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Sodium glucose cotransporter-2 (SGLT-2) inhibitors have been widespread in patients with heart failure; however, there is little information regarding its feasibility and safety among patients after the Fontan procedure. We presented five adults after the Fontan procedure who were treated with SGLT-2 inhibitors. All patients reduced oedema and/or pleural effusion despite other conjunct medications were ineffective. Although we did not measure the urine volume in all patients, all patients themselves reported an increase in urinary output after the administration of a SGLT-2 inhibitor. In addition, administration of a SGLT-2 inhibitor resulted in weight loss (4/5), an increase in systemic oxygen saturation (4/5), an increase in serum albumin level (4/5), an increase in estimated glomerular filtration ratio (4/5), and a decrease in plasma brain natriuretic peptide level (4/5). Our case series supported the feasibility and safety of SGLT-2 inhibitors in patients with Fontan circulatory failure, although the exact changes in urinary output were unknown in all patients. Further investigation will be required to explore a diuretic effect by SGLT-2 in patients after the Fontan procedure.

Although the molecular mechanisms underlying congenital heart disease (CHD) remain poorly understood, recent advances in genetic analysis have facilitated the exploration of causative genes for CHD. We reported that the pathogenic variant c.1617del of TMEM260 , which encodes a transmembrane protein, is highly associated with CHD, specifically persistent truncus arteriosus (PTA), the most severe cardiac outflow tract (OFT) defect. Using whole-exome sequencing, the c.1617del variant was identified in two siblings with PTA in a Japanese family and in three of the 26 DNAs obtained from Japanese individuals with PTA. The c.1617del of TMEM260 has been found only in East Asians, especially Japanese and Korean populations, and the frequency of this variant in PTA is estimated to be next to that of the 22q11.2 deletion, the most well-known genetic cause of PTA. Phenotype of patients with c.1617del appears to be predominantly in the heart, although TMEM260 is responsible for structural heart defects and renal anomalies syndrome (SHDRA). The mouse TMEM260 variant (p.W535Cfs*56), synonymous with the human variant (p.W539Cfs*9), exhibited truncation and downregulation by western blotting, and aggregation by immunocytochemistry. In situ hybridization demonstrated that Tmem260 is expressed ubiquitously during embryogenesis, including in the development of cardiac OFT implicated in PTA. This expression may be regulated by a ~ 0.8 kb genomic region in intron 3 of Tmem260 that includes multiple highly conserved binding sites for essential cardiac transcription factors, thus revealing that the c.1617del variant of TMEM260 is the major single-gene variant responsible for PTA in the Japanese population.

Objectives:The aim of this study is to establish a guidance for device retrieval based on comprehensive bench tests.Background:Device embolisation remains a major complication in transcatheter closure of atrial septal defect and patent ductus arteriosus. Although percutaneous retrieval is feasible in the majority of cases, surgical retrieval may be required in complicated circumstances. However, the methods of transcatheter device retrieval have not been completely established.Methods:Bench tests of device retrieval were performed to verify the appropriate retrieval method according to device type/size. The devices used for testing were Amplatzer Septal Occluder (Abbott, Chicago, IL, United States of America), Figulla Flex II (Occlutech GmbH, Jena, Germany), Amplatzer Duct Occluder-I (Abbott), Amplatzer Duct Occluder-II (Abbott), and Amplatzer Vascular Plug-II (Abbott). The retrieval equipment constituted diagnostic catheters (multipurpose catheter and right Judkins catheter, 4-Fr or 5-Fr, Gadelius Medical, Tokyo, Japan), delivery sheath and cables for each device, Amplatz goose neck snares (Medtronic, Minneapolis, MN, United States of America), OSYPKA CATCHER (Osypka ag, Rheinfelden-Herten, Germany), and OSYPKA LASSOS (Osypka). We investigated the retrieval equipment and sheath sizes required for a successful retrieval procedure for variously sized devices.Results:For patent ductus arteriosus devices, the type of snare and the snaring position are considered important. For atrial septal defect devices, simple snare capture or a double-snare technique with a sufficiently large sheath is effective. Special care should be taken when using the OSYPKA CATCHER for device retrieval.Conclusions:The results of this study may assist in the selection of both capture devices and a retrieval sheath or a catheter for complete retrieval.

