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We sought to elucidate the risk profiles of patients with Kawasaki disease who developed coronary artery abnormalities through a retrospective analysis with special reference to steroid treatment. Demographics of the patients were obtained from medical records, and characteristics of the coronary artery abnormalities were evaluated by echocardiography and coronary angiography, which included number, location, size, and length of coronary artery abnormalities (we evaluated by cardiac catheterisation with the American Heart Association classification with segments). We divided the patients into two groups based on steroid use and compared their characteristics and the complications of coronary artery abnormalities and cardiac events. A total of 29 patients were diagnosed with coronary artery abnormalities by echocardiography and coronary angiography during the study period (24 male; median age, 24 months [range: 2–84 months]). Eighteen patients were treated with aspirin and intravenous immunoglobulin (63%, non-steroid group), whereas 11 received aspirin and intravenous immunoglobulin plus steroids (37%, steroid group). No significant differences were found in the number and location of coronary artery abnormalities between the steroid and non-steroid groups. However, the size and number of segments for coronary artery abnormalities were significantly larger and shorter, respectively, in the steroid group (z-score: non-steroid group 6.3 versus steroid group 8.7; p < 0.01). The coronary artery abnormality segments under steroid use were also shorter (non-steroid group versus steroid group, two segments versus one segment; p = 0.02). Coronary artery abnormality size was larger in patients who used steroids than that of non-steroids. This study showed that steroid use significantly affected coronary artery abnormality size in patients with Kawasaki disease. However, cardiac complications from coronary artery abnormalities and cardiac events were comparable between the steroid and non-steroid groups. Further prospective, multicentre studies are needed to confirm these findings.

Hypertrophic cardiomyopathy (HCM) is genetically heterogeneous. Different variants associated with HCM have been identified in several cardiac sarcomeric protein genes. We identified the heterozygous missense variant c.2191 C>A p. Pro 731 Thr in the MYH7 gene and the heterozygous frameshift variant c.1091–1092 insTGAA p.Lys364fs*in the MYH6 gene in a Japanese family. Family members with the double variants demonstrated severe phenotypes, such as sudden cardiac-related death and heart failure. These double variants were well segregated and might be responsible for the severity of cardiovascular events in affected family members. These double variants are potentially associated with specific phenotypes in HCM. Further studies are needed to analyze specific gene functions.

We describe the detailed clinical course of rapidly enlarging infective aneurysms during the treatment of endocarditis and purulent pericarditis caused by Streptococcus pyogenes . We show that S. pyogenes aneurysms can enlarge rapidly within 1-2 days. Moreover, we highlight the benefit of transporting patients to a facility offering multidisciplinary treatment, even if vital signs stabilize to the point.

Background Systemic capillary leak syndrome (SCLS) is a rare disorder characterized by hypotension, hemoconcentration, and hypoalbuminemia associated with increased capillary endothelium permeability. Patients with a chronic form of SCLS present with persistent and progressive generalized edema. However, there have been no reports of chronic SCLS in patients undergoing hemodialysis. Herein, we report a case of chronic SCLS associated with an intravascular large B-cell lymphoma (IVLBCL) in a patient undergoing hemodialysis. Case presentation A 71-year-old male had been on hemodialysis for five years due to diabetic nephropathy. Difficulty in body fluid removal was observed during hemodialysis, and the patient was admitted to our hospital due to exacerbated weight gain and lower limb edema. He had elevated serum lactate dehydrogenase (LDH) levels and thrombocytopenia. His blood pressure was low, and his serum brain natriuretic peptide level was relatively low, despite the increase in body fluid volume. His clinical characteristics suggested a chronic form of SCLS. Random skin biopsy revealed IVLBCL; however, the association between IVLBCL and chronic SCLS remained unclear. He underwent chemotherapy with cyclophosphamide, doxorubicin, vincristine, and prednisolone, followed by rituximab. After the treatment, his serum LDH level decreased, and the difficulty in body fluid removal during hemodialysis improved. The patient’s chronic SCLS seemed to be complicated by IVLBCL. Conclusions Patients with chronic SCLS who are undergoing hemodialysis seem to present with difficulties in fluid removal. The frequency of SCLS complications in cases with malignant lymphomas, including IVLBCL, is considered to be extremely low. However, clinicians should be aware of SCLS as a complication of malignant lymphomas.

Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital cardiovascular anomaly that occurs in approximately 1 in 300,000 live births. This study aimed at identifying preoperative predictors of immediate postoperative outcomes. We conducted a retrospective, cross-sectional, single-center study and reviewed echocardiographic and hemodynamic data from all patients before and after surgical repair of ALCAPA at our center from January 2004 to February 2018. In all cases, the left coronary artery arose from the main pulmonary artery or a major branch. A total of 10 patients (age 1 month to 10 years, median 3 months) underwent ALCAPA surgical repair during the study period. No patients required a left ventricular assist device (LVAD) before surgery, but 4 patients (40%) received an LVAD after the surgery. The left ventricular ejection fraction (LVEF) improved in all patients following surgery. The utility of preoperative factors associated with pre- and post-procedure LVEF was investigated. LV dimension, as well as right coronary artery (RCA) and left coronary circumflex artery (LCX) Z scores were associated with a higher LVEF in the preoperative state. Patients with larger RCA, left ascending artery (LAD), and LCX Z scores also had a shorter duration of mechanical ventilation and ICU stay following surgery. Patients with a RCA Z score 4 required implantation of an LVAD postoperatively. ALCAPA patients with larger RCA and LCX demonstrated a higher preoperative LVEF, while those with larger RCA, LAD, and LCX had superior postoperative hemodynamics and clinical outcomes.

Introduction SCN8A-related epilepsy has various phenotypes. In particular, patients with developmental and epileptic encephalopathy (DEE) are resistant to antiepileptic drugs and may present with autonomic symptoms, such as marked bradycardia and apnea during seizures, and thus have an increased risk of sudden death. Herein, we report a case of very severe SCN8A-related epilepsy necessitating cardiac pacemaker implantation because of repetitive ictal asystole. Case report The patient was a 14-month-old girl. Tremor and generalized tonic seizure occurred after birth. During seizures, bradycardia and perioral cyanosis occurred, and then, after developing tachycardia and apnea, marked bradycardia and generalized cyanosis occurred, which sometimes resulted in ictal asystole requiring cardiopulmonary resuscitation. Her seizures were refractory to antiepileptic drugs. As the seizures requiring resuscitation did not decrease, cardiac pacemaker implantation was performed four months after birth. Exome sequencing revealed a heterozygous de novo variant in SCN8A (NM_014191.3:c.4934T>C,p.(Met1645Thr)). Even though phenytoin was effective, seizures with bradycardia remained approximately once a month, and pacemaker activity was observed. Conclusions This is, to our knowledge, the first reported case of SCN8A-related DEE in whom pacemaker implantation was performed. Pacemaker implantation should be considered as a treatment option for critical patients with SCN8A-related DEE as in the present case, because the incidence of sudden unexpected death in epilepsy is reported to be approximately 10% in patients with SCN8A-related DEE.

Background Myocarditis is an inflammatory disease of the myocardium, which leads to cardiac dysfunction and heart failure. Previous studies have suggested that complex cross-talk between innate and adaptive immune responses is involved in the pathogenesis of acute myocarditis. Immunohistochemistry is the current standard method for the evaluation of infiltrating immune cells, however, it is difficult to investigate and quantify many immune cell populations using this technique. Methods Endomyocardial biopsy samples of five pediatric patients with myocarditis were analyzed by cell-type identification by estimating relative subsets of RNA transcript (CIBERSORT), a computational method for quantifying cell fractions from tissue gene expression profiles. CIBERSORT results were then compared with immunohistochemistry analyses. Results Significant results of immune infiltrate deconvolution were obtained in four patients with fulminant myocarditis by CIBERSORT analysis. Among 22 immune cell types, 19 cell types were detected in one or more patients. Activated NK cells were the most prevalent population in two patients, whereas activated memory CD4+ T cells and M2 macrophages were the most prevalent population in one patient each. Overall CIBERSORT results were consistent with those of immunohistochemistry, although some discrepancies were observed. Conclusions Infiltrating immune cell subsets detected by CIBERSORT analysis can reflect the time course of innate and adaptive immune responses in acute myocarditis. CIBERSORT may have the potential to characterize the detail of infiltrating immune cells in myocardial tissues and provide novel insights into the pathogenesis of acute myocarditis.

