Status of adult outpatients with congenital heart disease in Japan: The Japanese Network of Cardiovascular Departments for Adult Congenital Heart Disease Registry.

Background: The Japanese Network of Cardiovascular Departments for Adult Congenital Heart Disease (JNCVD-ACHD) was founded in 2011 for the lifelong care of adult patients with congenital heart disease (ACHD patients). This network maintains the first Japanese ACHD registry.

Methods And Results: From 2011 to 2019, the JNCVD-ACHD registered 54 institutions providing specialized care for ACHD patients in 32 of the 47 prefectures in Japan.

Fetal case of rare association of hypoplastic left heart syndrome and absent atrial septum accompanied by mixed form of supracardiac total anomalous pulmonary venous connection.

Abnormal pulmonary venous flow patterns on fetal echocardiography and a nutmeg lung pattern on fetal magnetic resonance imaging are seen in patients with pulmonary venous stenosis. The association between these findings and the degree of pulmonary venous stenosis remains unknown. We report an extremely rare case of a fetus diagnosed with hypoplastic left heart syndrome complicated by an absent atrial septum and supracardiac total anomalous pulmonary venous connection with left pulmonary venous congestion.

A double-barrelled aorta with high aortic Arch.

A double-barrelled aorta was detected in a female newborn with 22q11.2 deletion syndrome. Double-barrelled aorta had been previously described as persistence of the fifth pharyngeal arch, but its existence continues to be debated.

Platelet count and abdominal dynamic CT are useful in predicting and screening for gastroesophageal varices after Fontan surgery.

Objective: Patients who undergo Fontan surgery for complex cardiac anomalies are prone to developing liver and gastrointestinal complications. In particular, gastroesophageal varices (GEVs) can occur, but their prevalence is unknown. We aimed to elucidate the occurrence of GEVs and the predicting parameters of GEVs in these patients.

Novel electrocardiographic criteria for short QT syndrome in children and adolescents.

Aims: Although shortening of the corrected QT interval (QTc) is a key finding in the diagnosis of short QT syndrome (SQTS), there may be overlap of the QTc between SQTS patients and normal subjects in childhood and adolescence. We aimed to investigate electrocardiographic findings for differentiation of SQTS patients.

Methods And Results: The SQTS group comprised 34 SQTS patients <20 years old, including 9 from our institutions and 25 from previous reports.

Absent pulmonary valve with tricuspid atresia/stenosis: literature review with new three long-term cases.

Absent pulmonary valve (APV) syndrome with tricuspid atresia or tricuspid stenosis (TA/TS) is an extremely rare malformation recently reported as a variant of APV with intact ventricular septum (VS). The condition, however, has univentricular physiology and unique structural and clinical features. The purpose of this study was to update the current knowledge about this condition by describing long-term outcomes of three new cases and reviewing the available literatures.

Assessing liver stiffness with conventional cut-off values overestimates liver fibrosis staging in patients who received the Fontan procedure.

Aim: Patients who undergo the Fontan procedure for complex congenital heart disease are prone to liver cirrhosis. Liver stiffness (LS) reflects liver fibrosis stage in patients with chronic viral hepatitis; however, its accuracy in predicting liver fibrosis stage in Fontan patients is controversial. We aimed to clarify the correlation between LS and liver fibrosis stage in Fontan patients.

A rare case of truncus arteriosus Van Praagh type A3: Prenatal diagnosis and postnatal management.

Truncus arteriosus (TrA) type A3, according to the Van Praagh (VP) classification, cannot be classified under the Collett and Edwards (C-E) system. In this rare anomaly, postnatal closure of the ductus arteriosus can cause unilateral pulmonary artery obstruction; hence, prenatal diagnosis and early confirmatory postnatal diagnosis are important. This case was referred to our hospital for suspected fetal heart disease at 29 weeks' gestation.

Efficacy and safety of everolimus in patients younger than 12 months with congenital subependymal giant cell astrocytoma.

Tuberous sclerosis complex (TSC) is a multisystem genetic disorder that activates mammalian target of rapamycin and produces tumor growth in several organs. We present five patients younger than 12 months who were diagnosed with TSC and treated with everolimus (EVL), after which congenital subependymal giant astrocytoma (cSEGA) promptly regressed in all patients. All patients achieved at least 50% reduction in the volume of cSEGA within 6 months.

