Research progress on the expression of the RBM20 gene in dilated cardiomyopathy / 中国当代儿科杂志

Dilated cardiomyopathy (DCM) is a significant contributor to heart failure and can lead to life-threatening cardiovascular events at any stage. RNA-binding motif protein 20 (RBM20) gene mutation is known to be one of the causes of DCM. This mutation exhibits familial aggregation and is associated with arrhythmias, increasing the risk of sudden and early death. This article delves into the characteristics of the RBM20 gene, highlighting its role in regulating alternative splicing of the TTN gene and calcium/calmodulin-dependent protein kinase type II gene. Furthermore, the article provides a summary of treatment options available for DCM caused by RBM20 gene mutations, aiming to enhance clinicians' understanding of the RBM20 gene and provide new ideas for precision medicine treatment.

The role and significance of microRNA in human cardiovascular disease and forensic science / 法医学杂志

microRNA (miRNA or miR) is a small single stranded non-coding RNA (21-25nt) that regulates gene expression in almost creatures. Currently, plenty of researches on how miRNA affects human cardiovascular disease have been reported. This review highlights recent findings about the role of miRNA in heart tissue and circulation correlated with human cardiovascular disease and explores the application of miRNA in sudden cardiac death in forensic science.

Medición del metabolismo de la glucosa en pacientes con miocardiopatía dilatada mediante tomografía de emisión de positrones con 18F-FDG: experiencia inicial / Measurement of glucose metabolism in patients with dilated cardiomyopathy by 18F-FDG PET

Introducción. La Fluor-18 deoxiglucosa (18F-FDG) ha sido utilizada en múltiples estudios para determinar la tasa de utilización de la glucosa en condiciones normales y patológicas. Actualmente se sabe que en la insuficiencia cardiaca el patrón metabólico se encuentra alterado. Materiales y métodos Se realizó medición del metabolismo glucocídico en 4 portadores de miocardiopatía dilatada y en 3 sujetos sanos, todos bajo una carga de hidratos de carbono vía oral (75gr). Se adquirieron imágenes dinámicas de tórax. La captación miocárdica se estimó a partir de las curvas tiempo-actividad en aurícula y ventrículo izquierdo utilizando el análisis gráfico de Patlak. Resultados. Los siete pacientes estudiados son de sexo masculino. La tasa de captación de la 18F-FDG para el grupo de pacientes con miocardiopatía dilatada fue 1,31 +/- 0,2 versus 1,26 +/- 0,37 ml/100gr/min en el grupo control. Conclusión. La medición del metabolismo cardiaco de la glucosa por medio de 18F-FDG PET es posible de realizar en un servicio clínico, permitiendo de esta forma determinar la repercusión fisiológica y los cambios del metabolismo miocárdico en diversas enfermedades además de la evaluación de terapia.

Introduction. Fluorine18 deoxyglucose (18F-FDG) has been used in numerous studies to determine the cardiac rate of glucose metabolism in normal and pathological conditions. It is known that during heart failure the metabolic pattern is altered. Patlack’s graphical analysis allows the assessment of heart muscle glucose consumption in patients with non-ischaemic heart failure and normal subjects. Methods. Standardized measurement of glucose metabolism was performed in four patients with dilated cardiomyopathy and three healthy subjects. All subjects received an oral load of carbohydrates (75gr) previous to scanning. Dynamic images of the thorax were acquired. Myocardial uptake was estimated from time-activity curves in the atrium and left ventricle using Patlack’s graphical analysis. Results. All subjects studied were male. 18F-FDG uptake rate for the group with dilated cardiomyopathy was 1.31 +/-0.2, versus 1.26 +/- 0.37 ml/100gr/min in the control group. Conclusion. Measurement of cardiac glucose metabolism by 18F-FDG PET is feasible in a clinical service, allowing impact evaluation of physiologic and metabolic changes in the myocardium in different pathologic scenarios in addition to therapy assessment.

Collagen content, but not the ratios of collagen type III/I mRNAs, differs among hypertensive, alcoholic, and idiopathic dilated cardiomyopathy

Cardiac interstitial fibrosis may contribute to ventricular dysfunction and the prognosis of patients with dilated cardiomyopathy. The objective of the present study was to determine if total myocardial collagen content and collagen type III/I (III/I ratio) mRNAs differ in hypertensive, alcoholic, and idiopathic dilated cardiomyopathy subjects. Echocardiography and exercise cardiopulmonary testing were performed in patients with idiopathic (N = 22), hypertensive (N = 12), and alcoholic (N = 11) dilated cardiomyopathy. Morphometric analysis of collagen was performed in fragments obtained by endomyocardial biopsy with picrosirius red staining. The collagen III/I ratio was determined by reverse transcription polymerase chain reaction. Samples of controls (N = 10) were obtained from autopsy. Echocardiographic variables and maximal oxygen uptake were not different among dilated cardiomyopathy groups. Collagen was higher in all dilated cardiomyopathy groups (idiopathic, hypertensive and alcoholic, 7.36 ± 1.09 percent) versus controls (1.12 ± 0.18 percent), P < 0.05. Collagen was lower in idiopathic dilated cardiomyopathy (4.97 ± 0.83 percent) than hypertensive (8.50 ± 1.11 percent) and alcoholic (10.77 ± 2.09 percent) samples (P < 0.005 for both). The collagen III/I ratio in all samples from dilated cardiomyopathy patients was higher compared to that in controls (0.29 ± 0.04, P < 0.05) but was the same in the samples from idiopathic (0.77 ± 0.07), hypertensive (0.75 ± 0.07), and alcoholic (0.81 ± 0.16) dilated cardiomyopathy groups. Because of the different physical properties of the types of collagen, the higher III/I ratio may contribute to progressive ventricular dilation and dysfunction in dilated cardiomyopathy patients.