Left ventricular noncompaction (LVNC) is a hereditary cardiomyopathy and is associated with high morbidity and mortality. However, the role and significance of school screening for LVNC have not been fully elucidated. In this multicenter, retrospective cohort study, a total of 105 children with LVNC were included from 2000 to 2017. At the initial presentation, 44 patients (41.9%) were diagnosed by school screening. One (1.0%) patient underwent heart transplantation and four (3.8%) patients died during the study. Electrocardiogram data showed a high prevalence of fragmented QRS (33.4%) and J wave (15.7%). Treatments were needed in eight (18.2%) patients who were detected by school screening. The multivariable proportional hazards model showed T-wave abnormality on electrocardiogram in first graders was independent risk factors for major adverse cardiac events (odds ratio 4.94, p value = 0.0007). Moreover, dilation of the left atrium on chest X-ray and low ejection fraction on echocardiogram at the initial treatment were independent risk factors for treatment (odds ratio 1.7 × 107 and 22.3, p = 0.0362 and 0.0028, respectively). This study is the first report focusing on school screening in a large pediatric cohort with LVNC. With the use of abnormalities in electrocardiogram, school screening may be a good detector of and predictor for LVNC.

Background The usefulness of electrocardiographic (ECG) voltage criteria for diagnosing hypertrophic cardiomyopathy (HCM) in pediatric patients is poorly defined.Methods and Results:ECGs at the 1st grade (mean [±SD] age 6.6±0.3 years) were available for 11 patients diagnosed with HCM at around the 7th grade (13.2±0.3 years). ECGs were available for another 64 patients diagnosed with HCM in the 1st (n=15), 7th (n=32), and 10th (n=17) grades. Fifty-one voltage criteria were developed by grade and sex using 62,841 ECGs from the general population. Voltage criteria were set at the 99.95th percentile (1/2,000) point based on the estimated prevalence of childhood HCM (2.9 per 100,000 [1/34,483]) to decrease false negatives. Conventional criteria were from guidelines for school-aged children in Japan. Of 11 patients before diagnosis, 2 satisfied conventional criteria in 1st grade; 5 (56%) of the remaining 9 patients fulfilled 2 voltage criteria (R wave in limb-lead I [RI]+S wave in lead V3 [SV3] and R wave in lead V3 [RV3]+SV3). Robustness analysis for sensitivity showed RV3+SV3 was superior to RI+SV3. For all patients after diagnosis, RI+SV4 was the main candidate. However, conventional criteria were more useful than voltage criteria. Conclusions Early HCM prediction was possible using RV3+SV3 in >50% of patients in 1st grade. Voltage criteria may help diagnose prediagnostic or early HCM, and prevent tragic accidents, although further prospective studies are required.

