Resumen Introduccion y objetivos Se han descrito previamente variantes geneticas del gen HCN4 con... more Resumen Introduccion y objetivos Se han descrito previamente variantes geneticas del gen HCN4 con el fenotipo combinado de sindrome del seno enfermo (SSE) y miocardiopatia no compactada del ventriculo izquierdo (MCNC). Actualmente hay pocos casos en los que se haya probado esta relacion y ningun caso previo se ha relacionado con dilatacion de la auricula izquierda (DAi). El objetivo es estudiar un trastorno familiar caracterizado por SSE, DAi e hipertrabeculacion/fenotipo de MCNC para identificar las bases geneticas y electrofisiologicas subyacentes. Metodos Se realizo una evaluacion clinica, genetica y electrofisiologica de una familia con SSE y MCNC. Se practicaron electrocardiograma, Holter, ecocardiografia y ergometria, asi como resonancia magnetica en los casos patologicos. Se realizaron pruebas geneticas con tecnicas next-generation-sequencing (NGS) y un estudio funcional de la variante genetica candidata en celulas de ovario de hamster chino. Resultados Se observo bradicardia sinusal en 12 familiares, asociada con criterios diagnosticos de MCNC en 4, hipertrabeculacion en 6 y DAi en 9. Se detecto la variante genetica HCN4 c.1123C > T (p.Arg375Cys) en heterocigosis en todos los pacientes afectados y ausente en individuos normales. Los analisis electrofisiologicos mostraron que la amplitud y las densidades de las corrientes de HCN4 (IHCN4) generadas por canales HCN4 con la variante genetica p.R375C eran significativamente menores que las generadas por canales no mutados. Conclusiones El fenotipo combinado de SSE, DAi y fenotipo de MCNC esta asociado con la variante genetica de HCN4 c.1123C > T (p.Arg375Cys). El gen HCN4 deberia incluirse en el diagnostico genetico de la MCNC y en formas familiares de SSE, pero tambien en individuos con bradicardia sinusal y DAi.
INTRODUCTION AND OBJECTIVES Hereditary transthyretin amyloidosis (hATTR) is a disease caused by m... more INTRODUCTION AND OBJECTIVES Hereditary transthyretin amyloidosis (hATTR) is a disease caused by mutations in the transthyretin gene that frequently shows cardiac involvement due to amyloid deposition in the myocardium. Our objective was to identify cardiac involvement in a Spanish cohort. METHODS Retrospective multicenter study of patients diagnosed with hATTR with cardiac involvement from Spanish centers. We collected demographic, clinical, and genetic data. RESULTS A total of 181 patients from 26 centers were included (65.2% men, with a median age at diagnosis of 62 years). The most frequent mutations were Val50Met (67.7%) and Val142Ile (12.4%). The main reason for consultation was extracardiac symptoms (69%), mainly neurological. The mean N-terminal pro-B-type natriuretic peptide level was 2145±3586 pg/mL. The most characteristic electrocardiogram findings were a pseudoinfarct pattern (25.9%) and atrioventricular block (25.3%). Mean ventricular thickness was 15.4±4.1mm. Longitudi...