O papel do acúmulo de colágeno no interstício miocárdico na sobrevida dos pacientes com cardiomiopatia dilatada idiopática e chagásica / The role of storage of interstitial myocardial collagen on the overlife rate of patients with idiopathic and chagasic dilated cardiomyopathy

OBJETIVO: Avaliar a correlação entre um marcador estrutural do miocárdio e a sobrevida dos pacientes com cardiomiopatia dilatada. MÉTODOS: Mediante realização da biópsia endomiocárdica e exame ecocardiográfico foram estudados 9 indivíduos sem doença estrutural miocárdica (controle) e 45 pacientes com cardiomiopatia dilatada grave de etiologia idiopática (MCDI) e chagásica (MCDC). Foi analisada a correlação entre a quantidade de colágeno miocárdico intersticial (FVCI) e a sobrevida desses pacientes, se a FVCI diferia entre as etiologias, e se a fibrose interferia na função e geometria do miocárdio. RESULTADOS: Foi observado que a FVCI foi 15 vezes maior nos cardiomiopatas em relação ao grupo-controle, mas não diferiu em relação às MCDI e MCDC (*p < 0,001). Não houve correlação da FCVI com a sobrevida dos pacientes com cardiomiopatias (MCDI p = 0,249 e na MCDC p = 0,587) e apenas na MCDI a fração de ejeção do ventrículo esquerdo teve correlação com a FVCI. O diâmetro diastólico final do ventrículo esquerdo não se correlacionou com a FCVI nas duas etiologias. CONCLUSÃO: A fibrose miocárdica não diferiu entre as duas etiologias, não se correlacionou com o prognóstico das MCDC e MCDI e apenas na MCDI ela se correlacionou com a FEVE.

OBJECTIVE: To find out whether there is a correlation between a myocardial structural marker and the overlife rate of patients with dilated cardiomyopathy. METHODS: Using endomyocardial biopsy and 2D-echocardiogram, we studied nine patients with no changes in myocardial structure (control) and 45 patients with severe dilated cardiomyopathy of idiopathic etiology (IDCM) and of Chagasic etiology (CDCM). We analyzed the correlation between the quantity of interstitial myocardial collagen (ICVF) and the overlife rates of these patients. We also evaluated the difference in ICVF between these groups and whether fibrosis interfered on the geometry and function of the myocardium. RESULTS: We observed that ICVF was 15 times higher in cardiomyopathy patients than in the control group, but there was no difference in ICVF between CDCM and IDCM (*p < 0.001) patients. There was no correlation between ICVF and the overlife rate in cardiomyopathy patients (IDCM p = 0.249, and CDCM p = 0.587). We observed a significant correlation between ICVF and left ventricular ejection fraction (LVEF) only for IDCM. There was no correlation between ICVF and left ventricular diastolic diameter in either etiology. CONCLUSION: There was no difference in myocardial fibrosis between patients with CDCM or IDCM, and there was no correlation between fibrosis and the prognosis either for IDCM or CDCM. There was a correlation between myocardial fibrosis and LVEF only for IDCM.

The expression of dystrophin in human viral myocarditis and dilated cardiomyopathy / 法医学杂志

OBJECTIVE@#In order to improve the accuracy and reliability in sudden cardiac death, the pathogenesis and relationship between the viral myocarditis and dilated cardiomyopathy were investigated.@*METHODS@#Improved immunohistochemical technique was adopted to detect the expression of the dystrophin in myocardium from 25 viral myocarditis, 28 dilated cardiomyopathy and 17 control cases including normal, coronary atherosclerotic heart disease and hypertension heart disease as control.@*RESULTS@#The positive rate of dystrophin protein expression in control group was 100%, that in viral myocarditis was 88%, and that in dilated cardiomyopathy was 57%, There were significant differences among three groups (P<0.05), and the correlation between viral myocarditis and dilated cardiomyopathy group (r = -0.526)were also found.@*CONCLUSION@#The myocardial cytoskeletal protein is disrupted in viral myocarditis and dilated cardiomyopathy, and the dystrophin protein may be involved in the pathogenesis of viral myocarditis and dilated cardiomyopathy. The viral infect and impair heart functions by cleaving host dystrophin proteins may ultimately contributes to the viral myocarditis to the converting from dilated cardiomyopathy.

Assessment of myocardial metaiodobenzylguanidine uptake and its relation to left ventricular systolic and diastolic functional parameters in dilated cardiomyopathy

The purpose of this study was to assess the relation between myocardial metaiodobenzylguanidine (MIBG) uptake and left ventricular systolic and diastolic functional parameters, both of which are known as predictors of prognosis in patients with dilated cardiomyopathy. Echocardiography and iodine-123-MIBG myocardial scintigraphy were performed in 35 patients of dilated cardiomyopathy with normal sinus rhythm. Mean myocardial MIBG uptake in the patient group at early and delayed images were significantly lower than those in normal control subjects (10.6 +/- 1.1, 9.8 +/- 1.2 vs 12.4 +/- 1.0, 12.1 +/- 1.0, p 0.05). There were no significant correlations between myocardial MIBG uptake, expressed as the ratio of heart/mediastinum MIBG activity at delayed image, and left ventricular systolic and diastolic functional parameters ?left ventricular ejection fraction, left ventricular end-diastolic dimension, peak velocity of early diastolic filling (E velocity), deceleration time of E wave, cardiac output, left ventricular end-diastolic pressure?. In conclusion, the myocardial uptake of MIBG is decreased in patients with dilated cardiomyopathy assessed by iodine-123-MIBG myocardial scintigraphy. There were, however, no significant correlations between myocardial MIBG uptake and left ventricular systolic and diastolic functional parameters derived from echocardiography.