Cardiac surgical strategy for extremely low-birthweight infants with pulmonary overcirculation.

Objectives: This study aimed to review the clinical outcomes of staged cardiac surgery in extremely low-birthweight infants with congenital heart disease and pulmonary overcirculation.

Methods: Six extremely low-birthweight infants with congenital heart disease and pulmonary overcirculation underwent staged cardiac surgery between 2005 and 2017. The median birthweight was 895 g (range 620-990 g), and the median gestational age was 28 weeks (range 23-31 weeks).

Three Cases of KCNT1 Mutations: Malignant Migrating Partial Seizures in Infancy with Massive Systemic to Pulmonary Collateral Arteries.

KCNT1 mutations are gain-of-function mutations in potassium channels resulting in severe infantile epilepsy. Herein we describe 3 infants with malignant migrating partial seizures with KCNT1 mutations accompanied by massive systemic to pulmonary collateral arteries with life-threatening hemoptysis and heart failure.

Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation.

Coffin-Siris syndrome (CSS) is characterized by growth deficiency, intellectual disability, microcephaly, dysmorphic features, and hypoplastic nails of the fifth fingers and/or toes. Variants in the genes encoding subunits of the BAF complex as well as in SOX11 encoding the transcriptional factor under the control of BAF complex are associated with CSS. We report a new patient with a novel SOX11 mutation.

Comparison between procalcitonin and C-reactive protein in predicting bacteremias and confounding factors: a case-control study.

Background: The detection of infectious bacteria in blood culture samples is important for diagnosis and treatment, but this requires 1-2 days at least, and is not adequate as a rapid test. Therefore, we have investigated the diagnostic ability and the optimal cutoff value of procalcitonin (PCT) and C-reactive protein (CRP) for predicting the bacteremias using receiver operating characteristic (ROC) curves and relative cumulative frequency distribution (RCD) curves.

Methods: A case-control study was performed in inpatients (852 subjects: 426 positive cultures and 426 negative cultures) from January 1 to December 31, 2014.

Feasibility and safety of transseptal puncture procedures for radiofrequency catheter ablation in small children weighing below 30 kg: single-centre experience.

Aims: Transseptal puncture (TSP) has become a common approach in catheter ablation of arrhythmia originating from the left atrium. In paediatric patients, however, TSP can be a challenge due to narrower access vessels and small left atrial size, and the safety of TSP in smaller children is yet to be understood. The purpose of this study was to retrospectively evaluate the feasibility and safety of TSP in children weighing below 30 kg.

Comparative usefulness of inflammatory markers to indicate bacterial infection-analyzed according to blood culture results and related clinical factors.

To assess relationships of inflammatory markers and 2 related clinical factors with blood culture results, we retrospectively investigated inpatients' blood culture and blood chemistry findings that were recorded from January to December 2014 using electronic medical records and analyzed the data of 852 subjects (426 culture-positive and 426 culture-negative). Results suggested that the risk of positive blood culture statistically increased as inflammatory marker levels and the number of related factors increased. Concerning the effectiveness of inflammatory markers, when the outcome definition was also changed for C-reactive protein (CRP), the odds ratio had a similar value, whereas when the outcome definition of blood culture positivity was used for procalcitonin (PCT), the greatest effectiveness of that was detected.

Radiofrequency catheter ablation of idiopathic left anterior fascicular ventricular tachycardia in children.

Background: Idiopathic ventricular tachycardia of left anterior fascicular origin (IVT-LAF) is a rare condition, and radiofrequency catheter ablation (RFCA) therapy has not been reported in children.

Objective: This study aimed to evaluate the procedures and outcomes of RFCA for pediatric IVT-LAF.

Methods: Pediatric IVT-LAF cases for which RFCA was performed between June 2006 and May 2012 at our hospital were reviewed.

Novel technique for implantation of a cardioverter defibrillator in children.

An 8-year-old boy with hypertrophic nonobstructive cardiomyopathy with ventricular fibrillation underwent implantation of an implantable cardioverter defibrillator. The lead was inserted through a pursestring suture in the right atrial appendage, and the tip of coil was placed in the right ventricular apex under fluoroscopic guidance. Another defibrillation coil was placed in the back of the left atrium and left ventricle by the transverse sinus.