Research Question Although assisted reproductive technology (ART) increases the risk of congenital heart disease (CHD), the relationship between ART and critical CHD (CCHD) that requires early intervention in neonates is unclear. The objective of this study was to investigate the proportion of ART across different types of neonatal CCHD in a Japanese population. Design This study is a retrospective analysis of 418 consecutive infants with CCHDs that required catheter treatment or surgery within the first 28 days of life or ductal-dependent lesions, in two paediatric centres in Japan, between January 2014 and December 2019. The proportion of ART in infants with each type of CCHD was evaluated. We also evaluated the proportion of ART in infants with univentricular heart defect (UVH) compared with those with biventricular heart defect (BVH). Results The study group included 229 boys and 189 girls, with a gestational age of 38±2 weeks. Overall, 61 infants (14.5%) were conceived by fertility treatment with 46 (11.0%) conceived by ART. UVH and BVH were identified in 111 infants (26.6%) and 307 infants (73.4%), respectively. The proportion of infants conceived by ART was significantly higher in UVH (16.2%) than in BVH (9.1%), regardless of maternal age and maternal history of miscarriage. Conclusions The proportion of ART in infants with CCHD, especially UVH, was high. These findings may be an important basis to consider the rationale for performing fetal echocardiography in fetuses conceived by ART.

Type II DNA topoisomerase (topo II) catalyzes double-stranded DNA cleavage and re-ligation, thus solving problems in DNA topology. Vertebrates have two isozymes (α and β). Recently, the C-terminal regulatory domain (CRD), which regulates catalytic activity and subnuclear localization by associating with RNA, was identified within the C-terminal domain (CTD) of rat topo IIβ. In contrast, it is unclear whether a β CRD-like domain is present in the CTD of topo IIα. In this study, we aimed to identify an RNA-mediated regulatory domain in the rat topo IIα CTD. First, we exchanged the CTDs of rat topo IIα (amino acids 1,192-1,528) and β (1,201-1,614) and examined the two chimeras' in vitro catalytic activities. Interestingly, the relaxation activities of topo IIα WT enzyme and both of the CTD-swapped mutants were inhibited in the presence of isolated cellular RNA, suggesting that the α CTD is involved in the RNA-mediated regulation of catalytic activity in topo IIα. The results of on-bead assays using a CTD-deleted mutant of rat topo IIα indicated that the RNA-mediated inhibition of the relaxation activity was caused by an interaction between the α CTD and RNA. Further, to identify the domain within the CTD that is associated with subnuclear localization of rat topo IIα, we transiently expressed EGFP-tagged CTD deletion mutants in human cells. The data indicated that the 1,192-1,289 region of rat topo IIα was required for targeting the enzyme to nucleoli. Finally, a relaxation assay using 1-1,289 and Δ1,192-1,289 truncated mutants indicated that the 1,192-1,289 region is involved in RNA-mediated inhibition. These results indicated that the CTD of rat topo IIα, containing the 1,192-1,289 region, is involved in the regulation of catalytic activity by associating with RNA, as well as in the localization to nucleoli in interphase cells.

Restrictive cardiomyopathy (RCM) is a rare myocardial disease with an impaired diastolic function and poor prognosis. Almost all RCM patients are reported to have abnormal P-waves due to atrial overloading. This study aimed to reveal the characteristics of the P-waves in RCM patients and to suggest the diagnostic index of RCM in children with a 12-lead electrocardiogram (ECG). We retrospectively investigated 17 ECGs of children with idiopathic RCM during the initial visit at 15 institutes in Japan between 1979 and 2013. The RCM group was divided into four groups based on the age (elementary school [ES] and junior high school [JHS] students) and inception of the diagnosis (abnormal ECG on school-heart-screening [e-RCM] and some cardiovascular symptoms [s-RCM]), the ES/e-RCM (n = 5), ES/s-RCM (n = 4), JHS/e-RCM (n = 4), and JHS/s-RCM (n = 4) groups. As an aged-match control group, school-heart-screening ECGs of 1st-grade ES students (16,770 students) and 1st-grade JHS students (18,126 students) from Kagoshima in 2016 were adopted. For a comparison between the groups, we used the effect size “Hedge’s g” by calculating the mean and standard deviation of the two groups. An effect size of 0.8 (or above) had an overlap of 53% (or less). The effect sizes of the sum of the absolute values of the forward and backward amplitudes in lead V1 (P1 + P2 V1) was the largest, and the ES/e-RCM, ES/s-RCM, JHS/e-RCM, and JHS/s-RCM were 15.8, 22.1, 9.4, and 10.3, respectively. A P1 + P2 V1 > 200 μV was able to rule in all RCM patients, thus, we proposed 200 µV as the cutoff value for screening purposes. In conclusion, the P1 + P2 V1 in the school-heart-screening may be useful for detecting asymptomatic or early-stage RCM in school-age children.

