Atrioventricular block in dilated cardiomyopathy and mutation in emerin gene

Báez-Ferrer, Néstor; Díaz-Flores-Estévez, Felícitas; Pérez-Cejas, Antonia

doi:10.1016/j.medcle.2023.07.010

array:24 ["pii" => "S2387020623004953" "issn" => "23870206" "doi" => "10.1016/j.medcle.2023.07.010" "estado" => "S300" "fechaPublicacion" => "2023-12-22" "aid" => "6380" "copyright" => "Elsevier España, S.L.U.. All rights reserved" "copyrightAnyo" => "2023" "documento" => "simple-article" "crossmark" => 1 "subdocumento" => "cor" "cita" => "Med Clin. 2023;161:551-2" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "Traduccion" => array:1 [ "es" => array:19 [ "pii" => "S0025775323004530" "issn" => "00257753" "doi" => "10.1016/j.medcli.2023.07.009" "estado" => "S300" "fechaPublicacion" => "2023-12-22" "aid" => "6380" "copyright" => "Elsevier España, S.L.U." "documento" => "simple-article" "crossmark" => 1 "subdocumento" => "cor" "cita" => "Med Clin. 2023;161:551-2" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "es" => array:10 [ "idiomaDefecto" => true "cabecera" => "Carta al Editor" "titulo" => "Bloqueo auriculoventricular en miocardiopatía dilatada y mutación en el gen de la emerina" "tienePdf" => "es" "tieneTextoCompleto" => "es" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "551" "paginaFinal" => "552" ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Atrioventricular block in dilated cardiomyopathy and mutation in emerin gene" ] ] "contieneTextoCompleto" => array:1 [ "es" => true ] "contienePdf" => array:1 [ "es" => true ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Néstor Báez-Ferrer, Felícitas Díaz-Flores-Estévez, Antonia Pérez-Cejas" "autores" => array:3 [ 0 => array:2 [ "nombre" => "Néstor" "apellidos" => "Báez-Ferrer" ] 1 => array:2 [ "nombre" => "Felícitas" "apellidos" => "Díaz-Flores-Estévez" ] 2 => array:2 [ "nombre" => "Antonia" "apellidos" => "Pérez-Cejas" ] ] ] ] ] "idiomaDefecto" => "es" "Traduccion" => array:1 [ "en" => array:9 [ "pii" => "S2387020623004953" "doi" => "10.1016/j.medcle.2023.07.010" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2387020623004953?idApp=UINPBA00004N" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0025775323004530?idApp=UINPBA00004N" "url" => "/00257753/0000016100000012/v1_202312072233/S0025775323004530/v1_202312072233/es/main.assets" ] ] "itemSiguiente" => array:19 [ "pii" => "S2387020623004916" "issn" => "23870206" "doi" => "10.1016/j.medcle.2023.07.009" "estado" => "S300" "fechaPublicacion" => "2023-12-22" "aid" => "6352" "copyright" => "Elsevier España, S.L.U." "documento" => "simple-article" "crossmark" => 1 "subdocumento" => "cor" "cita" => "Med Clin. 2023;161:552-3" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "en" => array:10 [ "idiomaDefecto" => true "cabecera" => "Letter to the Editor" "titulo" => "New mutation in the calcium-sensing receptor gene as a form of presentation of familial hypocalciuric hypercalcemia type 1" "tienePdf" => "en" "tieneTextoCompleto" => "en" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "552" "paginaFinal" => "553" ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Nueva mutación en el gen del receptor sensible al calcio como forma de presentación de hipercalcemia hipocalciúrica familiar tipo 1" ] ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Jorge Rojo Álvaro, Ihintza Larrañaga Unanue, Ismene Bilbao Garay" "autores" => array:3 [ 0 => array:2 [ "nombre" => "Jorge" "apellidos" => "Rojo Álvaro" ] 1 => array:2 [ "nombre" => "Ihintza" "apellidos" => "Larrañaga Unanue" ] 2 => array:2 [ "nombre" => "Ismene" "apellidos" => "Bilbao Garay" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "es" => array:9 [ "pii" => "S0025775323004104" "doi" => "10.1016/j.medcli.2023.07.004" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0025775323004104?idApp=UINPBA00004N" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2387020623004916?idApp=UINPBA00004N" "url" => "/23870206/0000016100000012/v2_202401260944/S2387020623004916/v2_202401260944/en/main.assets" ] "itemAnterior" => array:19 [ "pii" => "S2387020623004941" "issn" => "23870206" "doi" => "10.1016/j.medcle.2023.06.040" "estado" => "S300" "fechaPublicacion" => "2023-12-22" "aid" => "6376" "copyright" => "Elsevier España, S.L.U." "documento" => "simple-article" "crossmark" => 1 "subdocumento" => "cor" "cita" => "Med Clin. 2023;161:550-1" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "en" => array:10 [ "idiomaDefecto" => true "cabecera" => "Letter to the Editor" "titulo" => "Severe hyperphosphoremia and hypernatremia induced by sodium phosphate enemas" "tienePdf" => "en" "tieneTextoCompleto" => "en" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "550" "paginaFinal" => "551" ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Hiperfosforemia e hipernatremia graves inducidas por enemas de fosfato sódico" ] ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Vanesa García Chumillas, Elena