas são a causa mais frequente de morte reportada em mulheres com doença de Fabry. Existem poucos dados sobre a associação entre a doença de Fabry e a não compactação do ventrículo esquerdo (VE). Reportamos o caso de uma mulher assintomática, com 30 anos de idade, heterozigota para uma mutação nonsense do gene da α–galactosidase gene (p.R220X) que apresentava critérios de VE não compactado na ressonância magnética cardíaca, sem hipertrofia das restantes paredes ventriculares. O exame histopatológico de fragmentos do miocárdio mostrou deposição acentuada de glicoesfingolípidos nos cardiomiócitos, corroborando o diagnóstico de miocardiopatia de Fabry. Com base nestes achados, foi proposto o início de terapia de substituição enzimática. Este caso ilustra o papel da biópsia endomiocárdica no esclarecimento de achados duvidosos ou atípicos relacionados com a doença de Fabry cardíaca, mesmo em mulheres heterozigotas, e corrobora a afirmação de que a doença de Fabry deve ser incluída no diagnóstico diferencial da hipertrabeculação/não compactação do VE.</p>" ] ] "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Martins E, Pinho T, Carpenter S, Leite S, Garcia R, Madureira A, et al. Evidência histopatológica de doença de Fabry numa doente com não compactação do ventrículo esquerdo 2014. Rev Port Cardiol. 2014;33:565.</p>" ] ] "multimedia" => array:6 [ 0 => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1375 "Ancho" => 2674 "Tamanyo" => 761415 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">Resting ECG showing sinus bradycardia.</p>" ] ] 1 => array:7 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 1287 "Ancho" => 1300 "Tamanyo" => 137001 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">Left ventricular vertical (A) and horizontal (B) long-axis cine steady-state free precession magnetic resonance images at (a) end-diastole and (b) end-systole demonstrating normal ventricular systolic function and hypertrabeculation of left ventricular apical segments.</p>" ] ] 2 => array:7 [ "identificador" => "fig0015" "etiqueta" => "Figure 3" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr3.jpeg" "Alto" => 487 "Ancho" => 1500 "Tamanyo" => 60558 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0035" class="elsevierStyleSimplePara elsevierViewall">Short-axis cine steady-state free precession magnetic resonance images at basal, mid-ventricular and apical levels, confirming apical hypertrabeculation and papillary muscle disarray.</p>" ] ] 3 => array:7 [ "identificador" => "fig0020" "etiqueta" => "Figure 4" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr4.jpeg" "Alto" => 1014 "Ancho" => 1400 "Tamanyo" => 175764 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0040" class="elsevierStyleSimplePara elsevierViewall">(A and B) Cardiac magnetic resonance late gadolinium images revealing no myocardial delayed enhancement.</p>" ] ] 4 => array:7 [ "identificador" => "fig0025" "etiqueta" => "Figure 5" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr5.jpeg" "Alto" => 796 "Ancho" => 996 "Tamanyo" => 178361 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0045" class="elsevierStyleSimplePara elsevierViewall">In this microscopic field from a semithin section of glutaraldehyde-fixed, epoxy resin-embedded tissue stained with toluidine blue, the majority of cardiac muscle fibers contain dark granular accumulations in their center.</p>" ] ] 5 => array:7 [ "identificador" => "fig0030" "etiqueta" => "Figure 6" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr6.jpeg" "Alto" => 646 "Ancho" => 995 "Tamanyo" => 132034 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0050" class="elsevierStyleSimplePara elsevierViewall">On electron microscopy the dark granules are made up of concentric laminae, clearly visible where they run perpendicular to the cut (asterisk).</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:32 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "The molecular defect leading to Fabry disease: structure of human alpha-galactosidase" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "S.C. 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| Year/Month | Html | Total | |
