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Background: To compare and analyze the safety and efficacy of fast-track and conventional anesthesia for transthoracic closure of ventricular septal defects (VSDs) in pediatric patients., Methods: A total of 82 pediatric patients undergoing transthoracic closure of VSDs between September and December 2017 were retrospectively analyzed. The patients were divided into two groups, including 42 patients in group F (fast-track anesthesia) and 40 patients in group C (conventional anesthesia). The perioperative clinical data of both groups were collected and statistically analyzed., Results: There were no fatal complications in both groups. No complete atrioventricular block (AVB), new aortic valve regurgitation, and device closure failure were observed. No significant difference was found in preoperative general data or intraoperative hemodynamic changes between the two groups (P >0.05). However, the mechanical ventilation time, length of postoperative intensive care unit (ICU) stay, length of hospital stay, and hospitalization expenses of group F were significantly lower than those of group C (P <0.05)., Conclusion: It is safe and effective to use fast-track anesthesia for transthoracic closure of VSDs in pediatric patients.

Background: Ventricular septal defect (VSD) is a lethal complication of acute myocardial infarction (AMI) and is often associated with cardiogenic shock. The optimal form of percutaneous mechanical circulatory support (MCS) for AMI-VSD is unknown., Methods and Results: We used a previously validated cardiovascular model to simulate AMI-VSD with parameters adjusted to replicate average hemodynamics reported in the literature, including a pulmonary-to-systemic blood flow ratio of 3.0. We then predicted effects of different types of percutaneous MCS (including intra-aortic balloon pumping, Impella, TandemHeart, and extracorporeal membrane oxygenation) on pressures and flows throughout the cardiovascular system. The simulation replicated all major hemodynamic parameters reported in the literature with AMI-VSD. Inotropes and vasopressors worsened left-to-right shunting, whereas vasodilators decreased shunting at the expense of worsening hypotension. All MCS devices increased forward blood flow and arterial pressure but other effects varied among devices. Impella 5.0 provided the greatest degree of pulmonary capillary wedge pressure reductions and decreased left-to-right shunting. Extracorporeal membrane oxygenation worsened pulmonary capillary wedge pressure and shunting, which could be improved by adding Impella or passive left ventricular vent. Pulmonary-to-systemic blood flow ratio could not be reduced below 2.0, and pulmonary flows remained high with all forms of MCS., Conclusions: Although no form of percutaneous MCS normalized hemodynamics in AMI-VSD, pulmonary capillary wedge pressure and shunting were worsened by extracorporeal membrane oxygenation and improved by Impella. Accordingly, based on hemodynamics alone, Impella provides the optimal form of support in AMI-VSD. However, other factors, including team experience, device availability, potential for tissue ingestion, and clinical characteristics, need to be considered when choosing a percutaneous MCS device for AMI-VSD.

Background: Repair of doubly committed subarterial ventricular septal defects (DCVSD) via a minimal mid-partial sternotomy has not been reported. We aimed to evaluate the feasibility and safety of this procedure., Methods: We retrospectively reviewed all patients with a clinical diagnosis of DCVSD and underwent repair via minimal mid-partial sternotomy at our institution. Patient characteristics, perioperative, and follow-up data were collected., Results: A total of 13 patients who underwent minimal mid-partial sternotomy DCVSD repair were analyzed. Postoperative echocardiogram revealed that no patient had the residual shunt. No patient reported adverse event during postoperative course. There was no perioperative or late death during follow-ups. All patients were satisfied with the inconspicuous scar., Conclusions: Minimal mid-partial sternotomy is a safe and effective approach for DCVSD repair with satisfied treatment outcomes and cosmetic benefits.

