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1.
Int J Cardiovasc Imaging ; 37(3): 953-964, 2021 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-33057991

RESUMEN

An enlarged left atrial volume index (LAVI) at rest mirrors increased LA pressure and/or impairment of LA function. A cardiovascular stress may acutely modify left atrial volume (LAV) within minutes. Aim of this study was to assess the feasibility and functional correlates of LAV-stress echocardiography (SE) Out of 514 subjects referred to 10 quality-controlled labs, LAV-SE was completed in 490 (359 male, age 67 ± 12 years) with suspected or known chronic coronary syndromes (n = 462) or asymptomatic controls (n = 28). The utilized stress was exercise in 177, vasodilator in 167, dobutamine in 146. LAV was measured with the biplane disk summation method. SE was performed with the ABCDE protocol. The intra-observer and inter-observer LAV variability were 5% and 8%, respectively. ∆-LAVI changes (stress-rest) were negatively correlated with resting LAVI (r = - 0.271, p < 0.001) and heart rate reserve (r = -.239, p < 0.001). LAV-dilators were defined as those with stress-rest increase ≥ 6.8 ml/m2, a cutoff derived from a calculated reference change value above the biological, analytical and observer variability of LAVI. LAV dilation occurred in 56 patients (11%), more frequently with exercise (16%) and dipyridamole (13%) compared to dobutamine (4%, p < 0.01). At multivariable logistic regression analysis, B-lines ≥ 2 (OR: 2.586, 95% CI = 1.1293-5.169, p = 0.007) and abnormal contractile reserve (OR: 2.207, 95% CI = 1.111-4.386, p = 0.024) were associated with LAV dilation. In conclusion, LAV-SE is feasible with high success rate and low variability in patients with chronic coronary syndromes. LAV dilation is more likely with reduced left ventricular contractile reserve and pulmonary congestion.


Asunto(s)
Función del Atrio Izquierdo , Presión Atrial , Enfermedad de la Arteria Coronaria/diagnóstico por imagen , Ecocardiografía Doppler de Pulso , Ecocardiografía de Estrés , Atrios Cardíacos/diagnóstico por imagen , Agonistas de Receptores Adrenérgicos beta 1/administración & dosificación , Anciano , Anciano de 80 o más Años , Argentina , Brasil , Enfermedad Crónica , Enfermedad de la Arteria Coronaria/fisiopatología , Europa (Continente) , Ejercicio Físico , Estudios de Factibilidad , Femenino , Atrios Cardíacos/fisiopatología , Humanos , Italia , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Estudios Prospectivos , Síndrome , Vasodilatadores/administración & dosificación
2.
Eur J Med Genet ; 54(3): 306-9, 2011.
Artículo en Inglés | MEDLINE | ID: mdl-21276881

RESUMEN

High prevalence of somatic mutations in the cardiac transcription factor genes NKX2.5 and GATA4 have been reported in the affected cardiovascular tissue of patients with isolated cardiac septal defects, suggesting a role of somatic mutations in the pathogenesis of these congenital heart defects (CHDs). However, all somatic mutations have been identified in DNA extracted from an archive of formalin-fixed cardiac tissues. In the present study, to address the hypothesis that somatic mutations are important in isolated CHDs, we analyzed the GATA4 and NKX2.5 genes in the fresh-frozen pathologic cardiac tissue specimen and corresponding non-diseased tissue obtained from a series of 62 CHD patients, including 35 patients with cardiac septal defects and 27 with other cardiac anomalies. We identified one variant and two common polymorphisms in the NKX2.5 gene, and six variants and two common polymorphisms in the GATA4 gene. All identified variants were seen in both the fresh-frozen pathologic cardiac tissue and the corresponding non-diseased tissue, which indicates that they all were constitutional variants. The present study has identified NKX2.5 and GATA4 constitutional variants in our CHD cohort, but was unable to replicate the previously published findings of high prevalence of somatically derived sequence mutations in patients with cardiac septal defects using fresh-frozen cardiac tissues rather than formalin-fixed tissues.


Asunto(s)
Factor de Transcripción GATA4/genética , Defectos de los Tabiques Cardíacos/genética , Proteínas de Homeodominio/genética , Mutación , Factores de Transcripción/genética , Adolescente , Niño , Preescolar , Estudios de Cohortes , Análisis Mutacional de ADN , Femenino , Secciones por Congelación , Proteína Homeótica Nkx-2.5 , Humanos , Lactante , Recién Nacido , Masculino , Mutación Missense , Miocardio/metabolismo , Miocardio/patología , Polimorfismo de Nucleótido Simple , Adulto Joven
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