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Cushing syndrome (CS) is a rare disease caused by hypercortisolemia. Although surgical treatment is the first-line treatment in CS, the appropriate medication for the patient’s condition should be selected when medical treatment is needed. Etomidate is an adrenal-blocking drug used to treat CS and the most suitable for severe hypercortisolemia and adrenocortical carcinoma (ACC), due to cardiovascular stability and an anti-tumorigenic effect. However, its use and safe recommended dosage in infants with CS is unreported. Here we describe the case of a 2-month-old girl treated with etomidate for CS caused by ACC. Even though radical mass excision was performed, severe hypercortisolemia persisted, resulting from metastatic lesions in the liver, and medical treatment was considered. The etomidate doses, no bolus dose and infusion rate of 0.03 mg/kg/hour, may be an appropriate dose for severe hypercortisolemia in infants. This case will help determine future treatment strategies for similar cases in infants.

As more than 85% of patients with congenital heart disease (CHD) have grown to adulthood through improvement in treatment and surgery, the difficulties they experience are expanding into areas related to daily life. Accordingly, adjustment to school in adolescents and young adults (AYAs) with CHD is of increasing interest and is influenced by familial factors.This was a cross-sectional descriptive study to examine the effects of parental positive emotional expressiveness and sibling relationships on school adjustment of AYAs with CHD.In this study, a self-reported questionnaire survey was used to collect the data. The participants were 104 AYAs with CHD aged 13 to 21 years who were attending school and had siblings.Maternal positive emotional expressiveness ( r = 0.584, P.01), paternal positive emotional expressiveness ( r = 0.584, P.01), and sibling warmth/closeness ( r = 0.478, P.01) were significantly correlated with school adjustment. However, the results of multiple regression analysis showed that only maternal positive emotional expressiveness (ß = 0.459, P.05) and sibling warmth/closeness (ß = 0.236, P.05) were significantly associated with school adjustment.Adolescents and young adults with CHD who reported higher maternal positive emotional expressiveness and sibling warmth/closeness exhibited better school adjustment. Findings suggest that intervention programs to increase parental positive expressiveness and enhance warmth/closeness of sibling relationships may contribute to improving school adjustment.

We report a case of rapidly progressed cardiac remodeling in a child with hypertrophic cardiomyopathy. Three and a half years after the diagnosis of hypertrophic cardiomyopathy, arrhythmia and heart failure due to aggravated septal hypertrophy and left ventricle apical aneurysm progressed, and a heart transplant was performed.

To analyze the clinical presentation and outcomes of myocarditis after administration of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) messenger RNA (mRNA) vaccine. Nine case series and 15 case reports (74 patients) of myocarditis after administration of the BNT162b2 or mRNA-1273 vaccine were reviewed from PubMed, Scopus, Embase, and Web of Science. We analyzed clinical manifestations, diagnostic findings, and outcomes. In addition, we performed a pooled analysis and investigated risk factors leading to admission to the intensive care unit and recovery with conservative care. Most patients were male (94.6%), and the median age (range) was 17.6 (14–70) years. Patients who received the BNT162b2 (n = 58, 78.4%) vaccine presented fewer systemic symptoms and left ventricular dysfunction than mRNA-1273 recipients. Although patients under 20 years experienced more fever and myalgia, they had better ejection fraction and less prominent myocardial inflammation in magnetic resonance imaging than older patients. The clinical course of all patients was favorable without mortality, and one-third of patients resolved with conservative care alone. Risk factor analyses revealed that patients with gastrointestinal symptoms required intensive care (odds ratio: 20.3, 95% confidence interval 1.90–217, p = 0.013). The risk of fatality in myocarditis subjected to mRNA vaccination seems to be low. However, patients with gastrointestinal symptoms received more intensive care, and a significant proportion of patients recovered with conservative management.

Alström syndrome is a rare, multisystemic genetic disorder, and dilated cardiomyopathy occurs in approximately two-thirds of patients with this condition. Because of donor organ shortage and unfavorable prognosis of multiple organ dysfunction, heart transplant is not the most desirable therapeutic option for patients with dilated cardiomyopathy with Alström syndrome. However, eliminating heart dysfunction elements at an appropriate time itself plays a pivotal role in preventing or even reversing other organ failures. Herein, we report the case of a 17-year-old boy who underwent successful isolated heart transplant despite severe liver dysfunction.

Background: Although the transcatheter closure of atrial septal defect was established as the treatment of choice several decades ago, the process of device neoendothelialization (NE) in humans is not well understood. We aimed to measure the extent of device NE using cardiac computed tomography angiography and analyze its risk factors. Methods: Between January 2005 and February 2021, we retrospectively reviewed 164 devices of 112 patients on cardiac computed tomography angiography. We investigated device shape, contrast opacification within the device that differentiated device NE, and device-related thrombosis or vegetation. Risk factor analysis for major adverse cardiovascular events and incomplete NE according to the postprocedural period was performed. Results: Seventy patients (62.5%) were women, with a median (range) age at the time of device closure of 44.5 (0.6–79.2) years. The mean (±SD) defect size was 16.6 (±7.8) mm, and patients were followed for 35.9±33.9 months. After 6 months of device implantation, 35% of the devices (42/120) had incomplete NE. The intensity of intradevice opacification shifted from complete to partial or nonopacification over time ( P P P P Conclusions: Incomplete NE of atrial septal defect devices was identified on cardiac computed tomography angiography in significant numbers after 6 months of the procedure. The device diameter was related to incomplete NE and major adverse events. Further prospective and multicenter studies are warranted to validate this new assessment of device NE.