Aim: The purpose of this study is to describe the special aspects of perimembranous ventricular septal defects (pmVSD) closure by utilizing Amplatzer Duct Occluder II (ADO II) devices with a rational request for bigger ADO-II sizes, based on our experience in transcatheter device closure of pmVSD., Methods and Results: At our institution, placement of an ADO II device was used in 15 patients with pmVSD; the patients' age ranged between 6 months and 20 years. The indications for closure were CHF (n = 4), hemodynamically significant shunt (n = 7), tricuspid regurgitation (n = 3), and high risk for infective endocarditis (n = 2), respectively. The location of the VSD was infracristal in 13 patients, supracristal in 1, and a postsurgical Gerbode VSD in another one. Implantation of the device was successfully performed without embolization, any evidence of an AV block, or other conductance abnormalities during implantation and follow-up in the mean of 2.5 years (range 2 months-6.5 years)., Conclusions: Transcatheter closure of a pmVSD with ADO II is feasible in all pediatric and young adult age groups, by considering the device diameter limitations. The off-label use of ADO II implantation seems to be safe for VSDs closure up to 6 mm of size and feasible for various locations including unusual morphology such as postsurgical Gerbode defect., (© 2018 Wiley Periodicals, Inc.)

Background: The long-term evolution of pulmonary vascular resistance (PVR) after ventricular septal defect (VSD) repair is unknown. This study serially evaluated resting and exercise PVR after VSD repair in childhood., Methods: Patients were enrolled from the outpatient Adult Congenital Heart Disease clinic of the University Hospitals Leuven and compared to age- and gender-matched controls. Participants underwent resting and exercise echocardiography and cardiopulmonary exercise testing at baseline and follow-up. Total PVR was calculated as the ratio of mean pulmonary artery pressure (mPAP) to cardiac output (CO). The slope of the mPAP-CO curve (exercise PVR) was obtained using linear regression analysis., Results: Twenty-seven patients (mean age 31 ± 7 years, 70% male) and 18 controls were included. At baseline, patients had larger right ventricular (RV) end-diastolic areas (10 ± 2 vs 9 ± 1 cm 2 /m 2 , p = 0.001) and lower tricuspid annular plane systolic excursion (TAPSE) (17 (17-19) vs 26 (22-28) mm, p < 0.001). After 1.1 (1.0-1.5) years follow-up, similar differences in RV areas and TAPSE were found. Patients reached lower peak workload and cardiac index compared to controls at each time point. Peak total PVR was higher (Baseline: 2.7 ± 0.8 vs 2.2 ± 0.3 mm Hg/L/min, p = 0.005; Follow-up: 2.9 ± 0.9 vs 2.1 ± 0.3 mm Hg/L/min, p < 0.001) and the mPAP-CO slope was steeper (Baseline: 2.2 ± 0.8 vs 1.7 ± 0.3 mm Hg/L/min, p = 0.008; Follow-up: 2.5 ± 0.9 vs 1.6 ± 0.3 mm Hg/L/min, p < 0.001) in patients. The mPAP-CO slope in patients correlated inversely with peak oxygen uptake (R = -0.41 and - 0.45, p = 0.036 and 0.022, baseline and follow-up, respectively)., Conclusion: Despite repair, VSD patients seem to show altered pulmonary hemodynamics and RV impairment at rest and exercise, supporting life-long follow-up., (Copyright © 2018 Elsevier B.V. All rights reserved.)

This image illustrates the feasibility of percutaneous closure of perimembranous ventricular septal defect occluder in a patient with mechanical aortic valve replacement utilizing a novel venous-arteriovenous loop, and emphasizes the importance of concomitant fluoroscopic and echocardiographic guidance in structural heart interventions.

Surgical treatment of multiple ventricular septal defects (VSDs) has advanced significantly in recent years, yet remains technically challenging. With high rates of complications and reoperations, we sought to assess the outcomes of patients undergoing a variety of management techniques for multiple VSDs. From 1988 to 2015, 157 consecutive patients underwent surgical management of multiple VSDs at a median age of 2.2 months (2 days-16 years). Sixty-nine patients (44%) had exclusively multiple VSDs, 62 patients (39%) had multiple VSDs with concomitant intracardiac anomalies, and 26 patients (17%) had multiple VSDs with aortic arch anomalies. The predominant techniques used at the initial operations were patch closure (84 patients), pulmonary artery band (83 patients), suture closure (37 patients), and sandwich technique (13 patients). Eighteen patients underwent ventriculotomies. There were 3 hospital deaths (2%). Mean follow-up time was 8.6 ± 6 years (1 day-22 years). Four patients died during follow-up, whereas freedom from reoperations was 52% (95% confidence interval 42-61%) at 16 years. Freedom from reoperation was significantly lower in the 1988-2002 era than in the post-2002 era (38% vs 73%, P = 0.016). Pacemaker implantation was ultimately required in 9% (14 of 150) of patients. No deleterious impact of a ventriculotomy could be detected. Surgical treatment of multiple VSDs can be performed with excellent short- and long-term survival, and normal late functional outcome, however, carries a significant rate of reoperation. The recent inclusion of absorbable pulmonary artery bands and the sandwich technique appear safe and are useful adjuncts in these patients., (Copyright © 2018 Elsevier Inc. All rights reserved.)