Noonan syndrome is characterized by short stature, facial dysmorphia and a wide spectrum of congenital heart defects 1 , 2 . Mutations of PTPN11 , KRAS and SOS1 in the RAS-MAPK pathway cause ∼60% of cases of Noonan syndrome 3 , 4 , 5 , 6 , 7 , 8 , 9 . However, the gene(s) responsible for the remainder are unknown. We have identified five different mutations in RAF1 in ten individuals with Noonan syndrome; those with any of four mutations causing changes in the CR2 domain of RAF1 had hypertrophic cardiomyopathy (HCM), whereas affected individuals with mutations leading to changes in the CR3 domain did not. Cells transfected with constructs containing Noonan syndrome–associated RAF1 mutations showed increased in vitro kinase and ERK activation, and zebrafish embryos with morpholino knockdown of raf1 demonstrated the need for raf1 for the development of normal myocardial structure and function. Thus, our findings implicate RAF1 gain-of-function mutations as a causative agent of a human developmental disorder, representing a new genetic mechanism for the activation of the MAPK pathway.

It is controversial whether children with isolated aortic valvular stenosis (vAS) initially undergo transcatheter or surgical aortic valvuloplasty (BAV or SAV). This multicenter retrospective case–control study aimed to explore outcomes after BAV or SAV for pediatric vAS. We studied children (aged < 15 years) with vAS treated at 4 tertiary congenital heart centers, and compared the rates of survival, reintervention, and valve replacement between patients with BAV and SAV. A total of 73 subjects (BAV: N  = 52, SAV: N  = 21) were studied. Age and aortic annulus z-score at the first presentation were 85 (26–530) days and − 0.45 (− 1.51–0.59), respectively. During the follow-up period of 121 (47–185) months, rates of 10-year survival (BAV: 88% vs. SAV: 92%, P  = 0.477), reintervention (BAV: 58% vs. SAV: 31%, P  = 0.626), and prosthetic/autograft valve replacement (BAV: 21% vs. SAV: 19%, P  = 0.563) did not differ between the groups. Freedom from reintervention rate significantly correlated with aortic annulus z-score (hazard ratio [HR] 0.66, 95% confidence interval [CI] 0.49–0.88, P  = 0.005), and freedom from prosthetic/autograft valve replacement rate significantly correlated to the degree of aortic regurgitation after the first intervention (HR: 4.58, 95% CI 1.19–17.71, P  = 0.027). Propensity score-matched analysis ( N  = 16) did not show the differences in survival and reintervention rates between the groups. Long-term survival was acceptable, and the rates of freedom from reintervention and prosthetic/autograft valve replacement were comparable between children with vAS who underwent BAV and SAV.

We present the case of a 10-year-old boy with congenital complete atrioventricular block who had cardiac strangulation by an epicardial pacemaker lead placed during infancy. Coronary angiography and Tc 99m tetrofosmin myocardial perfusion scintigraphy suggested sub-clinical myocardial ischaemia.

Coronary anomalies encompass different conditions in terms of anomalous origin, coursing, and branching, which are occasionally associated with congenital heart disease. This study aimed to explore coronary anomalies associated with ventricular septal defect that was a stereotypical congenital heart disease. We retrospectively reviewed angiographic findings in patients with ventricular septal defect who required corrective surgery, and identified coronary abnormalities, including anomalous origin, coursing, and branching of coronary arteries based on angiography. We studied the prevalence and types of coronary anomalies among them. A total of 998 patients with ventricular septal defect was studied. Age and weight were 2.0 (2.1–15.2) months and 5.7 (4.1–8.7) kg, respectively. There were 115 patients (12%) with syndrome or genetic disorder, and 34 patients (3%) with extracardiac major organ anomalies. The overall prevalence of coronary anomalies was 6.2%. All coronary anomalies were anomalous origin and coursing, among 3 patients accompanied anomalous intrinsic coronary anatomy. Originating within aortic root above the Valsalva sinus was the most common coronary anomaly. Coronary anomalies were independently correlated with bicuspid aortic valve (odds ratio [OR]: 8.02, 95% confidence interval [CI]: 2.34–23.4) and persistent left superior caval vein (OR: 5.02, 95% CI: 1.93–11.7). We showed the possibility that minor cardiac variants, such as bicuspid aortic valve and persistent left superior caval vein, contribute to higher prevalence of coronary anomalies in patients with ventricular septal defect.