We aimed to determine the feasibility, efficacy, success, and safety of intracardiac echocardiography (ICE) in transcatheter multiple atrial septal defect (ASD) closure. Of 185 patients with multiple ASDs who underwent transcatheter closure, 140 (76%) patients who weighed 7 mm was high, and more cases required ≥2 devices in the 3D TEE group than those in the ICE group (p < 0.0001). All patients in the 3D TEE group and seven patients (5%) in the ICE group were operated on under general anesthesia (p < 0.0001). The fluoroscopic time was shorter in the ICE group (13.98 ± 6.24 min vs. 24.86 ± 16.47 min, p = 0.0005). No difference in the complete closure rate and complications was observed. ICE-guided transcatheter and 3D TEE were feasible, safe, and effective in successful multiple ASD device closures, especially for young children and patients at high risk under general anesthesia.

On October 2020, the US Food and Drug Administration (FDA) approved remdesivir as the first drug for the treatment of coronavirus disease 2019 (COVID-19), increasing remdesivir prescriptions worldwide. However, potential cardiovascular (CV) toxicities associated with remdesivir remain unknown. We aimed to characterize the CV adverse drug reactions (ADRs) associated with remdesivir using VigiBase, an individual case safety report database of the World Health Organization (WHO). Disproportionality analyses of CV-ADRs associated with remdesivir were performed using reported odds ratios and information components. We conducted in vitro experiments using cardiomyocytes derived from human pluripotent stem cell cardiomyocytes (hPSC-CMs) to confirm cardiotoxicity of remdesivir. To distinguish drug-induced CV-ADRs from COVID-19 effects, we restricted analyses to patients with COVID-19 and found that, after adjusting for multiple confounders, cardiac arrest (adjusted odds ratio [aOR]: 1.88, 95% confidence interval [CI]: 1.08-3.29), bradycardia (aOR: 2.09, 95% CI: 1.24-3.53), and hypotension (aOR: 1.67, 95% CI: 1.03-2.73) were associated with remdesivir. In vitro data demonstrated that remdesivir reduced the cell viability of hPSC-CMs in time- and dose-dependent manners. Physicians should be aware of potential CV consequences following remdesivir use and implement adequate CV monitoring to maintain a tolerable safety margin. Funding Agencies|Yonsei University College of Medicine for 2021 [2021-32-0049] Funding Source: Medline

Treatment options for children with end-stage heart failure are limited. We report the first case of a successful pediatric heart transplantation bridged with a durable left ventricu-lar assist device in Korea. A 10-month-old female infant with dilated cardiomyopathy and left ventricular non-compaction was listed for heart transplantation. During the waiting period, the patient’s status deteriorated. Therefore, we decided to provide support with a durable left ventricular assist device as a bridge to transplantation. The patient was suc-cessfully bridged to heart transplantation with effective support and without any major adverse events.

Adolescents with congenital heart disease (CHD) continuously need family support because of their repeated follow ups, treatments, and complications. However, sibling relationships have not been well studied among adolescents with CHD. The purpose of the present study was to explore the relationships between adolescents with CHD and their siblings, and to examine these relationships according to birth order and age. Adolescents aged from 13 to 21 years who had been diagnosed with CHD and had siblings were included as participants. The Sibling Relationship Questionnaire (SRQ) was used. The SRQ consists of four factors: warmth/closeness, conflict, relative power/status, and rivalry. A univariate general linear model was conducted to identify the sibling relationship factors according to birth order and sibling ages. The score for relative power/status of participants who were the eldest sibling was higher than that of younger siblings. The score for rivalry increased as sibling age increased. Therefore, healthcare providers need to investigate sibling relationships and to explain the importance of self-identity and power balance between adolescents with CHD and their siblings to parents.

Percutaneous pulmonary valve implantation (PPVI) is used to treat pulmonary stenosis (PS) or pulmonary regurgitation (PR). We described our experience with PPVI, specifically valve-in-valve transcatheter pulmonary valve replacement using the Melody valve and novel self-expandable systems using the Pulsta valve. We reviewed data from 42 patients undergoing PPVI. Twenty-nine patients had Melody valves in mostly bioprosthetic valves, valved conduits, and homografts in the pulmonary position. Following Melody valve implantation, the peak right ventricle-to-pulmonary artery gradient decreased from 51.3 &plusmn, 11.5 to 16.7 &plusmn, 3.3 mmHg and right ventricular systolic pressure fell from 70.0 &plusmn, 16.8 to 41.3 &plusmn, 17.8 mmHg. Thirteen patients with native right ventricular outflow tract (RVOT) lesions and homograft underwent PPVI with the new self-expandable Pulsta valve&mdash, a nitinol wire stent mounted with a trileaflet porcine pericardial valve. Following Pulsta valve implantation, cardiac magnetic resonance imaging showed a decreased PR fraction and that the right ventricular end-diastolic volume index decreased from 166.1 &plusmn, 11.9 to 123.6 &plusmn, 12.4 mL/m2. There were no mortality, severe procedural morbidity, or valve-related complications. At the mean 14.2 month (4&ndash, 57 months) follow-up, no patients had more than mild PR. PPVI using Melody and Pulsta valves was first shown to provide excellent early outcomes without serious adverse event in most patients with RVOT dysfunction in Korea.