Clinical Introduction: A 23-year-old woman followed at another medical centre for congenital heart disease (CHD) presented to our emergency clinic with 3 weeks of bilateral pleuritic chest pain. She returned from holiday in Greece 6 weeks earlier where a tattoo and nasal piercing had been performed. There was no history of night sweats or fever.Her temperature was 37.5°C, heart rate 120 beats/min, oxygen saturations 94% on room air and blood pressure 110/74. Her chest was clear and there was systolic murmur on auscultation. The chest radiograph showed peripheral bilateral lower zone atelectasis. The ECG demonstrated sinus tachycardia. The haemoglobin was 11.2 g/dL, white cell count 10.18×10 9 /L, C-reactive protein 67 mg/L (normal <5 mg/L) and D dimer=430 ng/mL (normal <230 ng/mL).A pulmonary embolus was suspected and a CT pulmonary angiogram was performed (figure 1)., Question: Based on the CT findings, what is the most likely underlying congenital heart lesion in this patient?Bicuspid aortic valveCoarctation of the aortaFontan circulationParachute mitral valveVentricular septal defect heartjnl;105/6/464/F1F1F1Figure 1CT pulmonary angiogram (coronal views)., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.)

Background Intravenous sufentanil-midazolam and inhalational sevoflurane are widely used for anesthetic induction in children undergoing cardiac surgery. However, knowledge about their effects on hemodynamics and cardiac efficiency remains limited due largely to the lack of direct monitoring method. We used minimally invasive technique pressure recording analytical method (PRAM) to directly monitor hemodynamics and cardiac efficiency and compared the effects of the two anesthetic regimens in children undergoing ventricular septal defect repair. Methods Forty-Four children (2.3±0.9 years) were randomly divided into two groups to receive either intravenous sufentanil (1 μg/kg) and midazolam (0.2 mg/kg) (Group SM) or 2.0 minimal alveolar concentration (MAC) sevoflurane (Group S) to complete induction after sedation was obtained with 2.0 MAC sevoflurane. Systemic hemodynamic data recorded by PRAM included heart rate (HR), systolic (SBP) and mean (MBP) blood pressure, stroke volume index (SVI), cardiac index (CI), systemic vascular resistance index (SVRI), the maximal slope of systolic upstroke (dp/dtmax) and cardiac cycle efficiency (CCE) after sedation obtained, 1, 2, 5 min after induction achieved, 1, 2, 5 and 10 min after intubation. Results HR, SVRI showed a decrease in Group SM but an increase in Group S (Ptime*group<0.0001) in the study period. SVI and CCE showed an increase in Group SM but a decrease in Group S (Ptime*group<0.0001). SBP, MBP and CI were related to time after polynomial transformation, and showed an increase after intubation in Group SM but a decrease in Group S (Ptime2*group<0.0001). Conclusion PRAM provides meaningful and direct monitoring of hemodynamics and cardiac efficiency during the dynamic period of anesthetic induction in children undergoing cardiac surgery. As compared to inhalational sevoflurane, intravenous sufentanil-midazolam exerts more favorable effects on systemic hemodynamics and cardiac efficiency during anesthetic induction in this group of patients.