Background: Left ventricular noncompaction (LVNC) is a hereditary type of cardiomyopathy. Although it is associated with high morbidity and mortality, the related ion channel gene variants in children have not been fully investigated. This study aimed to elucidate the ion channel genetic landscape of LVNC and identify genotype-phenotype correlations in a large Japanese cohort. Methods: We enrolled 206 children with LVNC from 2002 to 2017 in Japan. LVNC was classified as follows: LVNC with congenital heart defects, arrhythmia, dilated phenotype, or normal function. In the enrolled patients, 182 genes associated with cardiomyopathy were screened using next-generation sequencing. Results: We identified 99 pathogenic variants in 40 genes in 87 patients. Of the pathogenic variants, 8.8% were in genes associated with channelopathies, 27% were in sarcomere genes, and 11.5% were in mitochondrial genes. Ion channel gene variants were mostly associated with the arrhythmia classification, whereas sarcomere and mitochondrial gene variants were associated with the dilated phenotype. Echocardiography revealed that the group with ion channel gene variants had almost normal LV ejection fraction and LV diastolic diameter Z scores. Fragmented QRS, old age, and an arrhythmia phenotype were the most significant risk factors for ventricular tachycardia ( P =0.165, 0.0428, and 0.0074, respectively). Moreover, the group with ion channel variants exhibited a greater risk of a higher prevalence of arrhythmias such as ventricular tachycardia, rather than congestive heart failure. Conclusions: This is the first study that focused on genotype-phenotype correlations in a large pediatric LVNC patient cohort with ion channel gene variants that were determined using next-generation sequencing. Ion channel gene variants were strongly correlated with arrhythmia phenotypes. Genetic testing and phenotype specification allow for appropriate medical management of specific LVNC targets.

It is unsettled whether increased exercise ventilation in Fontan subjects is due to increased pulmonary dead space or augmented ventilatory drive. Twenty-six Fontan patients underwent symptom-limited treadmill cardiopulmonary exercise testing. Two groups of age- and sex- matched subjects served as controls: the biventricularly repaired (Bi, n = 18), and the “true” control (C, n = 29) groups. Peak oxygen uptake (V̇O2peak) was not different among groups (41.0 +/– 8.4 ml/min/kg, 43.5 +/– 6.6 ml/min/kg, and 45.9 +/– 11.6 ml/min/kg for Fontan, Bi, and C groups, respectively, p = 0.16). Fontan subjects, however, showed steeper alveolar ventilation/carbon-dioxide (V̇A/V̇CO2) regression slope (35.5 +/– 5.3, 28.7 +/– 3.8, and 29.5 +/– 3.0 l/ml, for Fontan, Bi, and C groups, respectively, p

Myocarditis is an inflammatory disease of the myocardium and leads to cardiac dysfunction and heart failure. Although viral infections are considered to be the most common etiology of myocarditis, the identification of the causative virus is still challenging. Recently, next-generation sequencing (NGS) has been applied in the diagnosis of infectious diseases. The aim of the current study was to comprehensively analyze potential pathogenic microorganisms using NGS in the sera of patients with myocarditis. Twelve pediatric and five adult patients hospitalized for acute myocarditis were included. Serum samples in the acute phase were obtained and analyzed using NGS to detect pathogen-derived DNA and RNA. Viral sequence reads were detected in 7 (41%) of the 17 myocarditis patients by NGS. Among these patients, detection of Epstein-Barr virus, human parvovirus B19, torque teno virus, and respiratory syncytial virus reads by NGS was consistent with polymerase chain reaction or antigen test results in one patient each. A large number of human pegivirus reads were detected from one patient by RNA sequencing; however, its pathogenicity to human is unknown. Conversely, the number of detected virus-derived reads was small in most cases, and the pathophysiological role of these viruses remains to be clarified. No significant bacterial or fungal reads other than normal bacterial flora was detected. These data indicate that comprehensive detection of virus-derived DNA and RNA using NGS can be useful for the identification of potential pathogenic viruses in myocarditis.