Few hemodynamic comparison studies on various types of Fontan operation have been reported. The objective of this study was to perform hemodynamic comparisons for flow size and volume in three types of Fontan operation: atriopulmonary connection (APC), lateral tunnel (LT), and extracardiac conduit (ECC). Forty patients with Fontan operation (8 with APC Fontan, 22 with LT Fontan, and 10 with ECC Fontan) were enrolled. Velocity time integral (VTI) and average peak velocity (APV) were assessed according to cardiac and respiratory cycles in SVC, IVC, hepatic vein, conduit, LPA, and RPA using direct intravenous Doppler echocardiography. During each cardiac cycle in APC, VTI and APV between inspiration and expiration did not show significant differences in SVC, IVC, HV, LPA, or RPA. During each cardiac cycle in LT and ECC, VTI and APV between inspiration and expiration showed significant differences in all native vessels. The gap between S and D wave in APC was the highest, followed by that in LT. It was the lowest in ECC regardless of inspiration or expiration. Hepatic reverse VTI and APV in APC showed significant decreases compared to those in VC and PA during inspiration and expiration. Flow size and volume in APC were more influenced by cardiac cycle. Those in LT were moderately influenced by both respiratory cycle and cardiac cycle while those in ECC were more influenced by respiratory cycle. APC Fontan has hemodynamic inefficiency with prominent reverse flow. However, total cavopulmonary connection (TCPC) Fontan has more hemodynamic efficiency without prominent reverse flows.

Background We explored the value of cardiac computed tomography (CT) for the detection and prediction of mechanical complications related to the risk of sudden cardiac death (SCD) in pulmonary arterial hypertension (PAH) patients. Methods PAH patients ( n =60, mean age 47±15, 31.7% male) with pulmonary artery (PA) enlargement (≥40mm) by echocardiography were studied with cardiac CT. Complications explored were the presence of left main coronary artery (LM) compression, airway compression, PA dissection and PA thrombosis in relation to diameters of main PA (MPA) which were measured in (1) axial plane (MPA Ax ) and (2) LM oblique view (MPA LMobq ). Results Mechanical complications were found in 21 patients (35.0%): LM compression in 20 patients; airway compression in 3 patients; and PA thrombosis in 4 patients. Patients with complications had more dilated MPA LMobq than patients without complication (59.4±13.0mm vs. 42.4±7.0mm, p LMobq was 0.889 (95% confidence interval: 0.795 to 0.983, p LMobq of 45mm. MPA Ax failed to predict the presence of mechanical complications ( p >0.05). Conclusion MPA LMobq ≥45mm was significantly associated with the presence of mechanical complications of PAH. Evaluation with CT should be considered in PAH patients with dilated MPA.

Aims In patients with Fontan circulation, the conduit may be punctured for electrophysiological procedures. We evaluated the feasibility and safety of a stepwise approach to conduit puncture in adults who have undergone Fontan operation. Methods and results We included 13 consecutive patients with lateral tunnel or extracardiac conduit Fontan circulation [median age (interquartile range), 24.0 (16.0-25.0) years; seven men] who had undergone electrophysiological procedures. We performed a stepwise approach to conduit puncture: 1st, Brockenbrough needle; 2nd, Brockenbrough needle with snare; 3rd, extra-steep Brockenbrough needle with/without snare; 4th radiofrequency transseptal needle with/without snare; 5th, wiring through the puncture; 6th, conduit dilation with angioplasty balloon; 7th, non-compliant or cutting balloon; and 8th, Inoue dilator. In 12 patients, conduit puncture was successful. In two, one, and two patients with a lateral tunnel made of the pericardium or right atrial wall, conduit puncture was performed by steps 1st, 2nd, and 4th, respectively. In one, three, two, and one patient with the Goretex lateral tunnel or extracardiac conduit, conduit puncture was performed by steps 1st, 6th, 7th, and 8th, respectively. Puncture time was significantly longer in patients with Goretex conduits than with pericardial conduits [62.0 (50.0-120.0) and 11.5 (10.0-14.8) min, respectively; P

Recently, the prevalence of infant Kawasaki disease (KD) has increased. However, the myocardial functional analysis of infant KD can be difficult and rarely reported. The purpose of this study was to investigate layer specific myocardial strain analysis for better assessment of the acute period in infant KD. The study retrospectively reviewed the echocardiographic data of 25 infant patients with KD at the acute phase. With advanced imaging, pulsed tissue Doppler velocity data, myocardial strain with three layers specific analysis was performed. Then the data were compared with 25 age-matched healthy control infants. The measures of longitudinal strain and radial strain were decreased in infant KD compared to healthy controls. The circumferential strain was significantly decreased in infant KD at all three myocardial layers, especially in the endocardial layer (KD: −20.5 ± 6.4 % vs. control: −25.6 ± 7.6 %, endocardium, p = 0.00001; −14.6 ± 4.4 % vs. −18.1 ± 4.0 %; middle myocardium, p = 0.01; −9.7 ± 3.3 % vs. −11.4 ± 3.8 %; epicardium, p = 0.04). The acute phase of infant KD demonstrated decreased myocardial strain measurement. Circumferential strain was the lowest in the endocardial layer. Further continuous long-term follow up for myocardial assessment should be recommended even after recovery with appropriate treatment.

