Plasma metabolic profiling of patients with tetralogy of fallot.

BACKGROUND: Tetralogy of Fallot (TOF) is a common congenital heart disease with high mortality. However, the medical imageology and liquidbiopsy techniques present certain limitations. Thus, this study investigated the plasma metabolic profiles to distinguish key metabolites for early diagnosis of TOF. METHODS: In total, 69 patients with TOF and 43 normal controls were enrolled for targeted metabolomics based on liquid chromatography-tandem mass spectroscopy (LC-MS/MS). Absolute quantification of metabolites was performed using our standard database. The differentially expressed metabolites (DEMs) were screened by fold change (FC), VIP value and pearson correlation coefficient of OPLS-DA model. Receiver operating characteristic curve (ROC) was used to evaluate predictive ability of DEMs. RESULTS: Different metabolic profiles were presented between TOF and Normal.The pathway analysis showed that significantly changed metabolites were enriched in nicotinamide and purine metabolism. Many intermediatesproductof purine and amido acid were higher in TOF than in Normal group, while energy substrates and electron carriers were lower in TOF than in Normal group. ROC analysis revealed a high diagnostic value of plasma FAD for differentiating TOF from Normal (AUC = 1). CONCLUSION: Our study quantitatively characterized plasma metabolites in patients with TOF and may help to develop reliable biomarkers that contribute to the early TOF screening.

Influencing factors of prognosis in children with pulmonary atresia with intact ventricle septum after transthoracic balloon dilation of pulmonary valve and construction of a nomograph prediction model.

This study aimed to identify factors that affect the prognosis of children with pulmonary valve atresia and intact ventricular septum treated with transthoracic balloon dilation of the pulmonary valve. The study included 148 participants who were followed up for 5 years. Of these, 10 died, while 138 survived. Independent sample t-test and χ2 test were used to analyze clinical data of children in the death and survival groups. It was found that height, weight, body surface area, arterial oxygen saturation, degree of tricuspid regurgitation, pulmonary valve cross valve pressure difference, ICU length of stay, length of stay, reoperation intervention, and complications were statistically significant (P<0.05). ROC curve analysis of the measurement indicators with statistically significant differences showed that height, weight, body surface area, arterial oxygen saturation, ICU length of stay, and length of stay had AUCs ranging from 0.723 to 0.870. Logistic regression analysis revealed that the degree of tricuspid regurgitation, pulmonary valve cross valvular pressure difference, ICU length of stay, reoperation intervention, and complications were independent risk factors that affect the prognosis of patients with PA/IVS undergoing transthoracic balloon dilation of pulmonary valve. The study proposed a nomogram prediction model using R language software 4.0 "rms" package, which was validated using calibration curve and decision curve. The model had a C-index of 0.667 (95% CI: 0.643-0.786) and high degree of fit. This study provides clinicians with a prediction model to identify children with poor prognosis after treatment with transpulmonary valve balloon dilatation. .

Residual or recurrent obstruction after septal myectomy in young children and infants with hypertrophic cardiomyopathy: cohort study.

BACKGROUND: The outcomes after septal myectomy in young children and infants with hypertrophic obstructive cardiomyopathy (HOCM) are not clear. The study sought to report the outcomes after septal myectomy in young children and infants and identify the mechanisms of residual or recurrent obstruction after surgery. METHODS: The authors performed an observational cohort study of children and infants under the age of 14 who underwent septal myectomy for HCOM from January 2013 to December 2020. Mean follow-up among 94.3% ( n =50) of hospital survivors was 42.09±24.38 months. RESULTS: In total, 56 children and infants [mean (SD) age, 5.38 (3.78) years; 29 (58.1%) were male] underwent septal myectomy for HOCM. Cumulative survival was 100, 96.6, 93.0, and 81.4% at 1, 3, 5, and 7 years, respectively, among hospital survivors. The incidence of residual and recurrent obstruction was 14.3% (8/56) and 13.0% (6/46), respectively. The mechanisms of residual obstruction were identified as subaortic obstruction caused by inadequacy of previous septal excision in two patients, midventricular obstruction caused by inadequacy of septal excision in five patients, and untreated abnormal papillary muscles in one patient. Recurrent obstruction was caused by isolated midventricular obstruction ( n =4) and newly emerged systolic anterior motion (SAM)-related subaortic obstruction combining abnormal mitral valve apparatus ( n =2). Residual or recurrent obstruction was associated with age less than 2 years at surgery (OR=6.157, 95% CI: 1.487-25.487, P =0.012) and biventricular outflow obstruction (OR=6.139, 95% CI: 1.292-29.172, P =0.022). Recurrent obstruction was associated with age less than 2 years at surgery (OR=6.976, 95% CI: 1.233-39.466, P =0.028). CONCLUSIONS: Septal myectomy is still effective and safe in young children and infants. The rate of residual or recurrent obstruction with diverse causes is relatively high, which is more likely to occur in children aged less than 2 years at surgery and those with biventricular obstruction.

Two-Stage Arterial Switch for Transposition of the Great Vessels in Older Children.

BACKGROUND: This study investigated a 2-stage arterial switch operation (ASO) to treat transposition of the great arteries (TGA) with intact ventricular septum (TGA-IVS) in late referral patients. METHODS: We retrospectively analyzed patients with TGA-IVS or TGA with restricted ventricular septal defects who had undergone 2-stage ASO at our institution from February 2007 to August 2018. Included were 41 patients: 21 (51.2%) who had undergone long-term 2-stage ASO and 20 (48.8%) who had undergone rapid 2-stage ASO. RESULTS: The long-term 2-stage group was older at ASO (3.5 vs 25 months; P < .001). Results were more satisfactory in the long-term group than in the rapid group for intensive care unit time (P = .004), mechanical ventilation time (P = .004), and length of stay (P = .007). No in-hospital death occurred in the long-term group, and the postoperative course was more manageable in the long-term group than in the rapid group. However, the risk of significant neoaortic regurgitation was lower in the rapid group, which also had a better left ventricular ejection fraction. CONCLUSIONS: The long-term group achieved better early-term outcomes than the rapid group. However, a high risk of neoaortic regurgitation and myocardial dysfunction was also noted.

Metabolic profile of heart tissue in cyanotic congenital heart disease.

BACKGROUND: Cyanotic congenital heart disease (CCHD) is one of the most common birth anomalies, in which chronic hypoxia is the basic pathophysiological process. METHODS: To investigate the heart's metabolic remodeling to hypoxia, we performed an untargeted metabolomic analysis of cardiac tissue from 20 CCHD patients and 15 patients with acyanotic congenital heart disease (ACHD). RESULTS: A total of 71 (63%) metabolites from 113 detected substances in cardiac tissue differed between the CCHD and ACHD groups. A partial least squares discriminant analysis showed separation between the CCHD and ACHD groups. A pathway enrichment analysis revealed that the most enriched metabolic pathways were amino acid metabolism and energy metabolism. Eleven amino acids were increased in CCHD patients, indicating that protein synthesis was down-regulated. Most of the metabolites in Krebs circle were increased in CCHD patients, suggesting down regulation of aerobic energy metabolism. Hierarchical cluster analysis showed that nicotinamide adenine dinucleotide (NAD) was clustered with Krebs cycle related substrates and its level was significantly higher in CCHD than that in ACHD patients. These analyses suggest that NAD might play an important role in response to hypoxia in CCHD patients. CONCLUSION: Our data showed a significantly different metabolic profile in CCHD patients compared to ACHD patients, including reduced protein synthesis and aerobic energy production, and the increased level of NAD in the myocardium may be a response mechanism to hypoxia.