Purpose: We evaluated ventricular rotation, torsion, and strain changes in infants using preoperative and postoperative M-mode echocardiography after early surgery for symptomatic ventricular septal defects (VSD)., Methods: Thirty-five patients with VSD underwent vector velocity imaging echocardiography before and after open heart surgery. Their rotational variables were compared with 18 controls., Results: All the patients (19 boys and 16 girls; median age: 44.4 days; range: 13-84 days) showed normal septal motion preoperatively; however, septal motion changed into flat septum or paradoxical septal motion after surgery. Left ventricular end-diastolic internal dimension and fractional shortening significantly decreased after surgery (P = .001 and P = .000). Patients showed significant postoperative reduction of peak systolic apical rotation and maximal torsion (P = .010 and P = .000). Peak systolic basal rotation decreased after surgery but it was not significantly (P = .106). No significant differences were found in longitudinal and circumferential systolic strains between patients and controls., Conclusion: Abnormal motion of the ventricular septum was confirmed by postoperative M-mode echocardiography. Decreased rotation/torsion variables may reflect postoperative changes of ventricular loading conditions. Because systolic strain was preserved, postoperative echocardiographic results should not be interpreted as abnormal or decreased ventricular function., (© 2018 Wiley Periodicals, Inc.)

Background: The long-term outlook after surgical closure of ventricular septal defect (VSD) has traditionally been considered benign. However, there is an increasing awareness of not only late cardiac dysfunction, but also pulmonary abnormalities. The primary aim of this study was to describe pulmonary function in adults with a surgically repaired VSD, and secondarily to determine the effects of salbutamol on the potential abnormalities., Methods: All patients (operated for a VSD in early childhood) and controls (age- and gender-matched) underwent static and dynamic spirometry, impulse oscillometry, multiple breath washout, diffusion capacity for carbon monoxide, and cardiopulmonary exercise testing. In a double-blinded, cross-over study, participants were randomized to inhalation of either 900 μg of salbutamol or placebo. The primary outcome was forced expiratory volume in 1 s., Results: In total, 30 participants with a surgically closed VSD and 30 healthy controls were included. The VSD participants had a lower forced expiratory volume in 1 s (99 ± 13% vs. 111 ± 13%), p < 0.001, impaired forced vital capacity, (106 ± 12% vs. 118 ± 13%), p < 0.001, and lower peak expiratory flow, (95 ± 18% vs. 118 ± 19%), p < 0.001, than the control group. Also, the VSD group had a lower alveolar volume than the control group, (92 ± 10% vs. 101 ± 11%), p < 0.001, but there were no differences in the remaining pulmonary function parameters. Salbutamol reduced airway resistances in both groups, but exercise performance was not improved by salbutamol, however., Conclusions: Adults who have undergone surgical closure of a VSD in early childhood have reduced pulmonary function compared with controls, which is unaffected by inhalation of salbutamol., (Copyright © 2018 Elsevier B.V. All rights reserved.)

Objective: We sought to evaluate the feasibility, technical aspects, and outcome of transcatheter perimembranous ventricular septal defect (pmVSD) closure using duct occluder devices with a single retention disc., Background: Use of duct occluder devices to close pmVSD seems a promising alternative therapy. However, limited data exist on this technique., Methods: From 2010 to 2016, 222 patients (female 47.7%) were identified from databases of five participating institutions in whom pmVSD closure was attempted using an Amplatzer Duct Occluder I or Lifetech duct occluder device., Results: Patients ranged in age from 0.7 to 52 years (median, 7.0 years) and in weight from 4.0 to 70 kg (median, 18.0 kg). The mean size of the VSD was 6.8 ± 2.2 mm. A large defect (> 6 mm) was present in 137 patients (61.7%). Device closure was successful in 218 patients (98.2%). The 10/8 mm device was used in most patients (n = 85, 38.3%), and the vascular approach was from the femoral vein in 169 patients (76.1%). There were 18 early complications in 17/218 patients (7.8%). Three patients (1.4%) developed complete heart block (transient n = 2; requiring permanent pacing n = 1). Median follow-up was 6 months (6 months-6 years). A mild residual shunt was seen in 10 patients at 6 months follow-up., Conclusions: The immediate results of transcatheter pmVSD closure using a duct occluder device with a single retention disc are promising. It is an effective technique with a lower rate of complications than for other currently available devices., (© 2018 Wiley Periodicals, Inc.)