Borrego García, Miguel Ángel González Martínez" "autores" => array:3 [ 0 => array:2 [ "nombre" => "Vanesa" "apellidos" => "García Chumillas" ] 1 => array:2 [ "nombre" => "Elena" "apellidos" => "Borrego García" ] 2 => array:2 [ "nombre" => "Miguel Ángel" "apellidos" => "González Martínez" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "es" => array:9 [ "pii" => "S0025775323004499" "doi" => "10.1016/j.medcli.2023.06.040" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0025775323004499?idApp=UINPBA00004N" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2387020623004941?idApp=UINPBA00004N" "url" => "/23870206/0000016100000012/v2_202401260944/S2387020623004941/v2_202401260944/en/main.assets" ] "en" => array:14 [ "idiomaDefecto" => true "cabecera" => "Letter to the Editor" "titulo" => "Atrioventricular block in dilated cardiomyopathy and mutation in emerin gene" "tieneTextoCompleto" => true "saludo" => "Dear Editor," "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "551" "paginaFinal" => "552" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "Néstor Báez-Ferrer, Felícitas Díaz-Flores-Estévez, Antonia Pérez-Cejas" "autores" => array:3 [ 0 => array:4 [ "nombre" => "Néstor" "apellidos" => "Báez-Ferrer" "email" => array:1 [ 0 => "nestor.baez@hotmail.com" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "*" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "Felícitas" "apellidos" => "Díaz-Flores-Estévez" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "b" "identificador" => "aff0010" ] ] ] 2 => array:3 [ "nombre" => "Antonia" "apellidos" => "Pérez-Cejas" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "b" "identificador" => "aff0010" ] ] ] ] "afiliaciones" => array:2 [ 0 => array:3 [ "entidad" => "Servicio de Cardiología, Hospital Universitario de Canarias, Santa Cruz de Tenerife, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Unidad de Genética, Laboratorio Central, Hospital Universitario de Canarias. Santa Cruz de Tenerife, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Bloqueo auriculoventricular en miocardiopatía dilatada y mutación en el gen de la emerina" ] ] "textoCompleto" => "Non-ischaemic dilated cardiomyopathy (DCM) is a primary cardiomyopathy with a prevalence of approximately 1/250 and 1/400 people in the general population, with variable penetrance and clinical expression.<a class="elsevierStyleCrossRef" href="#bib0005">1</a> The genes involved are mainly autosomal dominant, with the most common being those encoding sarcomeric proteins such as titin (TTN) or the β-myosin heavy chain (MYH7) or encoding nuclear envelope proteins such as lamin A/C.<a class="elsevierStyleCrossRef" href="#bib0010">2</a> However, there is a small group of patients with familial DCM who may have X-linked inheritance,<a class="elsevierStyleCrossRef" href="#bib0005">1</a> as in the case of the missense mutation c.77 T>C (p.Val26Ala) in the nuclear envelope protein emerin (EMD) gene, located on chromosome Xq28.<a class="elsevierStyleCrossRef" href="#bib0015">3</a> We report 3 atypical clinical cases of DCM related to the c.77 T > C mutation (p.Val26Ala). The characteristics of the patients are listed in <a class="elsevierStyleCrossRef" href="#tbl0005">Table 1</a>.<elsevierMultimedia ident="tbl0005"></elsevierMultimedia>The first case is a 44-year-old male, with no previous history, who went to the emergency department for cardiogenic syncope with unremarkable physical examination and echocardiography. The electrocardiogram showed complete atrioventricular block (AVB) with wide QRS, so it was decided to implant a permanent dual-chamber pacemaker. At the age of 48, the patient developed heart failure (HF) due to DCM and severe left ventricular dysfunction. One year later a cousin of his received a heart transplant (HT) related to the c.77 T > C (p.Val26Ala) mutation in the EMD gene which was confirmed in our patient. Then, in 2020, he had a decompensation due to HF, receiving implantable cardioverter defibrillator and cardiac resynchronisation therapy (ICD-CRT) in primary prevention. He is currently under follow-up by the Heart Failure Unit at our centre.Another 48-year-old male also went to the emergency department for cardiogenic syncope with a normal physical examination. He had mild left ventricular hypertrophy with no other relevant echocardiographic findings. Since the electrocardiogram showed sinus rhythm with complete right bundle branch block and left anterior hemiblock, an electrophysiological study was requested, with abnormal values of the HV interval, and a definitive dual-chamber pacemaker was implanted. A cousin of his needed CT scan and the c.77 T > C (p.Val26Ala) mutation in the EMD gene was identified, confirming this genetic suspicion in our patient. Five years after pacemaker implantation, he started with HF due to DCM, and an ICD-CRT was implanted without new decompensations until the present date.The third