|---|---|---|---|
| 2024 November | 6 | 4 | 10 |
| 2024 October | 43 | 29 | 72 |
| 2024 September | 54 | 25 | 79 |
| 2024 August | 45 | 35 | 80 |
| 2024 July | 31 | 33 | 64 |
| 2024 June | 55 | 31 | 86 |
| 2024 May | 42 | 25 | 67 |
| 2024 April | 33 | 24 | 57 |
| 2024 March | 35 | 20 | 55 |
| 2024 February | 35 | 25 | 60 |
| 2024 January | 28 | 27 | 55 |
| 2023 December | 31 | 19 | 50 |
| 2023 November | 28 | 21 | 49 |
| 2023 October | 31 | 19 | 50 |
| 2023 September | 24 | 20 | 44 |
| 2023 August | 32 | 23 | 55 |
| 2023 July | 24 | 8 | 32 |
| 2023 June | 34 | 13 | 47 |
| 2023 May | 42 | 22 | 64 |
| 2023 April | 39 | 3 | 42 |
| 2023 March | 40 | 21 | 61 |
| 2023 February | 43 | 21 | 64 |
| 2023 January | 26 | 12 | 38 |
| 2022 December | 36 | 23 | 59 |
| 2022 November | 49 | 24 | 73 |
| 2022 October | 29 | 20 | 49 |
| 2022 September | 29 | 30 | 59 |
| 2022 August | 46 | 40 | 86 |
| 2022 July | 34 | 30 | 64 |
| 2022 June | 30 | 23 | 53 |
| 2022 May | 27 | 33 | 60 |
| 2022 April | 30 | 21 | 51 |
| 2022 March | 30 | 30 | 60 |
| 2022 February | 28 | 24 | 52 |
| 2022 January | 25 | 18 | 43 |
| 2021 December | 21 | 29 | 50 |
| 2021 November | 37 | 28 | 65 |
| 2021 October | 44 | 35 | 79 |
| 2021 September | 28 | 37 | 65 |
| 2021 August | 35 | 29 | 64 |
| 2021 July | 20 | 27 | 47 |
| 2021 June | 30 | 19 | 49 |
| 2021 May | 23 | 30 | 53 |
| 2021 April | 40 | 21 | 61 |
| 2021 March | 55 | 19 | 74 |
| 2021 February | 46 | 17 | 63 |
| 2021 January | 35 | 11 | 46 |
| 2020 December | 39 | 9 | 48 |
| 2020 November | 30 | 6 | 36 |
| 2020 October | 21 | 9 | 30 |
| 2020 September | 64 | 8 | 72 |
| 2020 August | 21 | 4 | 25 |
| 2020 July | 55 | 4 | 59 |
| 2020 June | 33 | 4 | 37 |
| 2020 May | 43 | 7 | 50 |
| 2020 April | 40 | 9 | 49 |
| 2020 March | 51 | 9 | 60 |
| 2020 February | 90 | 24 | 114 |
| 2020 January | 35 | 6 | 41 |
| 2019 December | 38 | 8 | 46 |
| 2019 November | 31 | 2 | 33 |
| 2019 October | 40 | 7 | 47 |
| 2019 September | 67 | 10 | 77 |
| 2019 August | 33 | 9 | 42 |
| 2019 July | 36 | 13 | 49 |
| 2019 June | 45 | 15 | 60 |
| 2019 May | 33 | 15 | 48 |
| 2019 April | 29 | 18 | 47 |
| 2019 March | 36 | 13 | 49 |
| 2019 February | 58 | 6 | 64 |
| 2019 January | 37 | 11 | 48 |
| 2018 December | 47 | 11 | 58 |
| 2018 November | 211 | 28 | 239 |
| 2018 October | 612 | 14 | 626 |
| 2018 September | 192 | 10 | 202 |
| 2018 August | 111 | 10 | 121 |
| 2018 July | 34 | 4 | 38 |
| 2018 June | 47 | 10 | 57 |
| 2018 May | 61 | 7 | 68 |
| 2018 April | 47 | 7 | 54 |
| 2018 March | 68 | 7 | 75 |
| 2018 February | 31 | 7 | 38 |
| 2018 January | 31 | 2 | 33 |
| 2017 December | 42 | 7 | 49 |
| 2017 November | 39 | 11 | 50 |
| 2017 October | 33 | 12 | 45 |
| 2017 September | 44 | 12 | 56 |
| 2017 August | 51 | 17 | 68 |
| 2017 July | 30 | 11 | 41 |
| 2017 June | 31 | 9 | 40 |
| 2017 May | 51 | 15 | 66 |
| 2017 April | 40 | 9 | 49 |
| 2017 March | 50 | 11 | 61 |
| 2017 February | 45 | 6 | 51 |
| 2017 January | 34 | 1 | 35 |
| 2016 December | 36 | 8 | 44 |
| 2016 November | 37 | 7 | 44 |
| 2016 October | 44 | 0 | 44 |
| 2016 September | 31 | 6 | 37 |
| 2016 August | 13 | 2 | 15 |
| 2016 July | 25 | 3 | 28 |
| 2016 June | 13 | 1 | 14 |
| 2016 May | 26 | 4 | 30 |
| 2016 April | 23 | 1 | 24 |
| 2016 March | 33 | 1 | 34 |
| 2016 February | 36 | 19 | 55 |
| 2016 January | 37 | 8 | 45 |
| 2015 December | 40 | 6 | 46 |
| 2015 November | 29 | 6 | 35 |
| 2015 October | 41 | 9 | 50 |
| 2015 September | 30 | 8 | 38 |
| 2015 August | 54 | 6 | 60 |
| 2015 July | 36 | 8 | 44 |
| 2015 June | 17 | 3 | 20 |
| 2015 May | 22 | 8 | 30 |
| 2015 April | 22 | 24 | 46 |
| 2015 March | 20 | 10 | 30 |
| 2015 February | 24 | 15 | 39 |
| 2015 January | 18 | 13 | 31 |
| 2014 December | 39 | 19 | 58 |
| 2014 November | 50 | 14 | 64 |
| 2014 October | 49 | 19 | 68 |
Show all