Background: Ventricular septal defects (VSDs) generally have benign long-term prognoses, but recent studies have indicated increased pulmonary vascular resistance. A potential tool for monitoring pulmonary artery pressure is heart rate variability, and therefore, the aim of this study was to assess heart rate variability in adults with a surgically repaired or unrepaired VSD., Methods: In a long-term, follow-up study, three groups were included; VSD-patients operated in early childhood, patients with an open VSD, and controls. For each patient, 24-hour Holter monitoring was performed and heart rate variability was assessed., Results: In total, 30 participants with a surgically closed VSD, 30 participants with an unrepaired VSD, and 36 controls were included. In the closed VSD group, there was a higher proportion of participants, who had low sNN50 (p = 0.005) and low sNN6% (p = 0.017) than in the other two groups. Similar differences were found when sNN50 was divided into increases and decreases (p = 0.007 and p = 0.005, respectively) as well as sNN6% (p = 0.014 and p = 0.014, respectively). Lastly, there was a higher proportion of patients in the closed VSD group with low rMSSD than in the other two groups (p = 0.005). For the closed VSD group, the proportion of participants with low total sNN50 (p = 0.046) and low total sNN6% (p = 0.046) were higher among participants with a complete right bundle branch block (RBBB) than among participants with no or an incomplete RBBB., Conclusions: Adults who had surgical VSD closure in early childhood had impaired heart rate variability and, particularly, participants with complete RBBB had lower heart rate variability., (Copyright © 2018 Elsevier B.V. All rights reserved.)

Background: Floating-Harbor syndrome (FHS) is a rare condition characterized by dysmorphic facial features, short stature, and expressive language delay., Objective: The aim of this study was to describe a cohort of patients with FHS and review the literature about the response to recombinant human growth hormone (rhGH) therapy., Methods: Anthropometric and laboratory data from 7 patients with FHS were described. The molecular diagnosis was established by multigene analysis. Moreover, we reviewed the literature concerning patients with FHS treated with rhGH., Results: All 7 patients were born small for gestational age. At first evaluation, 6 patients had a height standard deviation score (SDS) ≤-2 and 1 had short stature in relation to their target height. Bone age was usually delayed, which rapidly advanced during puberty. Nonspecific skeletal abnormalities were frequently noticed, and normal to elevated plasma IGF-I levels were observed in all except 1 patient with growth hormone deficiency. Information about 20 patients with FHS treated with rhGH was analyzed (4 from our cohort and 16 from the literature). The median height changes during the treatment period (approx. 2.9 years) were 1.1 SDS (range from -0.4 to 3.1). Nontreated patients had an adult height SDS of -4.1 ± 1.2 (n = 10) versus -2.6 ± 0.8 SDS (n = 7, p 0.012) for treated patients., Conclusion: We observed a laboratory profile compatible with IGF-1 insensitivity in some patients with FHS. Nevertheless, our study suggests that children with FHS may be considered as candidates for rhGH therapy. Further studies are necessary to establish the real benefit and safety of rhGH therapy in these patients., (© 2019 S. Karger AG, Basel.)

Objective: To analyze feasibility of closing perimembranous ventricular septal defect (pmVSD) with different devices by percutaneous approach and determining initial 1-year outcome of the procedure., Background: Transcatheter closure of pmVSD remains controversial due to a previous higher incidence of complete heart block (CHB), especially with the Amplatzer pmVSD occluder. Recently, several devices have been used to minimize the procedure-related complications., Methods and Materials: A retrospective longitudinal cohort study of 133 patients who underwent transcatheter closure of pmVSD from September 2009 to March 2015. The median age and weight at intervention were 7.1 years (ranging from 9 months to 28 years) and 21.2 kg (ranging from 6.4 to 93 kg)., Results: Transcatheter pmVSD closure was successfully performed in 129 cases (97%) using 13 different devices. There were two new onset severe aortic regurgitation (AR) (1.5%), one new onset severe tricuspid regurgitation (0.7%), and one CHB (0.7%). Immediately after procedure, 41 patients (30.8%) had mild to moderate residual shunt and 27 patients (20.8%) had trivial to mild AR. At 1 year, there was no CHB and 10 patients (9.6%) had tiny to mild residual shunt and 10 patients (9.6%) had trivial AR., Conclusion: With proper case selection, good expertise, and judicious use of various devices with respect to anatomic details of pmVSD, transcatheter closure is feasible with satisfactory early outcome., (© 2018 Wiley Periodicals, Inc.)