case is a 41-year-old male with a history of dyslipidaemia who presented with de novo atrial fibrillation during admission for a stroke. The electrocardiogram showed atrial fibrillation at 40 bpm and complete left bundle branch block. Echocardiography showed mild dysfunction with normal volumes. During admission monitoring, atrioventricular conduction block was observed. A definitive single-chamber pacemaker was implanted. During outpatient follow-up the patient subsequently developed DCM and it was decided to replace the pacemaker with an ICD-CRT for primary prevention at the age of 43 years. At that time, a genetic study was carried out and the c.77 T > C (p.Val26Ala) mutation in the EMD gene was detected. At the age of 50, given that he presented criteria for advanced HF, an elective CT scan was performed.The clinical presentation of DCM differs depending on the gene affected. Thus, patients with TTN mutation have a better prognosis compared to the lamin A/C mutation, given the superior response to optimal medical treatment. Lamin AC mutation is associated with a high risk of malignant ventricular arrhythmias and sudden death.<a class="elsevierStyleCrossRefs" href="#bib0015">3,4</a> In addition, clinical presentation as advanced AVB of familial DCM is rare, although it has been reported in other pathogenic variants of nuclear envelope proteins such as lamin A/C.<a class="elsevierStyleCrossRef" href="#bib0025">5</a> Histopathology revealed atrophy of the atrioventricular node with fibroadipose degeneration, deformed nuclei with increased lipofuscin and glycogen accumulation around the mitochondria. Our series suggests that the presentation of an advanced atrioventricular conduction disorder may be the first manifestation of familial DCM, in this case due to the c.77 T > C (p.Val26Ala) mutation in the EMD gene, never previously described in the literature.Therefore, in clinical practice, young patients presenting with a complete AVB in the absence of any other signs should be further assessed. Particular emphasis should be placed on ruling out a family history and a commitment to reasonably rule out an underlying familial DCM.Ethical considerationsInformed consents were obtained from the patients in order to publish the work.FundingThis study did not receive any funding.Conflict of interestThe authors declare no conflict of interest." "textoCompletoSecciones" => array:1 [ "secciones" => array:4 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Ethical considerations" ] 1 => array:2 [ "identificador" => "sec0010" "titulo" => "Funding" ] 2 => array:2 [ "identificador" => "sec0015" "titulo" => "Conflict of interest" ] 3 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "multimedia" => array:1 [ 0 => array:8 [ "identificador" => "tbl0005" "etiqueta" => "Table 1" "tipo" => "MULTIMEDIATABLA" "mostrarFloat" => true "mostrarDisplay" => false "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0005" "detalle" => "Table " "rol" => "short" ] ] "tabla" => array:2 [ "leyenda" => "AVB: atrioventricular block; DCM: dilated cardiomyopathy; EMD: emerin; HFU: Heart Failure Unit; ICD-CRT: implantable cardioverter-defibrillator and cardiac resynchronisation therapy; LV: left ventricle." "tablatextoimagen" => array:1 [ 0 => array:2 [ "tabla" => array:1 [ 0 => """ <table border="0" frame="\n \t\t\t\t\tvoid\n \t\t\t\t" class=""><thead title="thead"><tr title="table-row"><th class="td" title="\n \t\t\t\t\ttable-head\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Patients \t\t\t\t\t\t\n \t\t\t\t\t\t</th><th class="td" title="\n \t\t\t\t\ttable-head\n \t\t\t\t " align="center" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Age of AVB \t\t\t\t\t\t\n \t\t\t\t\t\t</th><th class="td" title="\n \t\t\t\t\ttable-head\n \t\t\t\t " align="center" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Baseline echocardiography during AVB \t\t\t\t\t\t\n \t\t\t\t\t\t</th><th class="td" title="\n \t\t\t\t\ttable-head\n \t\t\t\t " align="center" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Family history of DCM \t\t\t\t\t\t\n \t\t\t\t\t\t</th><th class="td" title="\n \t\t\t\t\ttable-head\n \t\t\t\t " align="center" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Age of DCM onset \t\t\t\t\t\t\n \t\t\t\t\t\t</th><th class="td" title="\n \t\t\t\t\ttable-head\n \t\t\t\t " align="center" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Age of ICD-CRT implantation \t\t\t\t\t\t\n \t\t\t\t\t\t</th><th class="td" title="\n \t\t\t\t\ttable-head\n \t\t\t\t " align="center" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Age of heart transplantation \t\t\t\t\t\t\n \t\t\t\t\t\t</th></tr></thead><tbody title="tbody"><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">1 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">44 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Normal \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Yes \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">48 years old \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">52 years old \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Follow-up at HFU \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">2 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">48 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Mild LV hypertrophy \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Yes \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">53 years old \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">53 years old \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Follow-up at HFU \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">3 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">41 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Mild LV systolic dysfunction \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">No \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">42 years old \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">45 years \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">50 years \t\t\t\t\t\t\n \t\t\t\t</td></tr></tbody></table> """ ] "imagenFichero" => array:1 [ 0 => "xTab3444905.png" ] ] ] ] "descripcion" => array:1 [ "en" => "Baseline characteristics of patients and milestones in the natural history of their DCM for the c.77 T > C (p.Val26Ala) mutation in the EMD gene." ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:5 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Epidemiology of the inherited cardiomyopathies" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "W.J. McKenna" 1 => "D.P. Judge" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1038/s41569-020-0428-2" "Revista" => array:6 [ "tituloSerie" => "Nat Rev Cardiol" "fecha" => "2021" "volumen" => "18" "paginaInicial" => "22" "paginaFinal" => "36" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/32895535" "web" => "Medline" ] ] ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib0010" "etiqueta" => "2" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Genetic testing as a guide for treatment in dilated cardiomyopathies" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "S. García-Hernández" 1 => "L.M. Iglesias" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1007/s11886-022-01772-8" "Revista" => array:6 [ "tituloSerie" => "Curr Cardiol Rep" "fecha" => "2022" "volumen" => "24" "paginaInicial" => "1537" "paginaFinal" => "1546" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/35994197" "web" => "Medline" ] ] ] ] ] ] ] ] 2 => array:3 [ "identificador" => "bib0015" "etiqueta" => "3" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "S. Cuenca" 1 => "M.J. Ruiz-Cano" 2 => "J.R. Gimeno-Blanes" 3 => "A. Jurado" 4 => "C. Salas" 5 => "I. Gómez-Díaz" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "J Hear Lung Transplant" "fecha" => "2016" "volumen" => "35" "paginaInicial" => "625" "paginaFinal" => "635" ] ] ] ] ] ] 3 => array:3 [ "identificador" => "bib0020" "etiqueta" => "4" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Risk predictors in a Spanish cohort with cardiac laminopathies. The REDLAMINA registry" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "R. Barriales-Villa" 1 => "J.P. Ochoa" 2 => "J.M. Larrañaga-Moreira" 3 => "J. Salazar-Mendiguchía" 4 => "C. Díez-López" 5 => "M.A. Restrepo-Córdoba" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Rev Española Cardiol (English Ed.)" "fecha" => "2021" "volumen" => "74" "numero" => "3" "paginaInicial" => "216" "paginaFinal" => "224" ] ] ] ] ] ] 4 => array:3 [ "identificador" => "bib0025" "etiqueta" => "5" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Electrophysiological and histopathological characteristics of progressive atrioventricular block accompanied by familial dilated cardiomyopathy caused by a novel mutation of lamin A/C gene" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "J. Otomo" 1 => "S. Kure" 2 => "T. Shiba" 3 => "A. Karibe" 4 => "T. Shinozaki" 5 => "T. Yagi" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1046/j.1540-8167.2004.40096.x" "Revista" => array:6 [ "tituloSerie" => "J Cardiovasc Electrophysiol" "fecha" => "2005" "volumen" => "16" "paginaInicial" => "137" "paginaFinal" => "145" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/15720451" "web" => "Medline" ] ] ] ] ] ] ] ] ] ] ] ] ] "idiomaDefecto" => "en" "url" => "/23870206/0000016100000012/v2_202401260944/S2387020623004953/v2_202401260944/en/main.assets" "Apartado" => array:4 [ "identificador" => "43309" "tipo" => "SECCION" "en" => array:2 [ "titulo" => "Letters to the Editor" "idiomaDefecto" => true ] "idiomaDefecto" => "en" ] "PDF" => "https://static.elsevier.es/multimedia/23870206/0000016100000012/v2_202401260944/S2387020623004953/v2_202401260944/en/main.pdf?idApp=UINPBA00004N&text.app=https://www.elsevier.es/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2387020623004953?idApp=UINPBA00004N"]