Dilated cardiomyopathy (DCM) is a progressive myocardial disorder characterized by impaired cardiac contraction and ventricular dilation. However, some patients with DCM improve when experiencing left ventricular reverse remodeling (LVRR). Currently, the detailed association between genotypes and clinical outcomes, including LVRR, particularly among children, remains uncertain. Pediatric patients with DCM from multiple Japanese institutions recorded between 2014 and 2023 were enrolled. We identified their DCM-related genes and explored the association between gene variants and clinical outcomes, including LVRR. We included 123 pediatric patients (62 males; median age: 8 [1–51] months) and found 50 pathogenic variants in 45 (35.0%) of them. The most identified gene was MYH7 (14.0%), followed by RYR2 (12.0%) and TPM1 (8.0%). LVRR was achieved in 47.5% of these patients. The left ventricular ejection fraction remained unchanged (31.4% to 39.8%, P  = 0.1913) in patients with sarcomere gene variants and in those with non-sarcomere gene variants (33.4% to 47.8%, P  = 0.0522) but significantly increased in those without gene variants (33.6% to 54.1%, P  < 0.0001). LVRR was not uniform across functional gene groups. Hence, an individualized gene-guided prediction approach may be adopted for children with DCM.

Background A left thoracotomy approach is anatomically appropriate for childhood aortic coarctation; however, the pediatric femoral arteriovenous diameters are too small for cardiopulmonary bypass cannulation. We aimed to determine the safety of a partial cardiopulmonary bypass through the main pulmonary artery and the descending aorta in pediatric aortic coarctation repair. Methods We retrospectively reviewed 10 patients who underwent coarctation repair under partial main pulmonary artery-to-descending aorta cardiopulmonary bypass with a left thoracotomy as the CPB group. During the same period, 16 cases of simple coarctation of the aorta repair, with end-to-end anastomosis through a left thoracotomy without partial CPB assistance, were included as the non-CPB group to evaluate the impact of partial CPB. Results The median age and weight at surgery of the CPB group were 3.1 years (range, 9 days to 17.9 years) and 14.0 (range, 2.8–40.7) kg, respectively. Indications for the partial cardiopulmonary bypass with overlap were as follows: age > 1 year ( n  = 7), mild aortic coarctation ( n  = 3), and predicted ischemic time > 30 min ( n  = 5). Coarctation repair using autologous tissue was performed in seven cases and graft replacement in three. The mean partial cardiopulmonary bypass time, descending aortic clamp time, and cardiopulmonary bypass flow rate were 73 ± 37 min, 57 ± 27 min, and 1.6 ± 0.2 L/min/m 2 , respectively. Urine output during descending aortic clamping was observed in most cases in the CPB group (mean: 9.1 ± 7.9 mL/kg/h), and the total intraoperative urine output was 3.2 ± 2.7 mL/kg/h and 1.2 ± 1.5 mL/kg/h in the CPB and non-CPB group, respectively ( p  = 0.020). The median ventilation time was 1 day (range, 0–15), and the intensive care unit stay duration was 4 days (range, 1–16) with no surgical deaths. No major complications, including paraplegia or recurrent coarctation, occurred postoperatively during a median observation period of 8.1 (range, 3.4–17.5) years in the CPB group. In contrast, reoperation with recurrent coarctation was observed in 2 cases in the non-CPB group ( p  = 0.37). Conclusions Partial cardiopulmonary bypass through the main pulmonary artery and descending aorta via a left thoracotomy is a safe and useful option for aortic coarctation repair in children.

Herein, we present the first case of dilated cardiomyopathy due to premature constriction of the ductus arteriosus. A fetal echocardiography showed narrowing in the ductus arteriosus, and colour Doppler flow mapping could not identify blood flow through the ductus. Neonatal echocardiography revealed a left ventricular dilated cardiomyopathy, and the cardiomyopathy had fully resolved at 6 months of age.