Echocardiographic manifestations of mitochondrial disease with GTPBP3 gene mutations: A case report.

RATIONALE: Mitochondrial diseases are a group of disorders in which mutations in mitochondrial DNA or nuclear DNA lead to dysfunctional oxidative phosphorylation of cells, with mutations in mitochondrial DNA being the most common cause of mitochondrial disease, and mutations in nuclear genes being rarely reported. The echocardiographic findings of mitochondrial diseases with nuclear gene mutations in children's hearts are even rarer. Even more valuable is that we followed up the patient for 4 years and dynamically observed the cardiac echocardiographic manifestations of mitochondrial disease. Provide ideas for the clinical diagnosis and prognosis of mitochondrial diseases. PATIENT CONCERNS: The patient was seen in the pediatric outpatient clinic for poor strength and mental retardation. echocardiography: mild left ventricular (LV) enlargement and LV wall thickening. Nuclear genetic testing: uanosine triphosphate binding protein 3 (GTPBP3) gene mutation. Diagnosis of mitochondrial disease. DIAGNOSES: Mitochondrial disease with GTPBP3 gene mutations. OUTCOMES: After receiving drug treatment, the patient exhibited a reduction in lactate levels, an enhanced physical condition compared to prior assessments, and demonstrated average intellectual development. LESSONS SUBSECTIONS: For echocardiographic indications of LV wall thickening and LV enlargement, one needs to be alert to the possibility of hereditary cardiomyopathy, especially in children.

Echocardiographic Measurements in Normal Chinese Adults (EMINCA) II focusing on left ventricular and left atrial size and function by three-dimensional echocardiography.

Current guidelines encourage large studies in a diverse population to establish normal reference ranges for three-dimensional (3D) echocardiography for different ethnic groups. This study was designed to establish the normal values of 3D-left ventricular (LV) and left atrial (LA) volume and function in a nationwide, population-based cohort of healthy Han Chinese adults. A total of 1117 healthy volunteers aged 18-89 years were enrolled from 28 collaborating laboratories in China. Two sets of 3D echocardiographic instruments were used, and full-volume echocardiographic images were recorded and transmitted to a core laboratory for image analysis with a vendor-independent off-line workstation. Finally, 866 volunteers (mean age of 48.4 years, 402 men) were qualified for final analysis. Most parameters exhibited substantial differences between different sex and age groups, even after indexation by body surface area. The normal ranges of 3D-LV and 3D-LA volume and function differed from those recommended by the American Society of Echocardiography and the European Association of Cardiovascular Imaging guidelines, presented by the World Alliance Societies of Echocardiography (WASE) study, and from the 2D values in the EMINCA study. The normal reference values of 3D echocardiography-derived LV and LA volume and function were established for the first time in healthy Han Chinese adults. Normal ranges of 3D-LV and 3D-LA echocardiographic measurements stratified with sex, age, and race should be recommended for clinical applications.

Right ventricular volume and function by three-dimensional echocardiography: results of the echocardiographic measurements in normal Chinese adults (EMINCA) II.

Three-dimensional (3D) echocardiography is an emerging technique for assessing right ventricular (RV) volume and function, but 3D-RV normal values from a large Chinese population are still lacking. The aim of the present study was to establish normal values of 3D-RV volume and function in healthy Chinese volunteers. A total of 1117 Han Chinese volunteers from 28 laboratories in 20 provinces of China were enrolled, and 3D-RV images of 747 volunteers with optimal image quality were ultimately analyzed by a core laboratory. Both vendor-dependent and vendor-independent software platforms were used to analyze the 3D-RV images. We found that men had larger RV volumes than women did in the whole population, even after indexing to body surface area, and older individuals had smaller RV volumes. The normal RV volume was significantly smaller than that recommended by the American Society of Echocardiography/European Association of Cardiovascular Imaging guidelines in both sexes. There were significant differences in 3D-RV measurements between the two vendor ultrasound systems and the different software platforms. The echocardiographic measurements in normal Chinese adults II study revealed normal 3D-RV volume and function in a large Chinese population, and there were significant differences between the sexes, ages, races, and vendor groups. Thus, normal 3D-RV values should be stratified by sex, age, race, and vendor.

Predicting Endothelium-Dependent Diastolic Function (FMD) and Its Correlation with the Degree of Coronary Artery Disease (CAD) and Plaque Vulnerability for Cardiovascular Events.