Background The aim of this study was to investigate the prediction of postnatal prognosis using fetal and perinatal data in patients with primary congenital dilated cardiomyopathy (PCDCM), and to estimate the incidence of this disease. Methods We examined correlations between fetal or perinatal data and postnatal clinical course in a multicenter retrospective study of eight patients with PCDCM. Incidence was calculated in a population-based study. Results All patients developed heart failure at a median of 8 days (range, 0-43 days), and six patients died or required extracorporeal artificial heart therapy at a median of 67 days (range, 0-92 days). The cardiothoracic area ratio from fetal echocardiography, the Apgar score, and the standard deviation of birth weight correlated significantly with the date at onset of heart failure. However, no data correlated with survival. Cumulative incidence of PCDCM was calculated as 1.21 per 100 000 total births (95% confidence interval, 0.37 to 2.06). Conclusions Primary congenital dilated cardiomyopathy has a poor prognosis, but cardiothoracic area ratio from fetal echocardiography, body weight at birth, and Apgar score correlate with the timing of the onset of heart failure, and these indicators might therefore be useful for peri- and postnatal management.

Gut microbiota composition was supposedly related to obesity and psychological factors. We examined the effects of a nutritional education intervention focusing on gut microbiota composition on obesity and psychological factors among obese women. Forty-four obese Japanese women aged 40 or older were randomly assigned to either an intervention group (n = 22) or control group (n = 22). The intervention consisted of a 20-min dietary lecture and a 10-min counselling session by registered dieticians, every 2 weeks for eight consecutive weeks. Body weight, height, waist circumference, food frequency, and gut microbiota composition were measured, and self-rated health and psychological factors were scored before and after the intervention. All participants completed the 8 week program. After the intervention, dietary fibre intake (p

Myocarditis is an inflammatory disease of the myocardium and leads to cardiac dysfunction and heart failure. Although viral infections are considered to be the most common etiology of myocarditis, the identification of the causative virus is still challenging. Recently, next-generation sequencing (NGS) has been applied in the diagnosis of infectious diseases. The aim of the current study was to comprehensively analyze potential pathogenic microorganisms using NGS in the sera of patients with myocarditis. Twelve pediatric and five adult patients hospitalized for acute myocarditis were included. Serum samples in the acute phase were obtained and analyzed using NGS to detect pathogen-derived DNA and RNA. Viral sequence reads were detected in 7 (41%) of the 17 myocarditis patients by NGS. Among these patients, detection of Epstein-Barr virus, human parvovirus B19, torque teno virus, and respiratory syncytial virus reads by NGS was consistent with polymerase chain reaction or antigen test results in one patient each. A large number of human pegivirus reads were detected from one patient by RNA sequencing; however, its pathogenicity to human is unknown. Conversely, the number of detected virus-derived reads was small in most cases, and the pathophysiological role of these viruses remains to be clarified. No significant bacterial or fungal reads other than normal bacterial flora was detected. These data indicate that comprehensive detection of virus-derived DNA and RNA using NGS can be useful for the identification of potential pathogenic viruses in myocarditis.