Resumen Introduccion y objetivos Segun las guias de muerte subita, se debe considerar un desfibri... more Resumen Introduccion y objetivos Segun las guias de muerte subita, se debe considerar un desfibrilador automatico implantable (DAI) para los pacientes con miocardiopatia dilatada debida a variantes en el gen de la lamina (LMNA) con al menos 2 factores: varones, fraccion de eyeccion del ventriculo izquierdo (FEVI) Metodos Se evaluo la relacion entre factores de riesgo y eventos cardiovasculares en una cohorte de 140 portadores de variantes en LMNA (54 probandos, 86 familiares, edad ≥ 16 anos). Se considero: a) evento arritmico mayor (EAM) si hubo descarga apropiada del DAI o muerte subita, y b) muerte por insuficiencia cardiaca, incluidos los trasplantes. Resultados Se identificaron 11 variantes nuevas y 21 previamente publicadas. La FEVI Conclusiones En el registro REDLAMINA, los unicos 2 predictores asociados con EAM fueron la TVNS y la FEVI
Revista espanola de cardiologia (English ed.), Jan 21, 2018
The cardiology day hospital (CDH) is an alternative to hospitalization for scheduled cardiologica... more The cardiology day hospital (CDH) is an alternative to hospitalization for scheduled cardiological procedures. The aims of this study were to analyze the activity, quality of care and the cost-effectiveness of a CDH. An observational descriptive study was conducted of the health care activity during the first year of operation of DHHA. The quality of care was analyzed through the substitution rate (outpatient procedures), cancellation rates, complications, and a satisfaction survey. For cost-effectiveness, we calculated the economic savings of avoided hospital stays. A total of 1646 patients were attended (mean age 69 ± 15 years, 60% men); 2550 procedures were scheduled with a cancellation rate of 4%. The most frequently cancelled procedure was electrical cardioversion. The substitution rate for scheduled invasive procedures was 66%. Only 1 patient required readmission after discharge from the CDH due to heart failure. Most surveyed patients (95%) considered the care received in the...
Revista espanola de cardiologia (English ed.), Jan 26, 2018
Magnetic resonance (MR) is considered the gold standard in the assessment of myocardial morpholog... more Magnetic resonance (MR) is considered the gold standard in the assessment of myocardial morphology, function, perfusion, and viability. However, its main limitation is its scarce availability. In 2014, we installed the first MR scanner exclusively managed by a cardiology department within the publicly-funded Spanish healthcare system with the aim of improving patient-care, training and research in the department. In the time interval analyzed, July 2014 to May 2017, 3422 cardiac MR scans were performed (32minutes used per study; 96% with good quality; 75% with contrast media administration). The most prevalent clinical indications were cardiomyopathy (29%) and ischemic heart disease (12%). Twenty-five percent of studies were conducted in the context of research protocols. Follow-up studies predominated among outpatients, while pretherapeutic assessment was more common in hospitalized patients. The presumptive diagnosis was changed by cardiac MR scanning in up to 20% of patients inve...
Resumen Introduccion y objetivos Se han descrito previamente variantes geneticas del gen HCN4 con... more Resumen Introduccion y objetivos Se han descrito previamente variantes geneticas del gen HCN4 con el fenotipo combinado de sindrome del seno enfermo (SSE) y miocardiopatia no compactada del ventriculo izquierdo (MCNC). Actualmente hay pocos casos en los que se haya probado esta relacion y ningun caso previo se ha relacionado con dilatacion de la auricula izquierda (DAi). El objetivo es estudiar un trastorno familiar caracterizado por SSE, DAi e hipertrabeculacion/fenotipo de MCNC para identificar las bases geneticas y electrofisiologicas subyacentes. Metodos Se realizo una evaluacion clinica, genetica y electrofisiologica de una familia con SSE y MCNC. Se practicaron electrocardiograma, Holter, ecocardiografia y ergometria, asi como resonancia magnetica en los casos patologicos. Se realizaron pruebas geneticas con tecnicas next-generation-sequencing (NGS) y un estudio funcional de la variante genetica candidata en celulas de ovario de hamster chino. Resultados Se observo bradicardia sinusal en 12 familiares, asociada con criterios diagnosticos de MCNC en 4, hipertrabeculacion en 6 y DAi en 9. Se detecto la variante genetica HCN4 c.1123C > T (p.Arg375Cys) en heterocigosis en todos los pacientes afectados y ausente en individuos normales. Los analisis electrofisiologicos mostraron que la amplitud y las densidades de las corrientes de HCN4 (IHCN4) generadas por canales HCN4 con la variante genetica p.R375C eran significativamente menores que las generadas por canales no mutados. Conclusiones El fenotipo combinado de SSE, DAi y fenotipo de MCNC esta asociado con la variante genetica de HCN4 c.1123C > T (p.Arg375Cys). El gen HCN4 deberia incluirse en el diagnostico genetico de la MCNC y en formas familiares de SSE, pero tambien en individuos con bradicardia sinusal y DAi.