A 7-month-old girl with no medical history was treated with mechanical circulatory support due to myocarditis. Her cardiac contractility did not improve despite more than one week of extracorporeal membrane oxygenation treatment. Thus, we planned a heart transplant. However, a high level of cytomegalovirus was found in blood laboratory results by quantitative polymerase chain reaction. The patient’s heart contractility recovered to normal range four days after ganciclovir treatment. She was discharged with slightly decreased cardiac contractility with a left ventricular ejection fraction of 45%.

Background In patients with pulmonary arterial hypertension (PAH), the mechanical complications of pulmonary artery (PA) enlargement are related to sudden cardiac death (SCD). The aim of this study was to investigate the prevalence of PA enlargement, the correlation of main PA (MPA) diameter with other echocardiographic parameters, and the role of transthoracic echocardiography in screening for such complications. Methods Among 298 patients who were followed for PAH, patients with PA enlargement (>40 mm) by transthoracic echocardiography were consecutively enrolled in a prospective manner. The presence of left main and airway compression, PA dissection, or PA thrombus was determined with cardiac computed tomography. Results Forty-six patients (15.4%; mean age, 49 ± 14 years; 32.6% men) with dilated MPAs were enrolled. Mechanical complications were present in 16 patients (34.8%). Those with complications had more dilated MPAs compared with patients without (mean PA diameter, 55.6 ± 12.2 vs 46.7 ± 4.3 mm; P = .012). Other echocardiographic parameters of the right heart, such as right ventricular systolic pressure, showed no differences ( P > .05 for all). The area under the receiver operating characteristic curve for MPA diameter was 0.750 (95% CI, 0.577–0.923; P = .009), with the highest sensitivity and specificity values for the presence of complications being 85.7% and 58.6%, respectively, according to an MPA diameter of 46.5 mm. Conclusions Mechanical complications related to sudden cardiac death in patients with PAH with dilated PAs are common. The overall performance of transthoracic echocardiography as a screening tool for predicting such complications appears reasonable. Given the burden of sudden cardiac death, measurement of PA diameter should be routinely included over the course of follow-up, especially in patients with PAH.

Objectives The clinical outcome of children with severe acute myocarditis who require mechanical circulatory support is not well known. Therefore, we studied the survival and clinical courses of patients with acute fulminant myocarditis supported by extracorporeal life support (ECLS). Methods We performed a retrospective chart review of 13 consecutive children with acute fulminant myocarditis who were treated with ECLS between April 2013 and April 2015. Demographics, initial symptoms, laboratory results, management, clinical courses and last follow-up status were investigated. Results The median age was 25.8 months (range, 2.9 months to 11.5 years) and the median body weight was 10.3 kg (range, 5.3-47.5 kg). All patients received the ECLS procedure via peripheral approach (right neck). The median ECLS duration was 140 h (range, 51-425 h). The median intensive care unit stay was 16 days (range, 4-44 days). Viral pathogens were detected in 7 patients. Six patients underwent left-heart decompression using a catheter-based technique, which was performed using atrial septostomy and leaving a left atrial venting cannula. Eleven patients recovered from ventricular dysfunction, and 2 patients underwent successful orthotopic heart transplantation. Ultimately, 12 patients (92.3%) survived to discharge. The deceased patient succumbed to unrestored brain function due to enterovirus encephalitis, and the patient's parents chose to donate other organs. Conclusions Mechanical circulatory support using ECLS can be a first-line treatment that confers excellent clinical outcomes for children with acute fulminant myocarditis.

Objectives Although progressive right ventricular (RV) enlargement (RVE) is common in patients with pulmonary regurgitation after tetralogy of Fallot (TOF) repair, the rate of RVE and progression of RV dysfunction varies among patients. The present study aimed to investigate the independent predictors of rapid RVE and RV dysfunction after the repair of TOF, using serial cardiac magnetic resonance imaging (MRI). Methods The study included consecutive patients who underwent serial cardiac MRI more than twice between January 2005 and March 2015 after the repair of TOF. Patients who underwent surgical pulmonary valve implantation or any transcatheter cardiac intervention between two consecutive MRI assessments were excluded. The study patients were divided into rapid RVE and non-rapid RVE groups according to the rate of RVE. The upper first quartile of the patients was considered to have rapid RV dilatation (defined as rapid RVE group). Remaining patients in other three quartiles were included in the non-rapid RVE group. Additionally, the study patients were divided into rapid right ventricular ejection fraction (RVEF) change and non-rapid RVEF change groups according to the rate of change in the RVEF. The groups were compared, and multiple logistic regression analyses were performed to identify the independent risk factors for rapid RVE and RV dysfunction. Results The study included 116 patients. The mean number of cardiac MRI assessments performed in each patient was 2.8 ± 0.8. The time to the initial MRI assessment after TOF repair was 14.2 ± 10.3 years, and the interval between the initial and last MRI assessments was 4.5 ± 2.2 years. The mean right ventricular end-diastolic volume index (RVEDVi) change rate was 2.7 ± 6.1 ml/m(2)/year. The initial RVEDVi was not different between the rapid RVE and non-rapid RVE groups. Restrictive RV physiology was an independent risk factor for rapid RVE (odds ratio, 3.64; 95% confidence interval, 1.263-10.494; P = 0.02), and a previous palliative shunt procedure was a negative predictor for rapid RVE (odds ratio, 0.08; 95% confidence interval, 0.010-0.778; P = 0.03). We did not find any predictive factors for rapid RV dysfunction. Conclusions In patients with rapid RV dilatation, restrictive RV physiology might be frequently noted at the initial MRI assessment. Therefore, careful follow-up may be necessary in patients with restrictive RV physiology to determine the optimal timing of pulmonary valve implantation.