ISSN: 2387-0206

Launched in 1943, Medicina Clínica is a fortnightly journal aimed at the promotion of clinical research and practice among internal medicine and other specialists. The key characteristics of Medicina Clínica are the scientific and methodological rigor of its manuscripts, the topicality of its contents, and, especially, its practical focus with highly useful information for clinical practice. Medicina Clínica is predominantly interested in publishing original research manuscripts, which are rigorously selected according to their quality, originality, and interest, and also in continued medical education-oriented manuscripts, which are commissioned by the journal to relevant authors (Editorials, Reviews, and Diagnosis and Treatment). These manuscripts contain updated topics with a major clinical or conceptual relevance in modern medicine. The journal adheres to the standards of academic research publications in all aspects including peer-review and ethical principles. Medicina Clínica is included in the General and Internal Medicine category of Thomson Reuters.

See more Open Access Option

Indexed in:

Current Contents/Clinical Medicine, Journal Citation Reports, SCI-Expanded, Index Medicus/Medline, Excerpta Medica/EMBASE, IBECS, IME, MEDES, PASCAL, SCOPUS, SciVerse ScienceDirect

Subscribe:

Impact factor

The Impact Factor measures the average number of citations received in a particular year by papers published in the journal during the two preceding years.

© Clarivate Analytics, Journal Citation Reports 2022

Impact factor 2023

2.6

Citescore

CiteScore measures average citations received per document published.

Citescore 2023

3.1

SJR

SRJ is a prestige metric based on the idea that not all citations are the same. SJR uses a similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal's impact.

SJR 2023

0.371

SNIP

SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field.

SNIP 2023

0.511

View more metrics

Journal Information

Previous article | Next article

Vol. 161. Issue 12.

Pages 551-552 (December 2023)

Lee este artículo en Español

Export reference

Download PDF

Article

These are the options to access the full texts of the publication Medicina Clínica (English Edition)

Subscriber

If you already have your login data, please click here .

If you have forgotten your password you can you can recover it by clicking here and selecting the option “I have forgotten my password”

Subscribe to

Medicina Clínica (English Edition)

More information

Purchase

Purchase article

Purchasing article the PDF version will be downloaded

Price 19.34 €

Purchase now

Contact

Phone for subscriptions and reporting of errors

From Monday to Friday from 9 a.m. to 6 p.m. (GMT + 1) except for the months of July and August which will be from 9 a.m. to 3 p.m.

Calls from Spain

932 415 960

Calls from outside Spain

+34 932 415 960

E-mail

atencionalcliente@elsevier.com

Publish in

Medicina Clínica

Tools

Free access articles

Associations of physical activity, sedentary time,...

Med Clin. 2024;163:327-35

Burden of COVID-19 variant omicron in immunocompromised...

Med Clin. 2024;163:347-59

Raynaud phenomenon in a baseball...

Med Clin. 2024;163:e79

Medicina Clínica (English Edition) follows the Recommendations for the Conduct, Reporting, Editing and Publication of Scholarly Work in Medical Journals

Indexed in:

Follow us:

Subscribe:

Article

Subscribe to our newsletter