Objective: This study aims to investigate the correlation between vascular endothelium-dependent diastolic function (FMD) and the degree of coronary artery disease (CAD), plaque vulnerability, and its predictive value for cardiovascular events. Methods: Initially, patients (n=100) who were admitted from January 2020 to January 2021 and intended to undergo percutaneous coronary intervention (PCI) were selected. Further, FMD in all patients was determined before the procedure and divided into a high-FMD group (≥4.2%) and a low-FMD group (<4.2%). Further, the data of two groups, including general information, coronary artery lesions, and plaque fibrous cap, were compared. Finally, the relationship between FMD and the degree of coronary artery lesions and plaque vulnerability was analyzed. Results: No significant differences were observed concerning general information, number of coronary arteries-associated branches, lesion type, involvement of the left main stem (LM), the proportion of chronic occluded lesions (CTO), and lipid pool angle between the low-FMD group and the high-FMD group (P > 0.05). Nevertheless, the degree of stenosis of the lesions in the low-FMD group was significantly higher than in the high-FMD group (P < 0.05). In addition, the thickness of the fibrous cap was considerably lower than that in the high-FMD group (P < 0.05). Moreover, the incidence rate of TCFA was significantly higher than the high-FMD group (P < 0.05). The correlation analysis showed that FMD was significantly negatively correlated with the degree of coronary artery lesion stenosis and TCFA (P < 0.05) and positively correlated with the fibrous cap thickness (P < 0.05). Conclusion: Overall, a negative correlation between FMD and the degree of coronary stenosis, plaque vulnerability, and a high predictive value for post-PCI cardiovascular events suggested that FMD could be a critical diagnostic marker for CAD.

Recent advances in biocatalytic C-N bond-forming reactions.

Molecules containing C-N bonds are of paramount importance in a diverse array of organic-based materials, natural products, pharmaceutical compounds, and agricultural chemicals. Biocatalytic C-N bond-forming reactions represent powerful strategies for producing these valuable targets, and their significance in the field of synthetic chemistry has steadily increased over the past decade. In this review, we provide a concise overview of recent advancements in the development of C-N bond-forming enzymes, with a particular emphasis on the inherent chemistry involved in these enzymatic processes. Overall, these enzymatic systems have proven their potential in addressing long-standing challenges in traditional small-molecule catalysis.

Effects of Cavitation from Extracorporeal Shock Wave Combined with Sulfur Hexafluoride Microbubble on Myocardial Ultrastructure in Rats.

BACKGROUND: In the present study, the effects of extracorporeal cardiac shock waves combined with different concentrations of sulfur hexafluoride ultrasound microbubbles on myocardial ultrastructure in rats were observed. METHODS: Thirty-six rats were randomly divided into 6 groups: control group (N), extracorporeal cardiac shock wave group, and combined group, i.e., extracorporeal cardiac shock wave combined with different concentrations of sulfur hexafluoride microbubble (0.225 mL/kg/min, 0.45 mL/kg/min, 0.9 mL/kg/min, 1.8 mL/kg/min). The combination of extracorporeal cardiac shock wave combined with sulfur hexafluoride microbubbles of different concentrations had no significant effect on hemodynamic indexes and left ventricular function in rats. RESULTS: There were significant differences in cardiac troponin I (cTnI) and nitricoxide among different groups. Histopathology showed that inflammatory cells infiltrated in the shock wave+microbubble 0.9 and shock wave+microbubble 1.8 groups. The myocardial ultrastructural injury score of shock wave+microbubble1.8 group was significantly higher than that of the N group, shock wave group, shock wave+microbubble 0.225 group, and shock wave+microbubble 0.45 group. The score of shock wave+microbubble 0.9 group was higher than that of the control group (P=.009). Western blot results showed that the expression of vascular endothelial growth factor and endothelial nitricoxide synthase (eNOS) protein in the rats treated with extracorporeal cardiac shock wave combined with sulfur hexafluoride microbubbles of different concentrations was higher than that in the N group and shock wave group, with shock wave+microbubble 0.45 group having the strongest expression. CONCLUSION: Myocardial ultrastructure damage occurs when high concentrations of sulfur hexafluoride microbubbles are present, but a proper concentration of sulfur hexafluoride microbubbles could promote the cavitation effect of extracorporeal cardiac shock waves. Thus combination therapy may become a new paradigm in coronary heart disease, especially contributing to the treatment of refractory angina. Combination therapy may change coronary heart disease treatment, especially for refractory angina.

Effect of radiofrequency catheter ablation on left atrial structure and function in patients with different types of atrial fibrillation.