BACKGROUND In adults, tissue Doppler imaging (TDI) is a recommended component of routine echocardiography. However, TDI velocities are less accepted in pediatrics, due to their strong variability and age dependence in children. This study examines the distribution of myocardial tissue Doppler velocities in healthy children to assess the effect of age with cardiac growth on the various echocardiographic measurements. METHODS Total 144 healthy children were enrolled in this study. They were recruited from the pediatric outpatient clinic for routine well-child visits. The statistical relationships between age and TDI values were analyzed. Also, the statistical relationships between body surface area (BSA) and TDI values, left ventricle end-diastolic dimension (LVEDD) and TDI values were analyzed. Also, we conducted multivariate analysis of cardiac growth parameters such as, age, BSA, LVEDD and TDI velocity data. RESULTS All of the age, BSA, and LVEDD had positive correlations with deceleration time (DT), pressure half-time (PHT), peak early diastolic myocardial velocity, peak systolic myocardial velocity, and had negative correlations with peak late diastolic velocity (A) and the ratio of trans-mitral inflow velocity to early diastolic velocity of mitral annulus (E/E'). In the multivariate analysis, all of the age, BSA, and LVEDD had positive correlations with DT, PHT, and negative correlations with A and E/E'. CONCLUSION The cardiac growth parameters related alterations of E/E' may suggest that diastolic myocardial velocities are cardiac growth dependent, and diastolic function has positive correlation with cardiac growth in pediatric group. This cardiac growth related myocardial functional variation would be important for assessment of cardiac involvement either in healthy and sick child.

Dear Editor, Abnormalities involving the proximal segment of the long arm of chromosome 14 (14q) are rare. Clinical phenotypes of duplications on 14q vary, with autistic disorder, mental retardation, delayed development, and dysmorphic features being the common phenotypes [1,2,3]. Several studies have attempted to elucidate the correlation between these clinical phenotypes and candidate genes. However, because of insufficient reports and genetic studies, establishing a correlation between genotype and the corresponding phenotype has been difficult. In this study, we report a newborn with an 18.3 Mb large duplication in the 14q11.2q21.1 that was identified by a chromosomal microarray. Our case was a 1-month-old newborn girl born at 41 weeks of gestation through vaginal delivery. She was the third child, and her parents were both 33 yr old. Her mother had an obstetric history of gravida 4, para 3, and abortus 1. The first and second children did not have developmental problems or intellectual disabilities, and there was no family history. The birth weight, height, and head circumference of the patient were within normal ranges (2,940 g [3rd-10th percentile], 47.5 cm [10th-25th percentile], and 32.5 cm [10th-25th percentile], respectively). Cardiac murmur was detected, and hypoxemia (SpO2, 68-85%) was observed after birth. Echocardiography indicated a ventricular septal defect, pulmonary stenosis, and an overriding aorta, correlating to tetralogy of Fallot (TOF). The patient had bilateral clubfoot. However, other dysmorphic features in the extremities and face were unnoticeable. G-banding chromosome analysis of phytohemagglutinin (PHA) stimulation on cultured lymphocytes from peripheral blood showed an insertion in the proximal segment of 14q in all 25 metaphase cells (Fig. 1). At the level of 550-band resolution, the breakpoint and origin of the inserted fragment could not be clearly identified. We further investigated copy number alterations using Cytoscan 750K array (Affymetrix, Santa Clara, CA, USA). An approximately 18.3-Mb gain from 14q11.2 to 14q21.1 (chr14:20,516,277-38,826,881) was identified (Fig. 2). The karyotype was 46,XX,dup(14)(q11.2q21).arr 14q11.2q21.1 (20,516,277-38,826,881)x3 according to the International System for Human Cytogenetic Nomenclature (2013). Chromosome analyses in both parents showed normal karyotypes, indicating a de novo duplication mechanism. Fig. 1 G-banding chromosome analysis showed a duplication in the proximal segment of the long arm of chromosome 14 (indicated by red brackets). Fig. 2 Microarray analysis of chromosome 14 showed an 18.3-Mb duplication in the 14q11.2q21.1 (20,516,277-38,826,881) region (indicated by the blue bar). Compared with other patients with 14q duplications, our patient showed multiple cardiac anomalies. We found 47 duplication cases in the 14q11.2q21.1 region from DECIPHER (DatabasE of Chromosomal Imbalance and Phenotype in Human using Ensemble Resources, http://www.decipher.sanger.ac.uk). The most frequent phenotypes were intellectual disability (34.0%) and autism (19.1%); only two patients showed cardiac anomalies. One patient (DECIPHER ID: 283016) with a 0.39-Mb duplication in 14q12 (chr14:29,829,325-30,220,298) had autistic spectrum disorder, malformation of the heart and great vessels, nystagmus, and TOF. The other patient (DECIPHER ID: 287854) with a 0.37-Mb duplication in 14q11.2 (chr14:20,424, 580-20,796,696) had a hypoplastic right heart and malformation in the heart and great vessels. The 18.3-Mb duplication observed in our patient was large enough to be detected by chromosomal analysis. This region contains 446 genes and is associated with 32 phenotypes (NCBI database: http://www.ncbi.nlm.nih.gov/mapview/maps.cgi? [Build 35]). The only cardiac anomaly-associated gene in this region is myosin heavy chain 6 (MYH6) [4]. However, a missense mutation in MYH6, not a duplication, is known to be associated with cardiac anomalies. Most congenital heart defects arise from abnormal heart development in embryogenesis. During heart development, the dose of a gene product available at a specific time and location is important for normal cardiogenesis [5]. Hence, the cardiac anomalies observed in our patient may have resulted from dosage imbalances during cardiac development. Monfort et al. [2] reported that quantitative trait loci (QTLs) in 14q11.2 controlled stature. Similarly, we propose that the duplication observed in our patient supported the presence of a putative QTL in 14q that controlled heart development. The current results indicated that a duplication in chromosome 14 could lead to congenital heart defects. Clubfoot can be associated with chromosomal abnormalities [6,7]. Six patients from DECIPHER (ID: 1366, 248559, 249644, 249887, 277167, and 279247) have anomalies of the extremities and overlapping duplicated regions with our case. The critical region for anomalies of extremities is still uncertain, because there was no common region among these cases. Two patients (nssv578665, nssv578667) with 19-Mb duplications overlapping with the 14q11.2q21.1 region have been reported in the International Standards for Cytogenomic Arrays database (http://www.ncbi.nlm.nih.gov/dbvar/). Both had facial dysmorphism, hypertonia, intellectual disability, and developmental delay. Because of the young age of our patient, intellectual disability and delayed development could not be evaluated. Follow-up examinations for expected phenotypes are necessary. Thus, we confirmed an insertion of unknown origin in a congenital heart defect case using chromosomal microarray analysis. Chromosomal microarray is useful for determining the size and precise breakpoints of abnormalities, regardless of whether they could be detected by G-banding analysis.