It is essential to establish an appropriate initial treatment strategy for pediatric fulminant myocarditis. We reviewed eight cases of pediatric fulminant myocarditis that required extracorporeal membrane oxygenation (ECMO) from 2012 to 2015. The median age was 8 years (range 3 months-13 years), and the median body surface area was 0.89 m(2) (range 0.35-1.34 m(2) ). Peripheral veno-arterial ECMO was initially applied, and we evaluated whether heart decompression was sufficient. If the pump flow was insufficient, central cannulation was performed via median sternotomy (central ECMO). The need for subsequent ventricular assist device (VAD) support was determined 72 h after ECMO initiation. Six patients were bridged to recovery using peripheral ECMO support only (for 3-11 days), whereas two required VAD support. One patient was switched to central ECMO before VAD implantation. Three patients died of multiorgan failure, even though cardiac function recovered in two of those patients. The duration from hospital arrival to ECMO initiation was shorter in the survival (3.3 ± 1.3 h; range 1.6-4.7 h) than in the nonsurvival group (32 ± 28 h; range 0.7-55 h). Peripheral ECMO can be useful as a bridge to decision for pediatric fulminant myocarditis, which is frequently followed by a successful bridge to recovery. It is important to determine whether ECMO support should be initiated before organ dysfunction advances to preserve organ function, which provides a better bridge to subsequent VAD therapy and heart transplant or recovery.

A 2-year-old girl with a functionally univentricular heart associated with a pulmonary sequestration underwent right lower lobectomy after which increased lung volume with low mean pulmonary artery pressure and pulmonary vascular resistance was documented. A cardiac catheterisation performed after a subsequent total cavopulmonary connection demonstrated favourable Fontan haemodynamics. Lobectomy may have induced compensatory lung growth, contributing to the maintenance of haemodynamics favourable for the long-term success of the Fontan procedure.

Background Myocarditis is an inflammatory disease of the myocardium with a wide range of clinical presentations, occasionally leading to cardiac dysfunction and heart failure. Although viral infections are considered to be the most common etiology of myocarditis, identification of the causative virus is still challenging. Recently, next-generation sequencing (NGS) has been applied in the diagnosis of infectious diseases. The aim of this study was to evaluate the utility of NGS for detection of causative viruses in sera of patients with acute myocarditis. Methods Twelve pediatric and five adult patients hospitalized for acute myocarditis were included in this study. Serum samples before initiation of treatment were collected in the acute phase and analyzed with NGS-based approach. To detect pathogen-derived sequencing reads, we performed DNA and RNA sequencing for each sample. Results An average of 20,062,443 and 19,506,189 total reads were obtained in DNA and RNA sequencing libraries, respectively. Viral sequence reads were detected in 7 (41%) of the 17 myocarditis patients. Substantial sequence reads of GB virus C (GBV-C) reads were detected from one patient by RNA sequencing; however, its pathogenicity to human is unknown. Detection of Epstein–Barr virus, human parvovirus B19, and respiratory syncytial virus reads by NGS was consistent with PCR or antigen test results. Conversely, the number of detected virus-derived reads was small in most cases. No significant bacterial or fungal reads other than normal bacterial flora was detected. Conclusion NGS-based approach may have potential to detect the causative viruses and contribute to clarification of the etiology of acute myocarditis. Disclosures All authors: No reported disclosures.

A full-term neonate presented with cyanosis only when sleeping, which was considered due to a prominent eustachian valve, directing blood flow from the inferior vena cava to the left atrium through the foramen ovale resulting in interatrial right-to-left shunting. In addition to the anatomical features, hemodynamic features shortly after birth, such as patent foramen ovale and high pulmonary vascular resistance, were also probably involved in the mechanism responsible for the patient's cyanosis. This case may provide insight into differential diagnosis for cyanotic infants.

