Letter to the Editor
Noncompaction in Fabry's disease
Não compactação na doença de Fabry
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Squares indicate males, circles indicate females, solid black symbols indicate individuals diagnosed with Fabry disease; symbols with a diagonal line denote deceased individuals. Asterisks indicate a clinical or pedigree-based diagnosis of Fabry disease. Diamonds indicate healthy sibs of different genders, with their number specified by the cardinal inside the symbol. The arrow indicates the patient presented in our paper. Question-marks indicate individuals who have not been clinically or genetically assessed for Fabry disease. The two diagonal vertical lines originating from the same point indicate dizygotic twins. Year of birth is indicated by “b.”; age at death, in full years (“y”), is indicated by “d.”. Patient I-2 was reported to have died from “kidney disease”; patient II-1 was reported to have died from “cerebrovascular disease”, nine years after receiving a kidney transplant; patient II-5 had type 2 diabetes mellitus and died from acute stroke. All the affected males presented with the classical phenotype of Fabry disease. Patient II-3, who is followed at another hospital, started hemodialysis at age 35 and received a kidney transplant about two years later. Patients II-11 and III-9 live abroad and are also followed elsewhere. Patients II-2, II-10 and III-2, who are under our clinical care, started enzyme replacement therapy in 2005, 2002 and 2003, respectively. Neither of the two younger sisters of the proband's mother has yet presented any major cardiac or cerebrovascular complications of Fabry disease. Individuals II-4, II-7, II-8, II-9, III-3/4 and III-7/8 have been genetically screened and did not carry the GLA p.R220X mutation.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Elisabete Martins, João Paulo Oliveira" "autores" => array:2 [ 0 => array:2 [ "nombre" => "Elisabete" "apellidos" => "Martins" ] 1 => array:2 [ "nombre" => "João Paulo" "apellidos" => "Oliveira" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "en" => array:9 [ "pii" => "S0870255115000761" "doi" => "10.1016/j.repc.2015.03.003" "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/S0870255115000761?idApp=UINPBA00004E" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2174204915000926?idApp=UINPBA00004E" "url" => 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array:1 [ 0 => array:2 [ "paginaInicial" => "297" "paginaFinal" => "298" ] ] "titulosAlternativos" => array:1 [ "pt" => array:1 [ "titulo" => "Implantação de CRT-D através de veia cava superior esquerda persistente" ] ] "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" => 849 "Ancho" => 990 "Tamanyo" => 124161 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Chest X-ray immediately after implantation of a cardiac resynchronization therapy defibrillator through a persistent left superior vena cava.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Miguel Nobre Menezes, Ana Bernardes, João de Sousa, Pedro Marques" "autores" => array:4 [ 0 => array:2 [ "nombre" => "Miguel" "apellidos" => "Nobre Menezes" ] 1 => array:2 [ "nombre" => "Ana" "apellidos" => "Bernardes" ] 2 => array:2 [ "nombre" => "João" "apellidos" => "de Sousa" ] 3 => array:2 [ "nombre" => "Pedro" "apellidos" => "Marques" ] ] ] ] ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2174204915000598?idApp=UINPBA00004E" "url" => "/21742049/0000003400000004/v2_201504291249/S2174204915000598/v2_201504291249/en/main.assets" ] "en" => array:13 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Letter to the Editor</span>" "titulo" => "Noncompaction in Fabry's disease" "tieneTextoCompleto" => true "saludo" => "To the Editor," "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "299" "paginaFinal" => "300" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "Josef Finsterer, Sinda Zarrouk-Mahjoub, Sonam Kothari" "autores" => array:3 [ 0 => array:4 [ "nombre" => "Josef" "apellidos" => "Finsterer" "email" => array:1 [ 0 => "fifigs1@yahoo.de" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "Sinda" "apellidos" => "Zarrouk-Mahjoub" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 2 => array:3 [ "nombre" => "Sonam" "apellidos" => "Kothari" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] ] ] ] "afiliaciones" => array:3 [ 0 => array:3 [ "entidad" => "Krankenanstalt Rudolfstiftung, Vienna, Austria" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Genomics Platform, Pasteur Institute of Tunis, Tunisia" "etiqueta" => "b" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "NIMHANS, Bangalore, India" "etiqueta" => "c" "identificador" => "aff0015" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "pt" => array:1 [ "titulo" => "Não compactação na doença de Fabry" ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">We read with interest the article by Martins et al. about the first patient reported with X-linked Fabry's disease associated with left ventricular hypertrabeculation/noncompaction (LVHT).