Objective To evaluate flow pattern characteristics in the ascending aorta (AA) with four-dimensional (4D)-flow MRI and to determine predictors of aortic dilatation late after tetralogy of Fallot (TOF) repair. Materials and Methods This study included 44 patients with repaired TOF (25 males and 19 females; mean age, 28.9 ± 8.4 years) and 11 volunteers (10 males and 1 female, mean age, 33.7 ± 8.8 years) who had undergone 4D-flow MRI. The aortic diameters, velocity, wall shear stress (WSS), flow jet angle (FJA), and flow displacement (FD) at the level of the sinotubular junction (STJ) and mid-AA were compared between the repaired TOF and volunteer groups. The hemodynamic and clinical parameters were also compared between the aortic dilatation and non-dilatation subgroups in the repaired TOF group. Results The diameters of the sinus of Valsalva, STJ, and AA were significantly higher in the repaired TOF group than in the volunteer group (p = 0.002, p < 0.001, and p = 0.013, respectively). The FJAs at the STJ and AA were significantly greater in the repaired TOF group (p < 0.001 and p = 0.003, respectively), while velocities and WSS parameters were significantly lower. FD showed no statistically significant difference (p = 0.817). In subgroup analysis, age at TOF repair was significantly higher (p = 0.039) and FJA at the level of the AA significantly greater (p = 0.003) and mean WSS were significantly lower (p = 0.039) in the aortic dilatation group. FD were higher in the aortic dilatation group without statistical significance (p = 0.217). Conclusion Patients with repaired TOF have an increased FJA, dilated AA, and secondarily decreased WSS. In addition to known risk factors, flow eccentricity may affect aortic dilatation in patients with repaired TOF.

Background and Objectives This study aimed to describe our early to mid-term experience with transcatheter atrial septal defect (ASD) closure using the Occlutech Figulla® Flex II device (FSO), Gore® Cardioform septal occluder (GSO), and Amplatzer® septal occluder (ASO) after they were first approved in Korea in 2014, and to compare the three aforementioned kinds of ASD closure devices. Methods Between September 2014 and August 2016, 267 patients underwent transcatheter ASD closure in our institution. Baseline characteristics, hemodynamic features, comorbidities, and procedural success and complication rates were analyzed retrospectively. The unpaired Student t-test or variance analysis was used in the statistical analysis. Results The FSO was most commonly used (n=152, 56.9%), followed by the ASO (n=98, 36.7%) and GSO (n=17, 6.4%). Baseline characteristics and hemodynamic features were similar between the devices, except that the defect size and pulmonary flow-to-systemic flow ratio were lower in the GSO group than in the other groups. Overall, the procedural success rate remained at 100%, and major complication rate was

Background This study aimed to compare procedural, early and long-term outcome of device closure of atrial septal defect (ASD) between large ASD patients and very large ASD patients. Methods We carried a retrospective study of adult large ASD (defined as ≥25 mm) treated by percutaneous closure using Amplatzer septal occluder during 12-year period (May 2003–February 2015) at a single tertiary center. A total of 269 patients were divided into 2 groups, according to the pre-procedural maximal ASD diameter; 25 mm≤ASD

