Caracterización de la amiloidosis cardiaca hereditaria por transtirretina en España / Characterization of hereditary transthyretin cardiac amyloidosis in Spain

Introducción y objetivos: La amiloidosis hereditaria por transtirretina (ATTRv) es una enfermedad causada por mutaciones en el gen de la transtirretina que frecuentemente presenta afección cardiaca debido al depósito de amiloide en el miocardio. Nuestro objetivo es describir esta afección en una cohorte española. Métodos: Estudio retrospectivo multicéntrico de pacientes con ATTRv y afección cardiaca provenientes de centros españoles. Se recogieron datos demográficos, clínicos y genéticos.Resultados: En 26 centros se incluyó a 181 pacientes, el 65,2% varones, con una mediana de edad al diagnóstico de 62 años. Las mutaciones más frecuentes fueron Val50Met (67,7%) y Val142Ile (12,4%). El principal motivo de consulta fue extracardiaco (69%), principalmente neurológico. La media de la fracción aminoterminal del propéptido natriurético cerebral (NT-proBNP) fue 2.145±3.586 pg/ml. Lo más característico del electrocardiograma fueron el patrón de seudoinfarto (25,9%) y el bloqueo auriculoventricular (25,3%). El grosor ventricular medio fue 15,4±4,1mm. El strain longitudinal estaba reducido en segmentos basales en el 29,4%. Se observó realce tardío subendocárdico difuso en el 58,8%. En la gammagrafía había captación de grados 2-3 en un 75%. En el seguimiento, el 24,9% ingresó por insuficiencia cardiaca, el 34,3% precisó marcapasos y el 31,6%, trasplante hepático. El 32,5% falleció, principalmente por insuficiencia cardiaca (28,8%). Las mutaciones diferentes de Val50Met se asociaron en general con un peor pronóstico. Conclusiones: La ATTRv cardiaca en España tiene un espectro genético y de afección heterogéneo. El pronóstico es malo principalmente por las complicaciones cardiacas, por lo que son esenciales un diagnóstico y un tratamiento precoces (AU)

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. Result: 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. Longitudinal strain was reduced in basal segments by 29.4%. Late diffuse subendocardial enhancement was observed in 58.8%. Perugini grade 2 or 3 uptake was observed in 75% of scintigraphy scans. During follow-up, 24.9% of the patients were admitted for heart failure, 34.3% required a pacemaker, and 31.6% required a liver transplant. One third (32.5%) died during follow-up, mainly due to heart failure (28.8%). The presence of non-Val50Met mutations was associated with a worse prognosis.Conclusions: HATTR cardiac amyloidosis in Spain shows heterogeneous genetic and clinical involvement. The prognosis is poor, mainly due to cardiac complications. Consequently early diagnosis and treatment are vital (AU)

High-Bandpass Filters in Electrocardiography: Source of Error in the Interpretation of the ST Segment.

Introduction. Artifactual variations in the ST segment may lead to confusion with acute coronary syndromes. Objective. To evaluate how the technical characteristics of the recording mode may distort the ST segment. Material and Method. We made a series of electrocardiograms using different filter configurations in 45 asymptomatic patients. A spectral analysis of the electrocardiograms was made by discrete Fourier transforms, and an accurate recomposition of the ECG signal was obtained from the addition of successive harmonics. Digital high-pass filters of 0.05 and 0.5 Hz were used, and the resulting shapes were compared with the originals. Results. In 42 patients (93%) clinically significant alterations in ST segment level were detected. These changes were only seen in "real time mode" with high-pass filter of 0.5 Hz. Conclusions. Interpretation of the ST segment in "real time mode" should only be carried out using high-pass filters of 0.05 Hz.

Mortality from renal dysfunction in heart transplant patients: creatinine versus glomerular filtration rate.

INTRODUCTION: One of the most common, significant problems after heart transplantation (HT) is the development of renal dysfunction. In recent years, the glomerular filtration rate (GFR) has replaced the serum creatinine as the standard parameter for its determination. Our objective was to analyze which renal function parameter (creatinine or GFR) at 1 year after HT better classified patients who will die during follow-up. PATIENTS AND METHODS: The study included 316 consecutive HT patients surviving at least 1 year after transplantation. Creatinine and GFR were determined by the Modification of Diet in Renal Disease Study (MDRD4) equation. Mortality during the follow-up was analyzed to compare both parameters using receiver operating characteristic curves. RESULTS: Over a mean follow-up of 6±3 years, 97 patients died (30.7%). At 1 year after HT, the patients who succumbed displayed a significantly higher mean creatinine value (1.63±0.65 vs 1.41±0.64 mg/dL; P=.004) and a more decreased GFR (53.8 vs 60.8 mL/min/1.73 m2; P=.006). Both groups had the same area under the curve, 0.61 (95% confidence interval: 0.54-0.68; P=.002). CONCLUSION: Among our population, GFR calculated by the abbreviated MDRD4 equation did not provide any additional prognostic value to serum creatinine at 1 year after HT to predict long-term mortality.

Fiebre persistente, pancitopenia y esplenomegalia en un portador detrasplante cardíaco como manifestaciones de leishmaniasis visceral / Persistent fever, pancytopenia and spleen enlargement in a heart transplant carrier as presentation of visceral leishmaniasis

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Desaparición de una masa valvular aórtica con anticoagulación / Aortic valvular mass disappearance with anticoagulation

Describimos el caso de una mujer joven seguida en la consulta de Neurología por episodios de vértigo, pérdida de campo visual y síncopes. La batería de pruebas analíticas solicitada resultó anodina, descartándose un substrato trombofílico. Las pruebas de imagen pusieron de manifiesto la presencia de lesiones isquémicas occipitales de probable origen microembólico o vasculítico. Ante la repetición de nuevos episodios neurológicos focales se practicó una ecocardiografía transtorácica seguida de un ETE. Esta última constató la presencia de una masa valvular aórtica asociada a regurgitación significativa. Analizando las características ecocardiográficas de la masa, así como el contexto clínico de la paciente, se llegó al diagnóstico de probable fibroelastoma papilar aórtico y se pautó anticoagulación oral. Un año más tarde hemos comprobado la desaparición de la masa valvular aórtica así como la disminución del grado de regurgitación (AU)

Lesiones cutáneas en paciente con trasplante cardíaco / Skin lesions in patient with heart transplant

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