<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">1</span></a> We have the following comments and concerns.</p><p id="par0010" class="elsevierStylePara elsevierViewall">There is a long-term debate about the pathogenesis of LVHT.<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">2</span></a> Most studies indicate that LVHT derives from an early defect of embryonic cardiac development.<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">3</span></a> However, there are individual cases in which LVHT was not present on previous echocardiographic investigations and was thus assessed as ‘acquired LVHT’, unlike the more common congenital variant.<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">4</span></a> Did the patient presented undergo previous echocardiographic or cardiac MRI investigation? Was LVHT present on these previous studies?</p><p id="par0015" class="elsevierStylePara elsevierViewall">LVHT is associated with a large number of mutated genes but a causal relation between LVHT and associated mutations has not been proven. To assess the relationship between the mutation and LVHT it could be helpful to investigate other family members for LVHT and Fabry's disease. Since LVHT occurs in families other family members should be always investigated for LVHT. If other family members present with LVHT and Fabry's disease as well, a causal relation becomes quite likely. A further argument for a causal relation is that Fabry's has been reported in association with hypertrophic cardiomyopathy,<a class="elsevierStyleCrossRef" href="#bib0075"><span class="elsevierStyleSup">5</span></a> both apical<a class="elsevierStyleCrossRef" href="#bib0080"><span class="elsevierStyleSup">6</span></a> and obstructive<a class="elsevierStyleCrossRef" href="#bib0085"><span class="elsevierStyleSup">7</span></a> types. How certain are the authors of a causal relation between the p.R220X mutation in the GLA gene and LVHT in the patient presented?</p><p id="par0020" class="elsevierStylePara elsevierViewall">LVHT is also frequently associated with neuromuscular disorders<a class="elsevierStyleCrossRef" href="#bib0090"><span class="elsevierStyleSup">8</span></a> and Fabry's disease manifests in the muscle as well due to glycosphingolipid accumulation in myocytes and muscular arteries.<a class="elsevierStyleCrossRef" href="#bib0095"><span class="elsevierStyleSup">9</span></a> Was there any evidence of muscle disease in the described patient? Were there clinical indications of muscle disease such as muscle weakness, wasting, cramping, or easy fatigability? Were muscle enzymes elevated? Was the patient seen by a neurologist? Did she undergo electromyography or muscle biopsy? Additionally, Fabry's disease can be associated with small fiber neuropathy.<a class="elsevierStyleCrossRef" href="#bib0100"><span class="elsevierStyleSup">10</span></a> Did the patient report sensory or motor disturbances, or neuropathic pain? Did she have a history of compression neuropathies? Did she undergo nerve conduction studies or nerve biopsy? Did the authors consider a double trouble?</p><p id="par0025" class="elsevierStylePara elsevierViewall">Since LVHT carries a certain risk of cardioembolism due to thrombus formation within the intertrabecular spaces, it would be interesting to know if the patient presented had a previous history of stroke/embolism, or if she ever underwent cerebral MRI to see if there were subclinical embolic events detectable in the brain. Was the family history positive for stroke, syncope, sudden cardiac death, or peripheral embolism?</p><p id="par0030" class="elsevierStylePara elsevierViewall">Overall, the report by Martins et al. could profit from more extensive evaluation of this interesting patient. Family screening is warranted as well as neurological investigation, electromyography, nerve conduction studies, and cerebral MRI. To gain more insight into the pathogenesis of LVHT, we should comprehensively investigate each patient, particularly if LVHT is associated with a novel mutated gene.