BACKGROUND AND OBJECTIVES Prolonging of the corrected QT interval (QTc) has been reported after cardiac surgery in some studies. However, there have not been many studies on infant open cardiac surgery for ventricular septal defect (VSD) repair. This study was performed to define the changes in QTc and to find related post-surgery factors in this patient group. SUBJECTS AND METHODS From 2008 to 2012, 154 infants underwent VSD repair at the Severance Cardiovascular Hospital. This study includes 105 of these cases. QTc was measured in these patients retrospectively. Demographic data and peri-procedural data, such as Aristotle score, cross-clamp time and bypass time, were analyzed. The exclusion criteria included multiple and small VSDs that underwent direct closure. RESULTS Mean post-operative QTc was increased compared to the pre-operative measurements (from 413.6±2.3 to 444.9±2.5, p

Erythromelalgia is a rare clinical syndrome characterized by erythema, increased temperature, and severe burning pain that can be aggravated by warmth or relieved by cold. Erythromelalgia occurs either as a primary, idiopathic form, or secondary to a number of diseases and conditions. Although fairly well studied in adults, the characteristics, pathogenesis, and natural history are poorly characterized in the pediatric age group. Different therapeutic options have been tried, but no optimal treatment has been suggested for erythromelalgia. We report a rare case of linear erythromelalgia in a 12-year-old girl involving her central body from the peripheral extremities, which seemed to be secondary due to vasculitis. Clinical progress waxed and waned on maintenance aspirin and propranolol.

Objective: Obesity is linked to inflammatory processes and an imbalance in proand anti-inflammatory cytokines. A previous study revealed that early obesity causes increased cellular turnover and compensatory up-regulation of AT2 receptors in the rat heart. We surveyed the effect of early obesity on the imbalance of inflammatory cytokines according to changes in cellular components. Material and Methods: Early obesity was induced by overfeeding rat pups for 28 days. The normal litter (NL) had 10 male pups and the small litter (SL) had 3 male pups per dam. We measured body weight, serum glucose, and Masson trichrome (MT) stain. Western blotting to detect inflammatory cytokines was performed using antibodies against metalloproteinase 9 (MMP-9), tissue inhibitor of MMPs type 1 (TIMP-1) and adipokines, including adiponectin, plasminogen activator inhibitor 1 (PAI-1), and tissue necrosis factor-α (TNF-α), and monocyte chemotactic protein 1 (MCP-1) and an anti-CD68 antibody of tissue macrophages (ED-1). Results: Body weight and heart weight were significantly increased, but relative heart weight (heart weight / body weight) was significantly decreased in the SL (P < 0.001*). Both collagen and glucose in the SL were increased, but these increases were not statistically significant. Protein expression of MMP-9 (P < 0.001*), PAI-1 (P < 0.001*), and adiponectin (P = 0.009) was increased, but changes in TIMP-1, TNF-α, ED-1, and MCP-1 were not significant in the SL. (all data are 95% confidence interval) Conclusions: Early obesity induces increases in collagen and inflammatory cytokines. However, the anti-inflammatory effects of adiponectin protect the heart in early obesity and those effects of adiponectin should be investigated.

Background and Objectives Obesity has reached epidemic proportions globally and affects people of all ages. Recent studies have shown that visceral adipose tissue measured by magnetic resonance imaging and/or computed tomography correlates positively with epicardial adipose tissue. Epicardial fat, which is correlated to several metabolic parameters, can be assessed by echocardiography. The aim of this study was to evaluate epicardial fat thickness and other metabolic parameters in obese adolescents and investigate the correlation between epicardial fat thickness and other metabolic parameters in obese adolescents. Subjects and Methods We selected 99 subjects, between ages 15-17 years of age, to be enrolled in this study. Sixty five obese adolescents with a body mass index (BMI) >95 percentile and 34 control subjects were included in this study. Echocardiographic measurements including epicardial fat thickness as well as anthropometric and blood pressure (BP) measurements were performed. The following parameters were estimated: blood glucose, total cholesterol, triglyceride, high density lipoprotein-cholesterol, low density lipoprotein-cholesterol, aspartate aminotransferase, alanine aminotransferase, free fatty acid, interleukin-6, tumor necrosis factor-α, leptin, adiponectin and high sensitive C reactive protein. Results The obese group showed a statistically significant correlation with echocardiographic epicardial fat thickness and, BMI, waist circumference, obesity index, fat percentage, systolic BP, insulin level, leptin and adiponectin. Multivariate linear regression analysis showed epicardial fat thickness as the most significant independent parameter to correlate with obese adolescents. Conclusion These data suggest that epicardial fat thickness measured by echocardiography is a practical and accurate parameter for predicting visceral obesity.

Method The medical records of 42 patients (20 male, 47.6 %) who underwent 59 mechanical valve replacements between March 1992 and February 2014 were reviewed, retrospectively. Median age of the patients was 11.0 years (range, 9.1 months to 17.6 years) and 15 patients (25.4%) were less than 5 years. Congenital valve disease was the most common diagnosis (n = 16, 27.6%). Mitral valve replacement was performed in 39 patients, followed by aortic valve in 12 patients, pulmonic valve in five patients. Double valve replacements were performed in two patients. Mechanical valve was used in 51 cases (83.6%). The median valve size was 23 mm (range, 16 to 33 mm), and the median follow-up duration after valve replacement was 6.0 years (range, 15 days to 21.7 years). Events were defined as the following: thrombosis, embolism, bleeding, reoperation, and death.