Radiofrequency catheter ablation (RFCA) is widely used to treat atrial fibrillation (AF), but its effect on left atrial (LA) remodeling in patients with AF is not completely clarified. Few studies have reported the changes in structure and function of the left atrium in patients with different types of AF after RFCA. To analyze the effect of RFCA on the LA structure and function in patients with nonvalvular paroxysmal AF, persistent AF and long-standing persistent AF (LSPAF). RFCA was performed in 180 patients with paroxysmal AF, persistent AF and LSPAF. The changes of LA structure and function in echocardiogram and speckle-tracking echocardiography findings were compared before the procedure, and at 1, 2, 3, 4 weeks, and 2, 3, 6, and 9-12 months after the procedure. There were 60 patients in the paroxysmal AF group, 60 in the persistent AF group and 60 patients in LSPAF group. The pre-procedure LA diameter and volume were smaller in the paroxysmal AF group than persistent AF and LSPAF group. There was no significant change of in the LA structure and function in the paroxysmal AF group within 1 year. In the persistent AF and LSPAF groups, LA structure (anteroposterior diameter, LA volume) significantly decreased, but remained larger than that in paroxysmal AF group. In persistent and LSPAF, function (LA ejection fraction, strain, strain rate) increased significantly within 1 week, then gradually increased. RFCA improved the LA structure and function and resulted in heart reverse remodeling, especially for persistent AF and LSPAF.

Comparison of cardiac function between left bundle branch pacing and right ventricular outflow tract septal pacing in the short-term: A registered controlled clinical trial.

BACKGROUND: The novel method of left bundle branch pacing (LBBP) has been reported to produce a narrower QRS duration and lower pacing threshold than right ventricular outflow tract septal pacing (RVOP). However, whether LBBP is superior to traditional RVOP in improving cardiac function still lacks sufficient evidence. OBJECTIVE: The purpose of this study was to compare the changes in cardiac function (especially in brain natriuretic peptide (BNP)levels, left atrial function, and left ventricular diastolic function) within 7 days between LBBP and RVOP. METHODS AND RESULTS: A single-centre prospective controlled registered clinical study was conducted with 84 patients with bradycardia indications. Forty-two patients underwent RVOP, and 42 patients underwent LBBP. The pacemaker parameters were adjusted so that the ventricular ratio was over 90% and rate was 60-70 bpm. The changes in BNP levels and echocardiogram and speckle-tracking echocardiagraphy findings were compared between the two groups before and within 7 days after implantation: (1) BNP: there was no significant difference in BNP level between the two groups before and 1 day after implantation, while the LBBP group had significantly lower levels than the RVOP group on day 7 [(65.15 ± 56.96)pg/ml vs.(129.82 ± 101.92)pg/ml, P < 0.001]. (2) Cardiac echocardiography: the e' value of the LBBP group was higher than that of the RVOP group 7 days after implantation[(6.39 ± 2.65) cm/s vs. (5.45 ± 1.35)cm/s, P = 0.049]. The E/e' and peak E-wave velocity in the LBBP group decreased significantly after 7 days [16.57 ± 6.55 vs. 12.75 ± 5.16 P = 0.043, (88.6 ± 24.37)cm/s vs. (75.68 ± 28.10)cm/s P = 0.030]; in contrast, there were no significant changes in the RVOP group [14.13 ± 3.85 vs.14.10 ± 4.85 P = 0.50, (77.33 ± 21.14)cm/s vs. (74.45 ± 23.03)cm/s P = 0.56). (3)Speckle-tracking echocardiagraphy: there was no significant difference in left atrial strain or the strain rate between the LBBP and RVOP groups，but the absolute values of left atrial strain and strain rate in the LBBP group increased, while those in the RVOP group decreased. CONCLUSION: This study demonstrates that compared to RVOP, LBBP can increase left ventricular early diastolic function, improve BNP levels, and has a tendency to increase left atrial myocardial elasticity and left atrial strain capacity in the short term in pacemaker-dependent patients.

Left atrial function, inflammation, and prothrombotic response after radiofrequency ablation for atrial fibrillation.