</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Conflicts of interest</span><p id="par0035" class="elsevierStylePara elsevierViewall">The authors have 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" => "bibs0005" "bibliografiaReferencia" => array:10 [ 0 => array:3 [ "identificador" => "bib0055" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Histopathological evidence of Fabry disease in a female patient with left ventricular noncompaction" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:3 [ 0 => "E. 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Aubry" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1016/j.jacc.2013.07.121" "Revista" => array:5 [ "tituloSerie" => "J Am Coll Cardiol" "fecha" => "2014" "volumen" => "63" "paginaInicial" => "e43" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/24632283" "web" => "Medline" ] ] ] ] ] ] ] ] 7 => array:3 [ "identificador" => "bib0090" "etiqueta" => "8" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Unclassified cardiomyopathies in neuromuscular disorders" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "J. Finsterer" 1 => "C. 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| Year/Month | Html | Total | |
|---|---|---|---|
| 2024 November | 8 | 4 | 12 |
| 2024 October | 52 | 31 | 83 |
| 2024 September | 55 | 25 | 80 |
| 2024 August | 50 | 35 | 85 |
| 2024 July | 31 | 34 | 65 |
| 2024 June | 26 | 11 | 37 |
| 2024 May | 31 | 11 | 42 |
| 2024 April | 26 | 26 | 52 |
| 2024 March | 24 | 16 | 40 |
| 2024 February | 27 | 20 | 47 |
| 2024 January | 15 | 17 | 32 |
| 2023 December | 19 | 29 | 48 |
| 2023 November | 36 | 23 | 59 |
| 2023 October | 18 | 16 | 34 |
| 2023 September | 26 | 21 | 47 |
| 2023 August | 15 | 14 | 29 |
| 2023 July | 16 | 6 | 22 |
| 2023 June | 21 | 13 | 34 |
| 2023 May | 32 | 27 | 59 |
| 2023 April | 13 | 4 | 17 |
| 2023 March | 21 | 20 | 41 |
| 2023 February | 26 | 19 | 45 |
| 2023 January | 21 | 16 | 37 |
| 2022 December | 28 | 26 | 54 |
| 2022 November | 35 | 24 | 59 |
| 2022 October | 35 | 18 | 53 |
| 2022 September | 22 | 32 | 54 |
| 2022 August | 23 | 36 | 59 |
| 2022 July | 23 | 31 | 54 |
| 2022 June | 19 | 25 | 44 |
| 2022 May | 22 | 34 | 56 |
| 2022 April | 19 | 26 | 45 |
| 2022 March | 24 | 34 | 58 |
| 2022 February | 23 | 29 | 52 |
| 2022 January | 24 | 13 | 37 |
| 2021 December | 14 | 22 | 36 |
| 2021 November | 27 | 38 | 65 |
| 2021 October | 19 | 30 | 49 |
| 2021 September | 23 | 22 | 45 |
| 2021 August | 30 | 34 | 64 |
| 2021 July | 25 | 23 | 48 |
| 2021 June | 20 | 24 | 44 |
| 2021 May | 25 | 29 | 54 |
| 2021 April | 49 | 46 | 95 |
| 2021 March | 43 | 21 | 64 |
| 2021 February | 91 | 11 | 102 |
| 2021 January | 33 | 16 | 49 |
| 2020 December | 37 | 10 | 47 |
| 2020 November | 25 | 7 | 32 |
| 2020 October | 14 | 9 | 23 |
| 2020 September | 44 | 10 | 54 |
| 2020 August | 23 | 4 | 27 |
| 2020 July | 32 | 11 | 43 |
| 2020 June | 15 | 6 | 21 |
| 2020 May | 36 | 10 | 46 |
| 2020 April | 23 | 6 | 29 |
| 2020 March | 28 | 8 | 36 |
| 2020 February | 43 | 15 | 58 |
| 2020 January | 29 | 7 | 36 |
| 2019 December | 19 | 3 | 22 |
| 2019 November | 32 | 5 | 37 |
| 2019 October | 20 | 3 | 23 |
| 2019 September | 15 | 8 | 23 |
| 2019 August | 41 | 10 | 51 |
| 2019 July | 23 | 12 | 35 |
| 2019 June | 17 | 9 | 26 |
| 2019 May | 38 | 5 | 43 |
| 2019 April | 29 | 12 | 41 |
| 2019 March | 26 | 10 | 36 |
| 2019 February | 28 | 8 | 36 |
| 2019 January | 9 | 7 | 16 |
| 2018 December | 21 | 9 | 30 |
| 2018 November | 41 | 11 | 52 |
| 2018 October | 90 | 9 | 99 |
| 2018 September | 33 | 8 | 41 |
| 2018 August | 20 | 6 | 26 |
| 2018 July | 21 | 2 | 23 |
| 2018 June | 26 | 4 | 30 |
| 2018 May | 34 | 2 | 36 |
| 2018 April | 44 | 7 | 51 |
| 2018 March | 42 | 6 | 48 |
| 2018 February | 26 | 3 | 29 |
| 2018 January | 12 | 3 | 15 |
| 2017 December | 59 | 7 | 66 |
| 2017 November | 17 | 13 | 30 |
| 2017 October | 25 | 11 | 36 |
| 2017 September | 26 | 17 | 43 |
| 2017 August | 27 | 18 | 45 |
| 2017 July | 25 | 12 | 37 |
| 2017 June | 26 | 6 | 32 |
| 2017 May | 19 | 7 | 26 |
| 2017 April | 19 | 3 | 22 |
| 2017 March | 29 | 43 | 72 |
| 2017 February | 18 | 4 | 22 |
| 2017 January | 22 | 8 | 30 |
| 2016 December | 24 | 9 | 33 |
| 2016 November | 16 | 6 | 22 |
| 2016 October | 26 | 6 | 32 |
| 2016 September | 10 | 4 | 14 |
| 2016 August | 7 | 1 | 8 |
| 2016 July | 14 | 10 | 24 |
| 2016 June | 18 | 3 | 21 |
| 2016 May | 14 | 3 | 17 |
| 2016 April | 17 | 1 | 18 |
| 2016 March | 28 | 12 | 40 |
| 2016 February | 40 | 13 | 53 |
| 2016 January | 32 | 10 | 42 |
| 2015 December | 27 | 13 | 40 |
| 2015 November | 29 | 6 | 35 |
| 2015 October | 35 | 18 | 53 |
| 2015 September | 22 | 7 | 29 |
| 2015 August | 32 | 12 | 44 |
| 2015 July | 14 | 7 | 21 |
| 2015 June | 27 | 11 | 38 |
| 2015 May | 58 | 9 | 67 |
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