INTRODUCTION AND OBJECTIVES Hereditary transthyretin amyloidosis (hATTR) is a disease caused by m... more INTRODUCTION AND OBJECTIVES Hereditary transthyretin amyloidosis (hATTR) is a disease caused by mutations in the transthyretin gene that frequently shows cardiac involvement due to amyloid deposition in the myocardium. Our objective was to identify cardiac involvement in a Spanish cohort. METHODS Retrospective multicenter study of patients diagnosed with hATTR with cardiac involvement from Spanish centers. We collected demographic, clinical, and genetic data. RESULTS A total of 181 patients from 26 centers were included (65.2% men, with a median age at diagnosis of 62 years). The most frequent mutations were Val50Met (67.7%) and Val142Ile (12.4%). The main reason for consultation was extracardiac symptoms (69%), mainly neurological. The mean N-terminal pro-B-type natriuretic peptide level was 2145±3586 pg/mL. The most characteristic electrocardiogram findings were a pseudoinfarct pattern (25.9%) and atrioventricular block (25.3%). Mean ventricular thickness was 15.4±4.1mm. Longitudi...
Resumen Introduccion y objetivos Segun las guias de muerte subita, se debe considerar un desfibri... more Resumen Introduccion y objetivos Segun las guias de muerte subita, se debe considerar un desfibrilador automatico implantable (DAI) para los pacientes con miocardiopatia dilatada debida a variantes en el gen de la lamina (LMNA) con al menos 2 factores: varones, fraccion de eyeccion del ventriculo izquierdo (FEVI) Metodos Se evaluo la relacion entre factores de riesgo y eventos cardiovasculares en una cohorte de 140 portadores de variantes en LMNA (54 probandos, 86 familiares, edad ≥ 16 anos). Se considero: a) evento arritmico mayor (EAM) si hubo descarga apropiada del DAI o muerte subita, y b) muerte por insuficiencia cardiaca, incluidos los trasplantes. Resultados Se identificaron 11 variantes nuevas y 21 previamente publicadas. La FEVI Conclusiones En el registro REDLAMINA, los unicos 2 predictores asociados con EAM fueron la TVNS y la FEVI
Revista espanola de cardiologia (English ed.), Jan 21, 2018
The cardiology day hospital (CDH) is an alternative to hospitalization for scheduled cardiologica... more The cardiology day hospital (CDH) is an alternative to hospitalization for scheduled cardiological procedures. The aims of this study were to analyze the activity, quality of care and the cost-effectiveness of a CDH. An observational descriptive study was conducted of the health care activity during the first year of operation of DHHA. The quality of care was analyzed through the substitution rate (outpatient procedures), cancellation rates, complications, and a satisfaction survey. For cost-effectiveness, we calculated the economic savings of avoided hospital stays. A total of 1646 patients were attended (mean age 69 ± 15 years, 60% men); 2550 procedures were scheduled with a cancellation rate of 4%. The most frequently cancelled procedure was electrical cardioversion. The substitution rate for scheduled invasive procedures was 66%. Only 1 patient required readmission after discharge from the CDH due to heart failure. Most surveyed patients (95%) considered the care received in the...
Revista espanola de cardiologia (English ed.), Jan 26, 2018
Magnetic resonance (MR) is considered the gold standard in the assessment of myocardial morpholog... more Magnetic resonance (MR) is considered the gold standard in the assessment of myocardial morphology, function, perfusion, and viability. However, its main limitation is its scarce availability. In 2014, we installed the first MR scanner exclusively managed by a cardiology department within the publicly-funded Spanish healthcare system with the aim of improving patient-care, training and research in the department. In the time interval analyzed, July 2014 to May 2017, 3422 cardiac MR scans were performed (32minutes used per study; 96% with good quality; 75% with contrast media administration). The most prevalent clinical indications were cardiomyopathy (29%) and ischemic heart disease (12%). Twenty-five percent of studies were conducted in the context of research protocols. Follow-up studies predominated among outpatients, while pretherapeutic assessment was more common in hospitalized patients. The presumptive diagnosis was changed by cardiac MR scanning in up to 20% of patients inve...
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Papers by María Gallego