BACKGROUND: The conversion of atrial fibrillation (AF) to sinus rhythm is associated with transient dysfunction of the left atrium (LA). This study aimed to investigate the time course of LA function and inflammation after radiofrequency (RF) ablation for paroxysmal AF. METHODS: Fifty-three patients with paroxysmal AF undergoing RF ablation were recruited. White blood cells were counted and high-sensitivity C-reactive protein (hs-CRP), fibrinogen, and D-dimer levels were measured. LA emptying fraction, strain, and strain rate were evaluated before RF ablation and at 1, 2, 3, and 4 weeks and 2 and 3 months after ablation using conventional Doppler echocardiography and two-dimensional speckle-tracking echocardiography. RESULTS: LA emptying fraction sharply decreased at day 7 after ablation and then slowly increased (p < 0.05) and returned to the baseline value at day 28. LA strain and strain rate values sharply decreased at day 7 after the procedure and then slowly increased (p < 0.05). A significant correlation between hs-CRP level and LA emptying fraction was found at day 7. CONCLUSION: Reduced LA function and increased prothrombotic tendency were found at ∼1 week after AF ablation for paroxysmal AF. Therefore, monitoring the time and degree of anticoagulation after ablation for paroxysmal AF might effectively prevent thromboembolic events and reduce anticoagulant cost and bleeding risk.

Atorvastatin can ameliorate left atrial stunning induced by radiofrequency ablation for atrial fibrillation.

The objective of this study was to study the functional changes of the left atrium after radiofrequency ablation treatment for atrial fibrillation and the therapeutic effect of atorvastatin. Fifty-eight patients undergoing radiofrequency ablation for atrial fibrillation were randomly divided into non-atorvastatin group and atorvastatin group. Patients in the atorvastatin group were treated with atorvastatin 20 mg p.o. per night in addition to the conventional treatment of atrial fibrillation; patients in the non-atorvastatin group received conventional treatment of atrial fibrillation only. Echocardiography was performed before radiofrequency ablation operation and 1 week, 2 weeks, 3 weeks, and 4 weeks after operation. Two-dimensional ultrasound speckle tracking imaging system was used to measure the structural indexes of the left atrium. Results indicated that there was no significant change for indexes representing the structural status of the left atrium within a month after radiofrequency ablation (P > 0.05); however, there were significant changes for indexes representing the functional status of the left atrium. There were also significant changes in indexes reflecting left atrial strain status: the S and SRs of atorvastatin group were higher than those of non-atorvastatin group (P < 0.05). In summary, atorvastatin could improve left atrial function and shorten the duration of atrial stunning after radiofrequency ablation of atrial fibrillation.

Additive beneficial effects of amlodipine and atorvastatin in reversing advanced cardiac hypertrophy in elderly spontaneously hypertensive rats.

1. Additive beneficial effects on cardiovascular disease have been reported for amlodipine and atorvastatin. However, it is still unclear whether the combination of amlodipine and atorvastatin has additive beneficial effects on the regression of advanced cardiac hypertrophy in hypertension. In the present study, the effects of the drug combination on advanced cardiac hypertrophy were investigated in elderly spontaneously hypertensive rats (SHR). 2. Elderly SHR (36 weeks old) were randomly allocated into four groups of 12: (i) a vehicle-treated control group; (ii) an amlodipine (10 mg/kg per day)-treated group; (iii) an atorvastatin (10 mg/kg per day)-treated group; and (iv) a group treated with a combination of amlodipine and atorvastatin (both at 10 mg/kg per day). Drugs were administered by oral gavage every morning for a period of 12 weeks before hearts were harvested for analysis. 3. Combined administration of amlodipine and atorvastatin significantly suppressed cardiomyocyte hypertrophy, interstitial fibrosis and upregulation of hypertrophic and profibrotic genes, and also improved left ventricular diastolic dysfunction to a greater extent than did amlodipine monotherapy. Further beneficial effects of combination therapy on advanced cardiac hypertrophy were associated with a greater reduction of NADPH oxidase-mediated increases in cardiac reactive oxygen species (ROS), rather than decreased blood pressure and serum cholesterol levels. 4. To elucidate the underlying molecular mechanisms, we examined cardiovascular NADPH oxidase subunits and found that amlodipine clearly attenuated the expression of p47(phox) and p40(phox) and slightly but significantly reduced p22(phox) and Rac-1 levels in heart tissue. Combination treatment with amlodipine plus atorvastatin led to a further reduction in p22(phox), p47(phox) and Rac-1 protein levels compared with amlodipine alone. 5. In conclusion, combined amlodipine and atorvastatin treatment has a greater beneficial effect on advanced cardiac hypertrophy compared with amlodipine monotherapy. The benefits are likely to be related to the additive effects of the drugs on the suppression of NADPH oxidase-mediated ROS generation.