Background: Idiopathic cardiomyopathies (CMPs) are an important heterogeneous group of diseases. With the advance of therapeutic strategies, epidemiologic data on CMP have become very important, but only a few have been reported in Asian children. We conducted a retrospective epidemiologic study of primary CMP in Korean children. Methods and Results: Using a multicenter survey, we studied primary CMP among Korean children from January 1998 to December 2006 based on classification (2006) of CMP by the American Heart Association. A total of 277 primary CMP patients were reported from 17 cardiovascular centers. The average annual occurrence of new cases of primary CMP was 0.28 per 100,000 Korean children younger than 15 years of age (95% confidence interval (CI) 0.24-0.31). Dilated CMP (DCMP) was 66.43%, hypertrophic CMP (HCMP) 23.47%, restrictive CMP (RCMP) 6.50% and others 3.61%. The point prevalence of primary CMP at the end of the study was estimated as 2.11/100,000 (95%CI 1.83-2.43), DCMP 1.39/100,000, HCMP 0.51/100,000, RCMP 0.16/100,000 and others 0.04/100,000. Survival rates over 9 years were 69.8% in DCMP, 90.3% in HCMP, and 47.2% in RCMP. Conclusions: Recent point prevalence of childhood primary CMP in Korea was estimated as 2.11/100,000. Further epidemiologic study with a nationwide survey is necessary. (Circ J 2011; 75: 2228-2234)

Background and Objectives: Diagnosis of Kawasaki disease (KD) is based on 5 clinical features. Incomplete KD (IKD), which has fewer features, is more common in infants and older children, in whom the rate of coronary artery aneurysms is paradoxically higher. We conducted this study to evaluate risk factors associated with age-at-diagnosis on coronary arterial lesions (CAL) in patients with IKD. Subjects and Methods: Retrospective data from 396 patients with KD in a single center were collected from January 2003 to July 2007. Patients were grouped according to their age at diagnosis; Group A (

Background: Kawasaki disease(KD) is an immune related multisystemic inflammatory vasculitis in children, especially ensues coronary artery lesions. Several cardiovascular diseases are known to be correlated with sodium level. In this study, we examined the association between serum sodium levels and the severity of coronary artery lesion in acute phase of Kawasaki disease. Objective: The purpose of this study was to determine the association of serum sodium level for predicting cardiac events in Kawasaki disease (KD) patients especially in coronary artery lesions (CALs). Methods: We conducted a retrospective review of the medical records of 158 Kawasaki disease patients from June 2013 to August 2014. We devided the subjects into two groups regarding to the serum sodium level. Various laboratory tests and echocardiographic data were analyzed. Student t-tests were carried out to analyze the significance of the difference in each group. Results: ESR, CRP, BNP, and liver enzymes were significantly greater in lower sodium group. Echocardiographic diastolic marker of mitral E and E/E’ measurement were statistically different. Coronary arterial changes were significant in lower sodium group as well. Conclusions: The lower sodium group demonstrated significant increase of various inflammatory markers and coronary arterial lesions. The sodium level might be associated with the severity of coronary vessel and cardiac inflammation in acute phase of Kawasaki disease.

Abstract: Kawasaki disease(KD) is acute vasculitis in childhood. The authors report the 12-month-old girl with initial presentation of cardiac murmur who was diagnosed incomplete KD. Case: A 12-month-old girl with history of 3 days fever up to 38°C and upper respiratory symptoms including rhinorrhea visited a pediatric clinic. Cardiac murmur was noticed, then she was referred to Pediatric Cardiology clinic. She had loss of appetite and her growth curve showed severely underweight of 8.4kg(less than 3p) compared to height 78cm(50~75p). On hospital day 1, laboratory studies revealed a white blood cell (WBC) 9.4(seg73%, Lym23%)x 103/uL, hemoglobin concentration(Hb) of 5.5 g/dL with hematocrit(Hct) 21%, platelet count 426,000/uL. And laboratory results included ESR 2mm/hr, C-reactive protein 0.05mg/L, AST/ALT 31/19 IU/L, Ferritine 13 ng/mL, TIBC 510ug/dL, Transferrin Saturation Index 2.5% and MCV 50.4fL, MCH 13.4pg, MCHC 26.5g/dL. She had grade II-III/VI end-systolic & early diastolic murmur. The echocardiography showed left main coronary artery dilatation and pericaridial effusion. Based on diagnosis of incomplete Kawasaki disease and iron deficiency anemia, she treated with IVIG(IV gamma globulin), acetylsalicyclic acid, packed RBC transfusion and supplement of oral iron. On hospital day 2, repeat laboratory studies revelaed Hb 6.5 g/dL, and the murmur decreased rapidly. 6 days later Hb was 9.3 g/dL. Pro-BNP was 352 pg/ml on hospital day 1 and repeat studies revealed 978 pg/ml on hospital day 2, 84pg/ml on hospital day 8. The patient was discharged 8 days after admission(on day 11 of her illness) without fever. After 1 month of discharge, she had gained weight to 10.5kg and laboratory study results Hb 11.0 g/dL. And follow-up echorcardiography showed improvement of coronary arteries. The authors report one child presenting with heart murmur under incomplete Kawasaki disease.