It is essential to establish an appropriate initial treatment strategy for pediatric fulminant myocarditis. We reviewed eight cases of pediatric fulminant myocarditis that required extracorporeal membrane oxygenation (ECMO) from 2012 to 2015. The median age was 8 years (range 3 months-13 years), and the median body surface area was 0.89 m(2) (range 0.35-1.34 m(2) ). Peripheral veno-arterial ECMO was initially applied, and we evaluated whether heart decompression was sufficient. If the pump flow was insufficient, central cannulation was performed via median sternotomy (central ECMO). The need for subsequent ventricular assist device (VAD) support was determined 72 h after ECMO initiation. Six patients were bridged to recovery using peripheral ECMO support only (for 3-11 days), whereas two required VAD support. One patient was switched to central ECMO before VAD implantation. Three patients died of multiorgan failure, even though cardiac function recovered in two of those patients. The duration from hospital arrival to ECMO initiation was shorter in the survival (3.3 ± 1.3 h; range 1.6-4.7 h) than in the nonsurvival group (32 ± 28 h; range 0.7-55 h). Peripheral ECMO can be useful as a bridge to decision for pediatric fulminant myocarditis, which is frequently followed by a successful bridge to recovery. It is important to determine whether ECMO support should be initiated before organ dysfunction advances to preserve organ function, which provides a better bridge to subsequent VAD therapy and heart transplant or recovery.

We report a patient who successfully underwent a one-and-a-half ventricular repair (1.5 VR) through a right lateral thoracotomy. In the case of possible hazardous complications at the sternal reentry because of previous mediastinitis, this approach was thought to be an option in selected patients to complete a functional correction by means of 1.5 VR.

a E u s a o 6-year-old boy was referred for follow-up of a ventricular septal defect, which was first diagnosed when he was a neonate. Cardiac catheterization performed t 7 months of age revealed an aberrant left subclavian artery rising from the right aortic arch. Recurrent respiratory inection that caused stridor and/or wheezing occurred in early nfanthood, but it was deemed not related to the cardiac efect because the pulmonary-to-systemic flow ratio was 1.6:1 nd there was no pulmonary hypertension. With time, his espiratory symptoms remitted, and he was lost to follow-up or several years, while his family worried about his dysphagia. o heart murmur was auscultated, and the second heart ound was split and fixed. Electrocardiography showed inomplete right bundle-branch block. Ultrasonography indiated a small infundibular ventricular septal defect and right entricular volume overload with intact atrial septum. Contrast-enhanced 16-row multislice computed toography was performed, and three-dimensional reconstrucion (Figure 1) visualized anomalous connection of the rightpper pulmonary vein to the superior vena cava (A) and the ight retroesophageal aortic arch with an aberrant left subclaigure 1. A, Three-dimensional reconstruction of contrast-enhanced mult eturns to the superior vena cava (open arrow). B, Posterior view showing t rrow), an aberrant left subclavian artery (white arrowhead), and the divertic rrowhead). C, Superimposition of esophageal and tracheobronchial images asterisk).

In order to evaluate the contribution of FBN1, FBN2, TGFBR1, and TGFBR2 mutations to the Marfan syndrome (MFS) phenotype, the four genes were analyzed by direct sequencing in 49 patients with MFS or suspected MFS as a cohort study. A total of 27 FBN1 mutations (22 novel) in 27 patients (55%, 27/49), 1 novel TGFBR1 mutation in 1 (2%, 1/49), and 2 recurrent TGFBR2 mutations in 2 (4%, 2/49) were identified. No FBN2 mutation was found. Three patients with either TGFBR1 or TGFBR2 abnormality did not fulfill the Ghent criteria, but expressed some overlapping features of MFS and Loeys-Dietz syndrome (LDS). In the remaining 19 patients, either of the genes did not show any abnormalities. This study indicated that FBN1 mutations were predominant in MFS but TGFBRs defects may account for approximately 5-10% of patients with the syndrome.

We reconstructed of the aortic arches of two unrelated boys, who were the smaller twin in monochorionic pregnancies, because they had coarctation of the aorta (CoA). They both had hypospadias. The co-twins, the larger twins, had neither CoA nor hypospadias. Although CoA and hypospadias both have been associated separately with monozygotic pregnancy, this is the first report of CoA and hypospadias occurring together. These cases indicate that epigenetic factors such as unbalanced fetal circulation in monochorionic pregnancy may be involved in co-occurrence of CoA and hypospadias.