Background: Transthoracic device closure (TTDC) and surgical repair with right infra-axillary thoracotomy (SRRIAT) or with right submammary thoracotomy (SRSMT) are all the primary alternative treatments for restrictive perimembranous ventricular septal defect (pmVSD). However, few studies have compared them in terms of effectiveness and complications., Methods: Patients with restrictive pmVSD undergoing TTDC, or SRRIAT, or SRSMT from March 2016 to February 2017 were retrospectively reviewed in our cardiac center. There were no differences in age (1.3 ± 1.2 vs 1.1 ± 1.1 vs 1.2 ± 1.1 years), gender (35/37 vs 30/33 vs 29/29), body weight (8.3 ± 2.6 vs 8.2 ± 2.4 vs 8.1 ± 2.5 kg), and size of VSD (4.2 ± 1.1 vs 5.2 ± 1.3 vs 5.1 ± 1.2 mm) distribution between the three groups., Results: The procedure success rates were similar in the three groups. The TTDC group had the shortest operative time, postoperative mechanical ventilation time, duration of intensive care, postoperative length of hospital stay, medical cost, and length of the incision. There were no significant differences in terms of operative time, aortic cross-clamping time, duration of cardiopulmonary bypass (CPB), blood transfusion volume, mechanical ventilation time, duration of intensive care, duration of hospital stays, pleural fluid drainage, or cost between the SRSMT and SRRIAT groups. No significant differences were noted in terms of major adverse events., Conclusions: TTDC, SRRIAT, and SRSMT all showed excellent outcomes and cosmetic appearances for selected VSD patients. TTDC had advantages over SRRIAT and SRSMT in terms of short operation duration and smaller incision size and shorter durations of intensive care and hospital stays., Competing Interests: Disclosure The authors report no conflicts of interest in this work., (Georg Thieme Verlag KG Stuttgart · New York.)

Floating-Harbor syndrome is a rare condition marked by short stature and delayed bone age, characteristic facial features, and speech impairment. Floating-Harbor syndrome commonly results from a sporadic genetic mutation. Renal abnormalities have rarely been encountered. We report the first patient with Floating-Harbor syndrome who spontaneously passed a renal calculus consisting of calcium oxalate monohydrate and calcium oxalate dihydrate. A renal ultrasound showed echotexture within the renal pyramids, hydronephrosis, and a cyst. Pediatric nurse practitioners should be alert to the unique features associated with Floating-Harbor syndrome and be prepared to monitor and treat the renal abnormalities that may accompany this uncommon condition., (Copyright © 2018 National Association of Pediatric Nurse Practitioners. Published by Elsevier Inc. All rights reserved.)

Competing Interests: Competing interests: None declared.

Ventricular septal defects - large, surgically closed or small, untreated - have demonstrated lower peak exercise capacity compared with healthy controls. The mechanisms behind these findings are not yet fully understood. Therefore, we evaluated biventricular morphology in adults with a ventricular septal defect using MRI. Adults with either childhood surgically closed or small, untreated ventricular septal defects and healthy controls underwent cine MRI for the evaluation of biventricular volumes and quantitative flow scans for measurement of stroke index. Scans were analysed post hoc in a blinded manner. In total, 20 operated patients (22±2 years) and 20 healthy controls (23±2 years) were included, along with 32 patients with small, unrepaired ventricular septal defects (26±6 years) and 28 controls (27±5 years). Operated patients demonstrated larger right ventricular end-diastolic volume index (103±20 ml/m2) compared with their controls (88±16 ml/m2), p=0.01. Heart rate and right ventricular stroke index did not differ between operated patients and controls. Patients with unrepaired ventricular septal defects revealed larger right ventricular end-diastolic volume index (105±17 ml/m2) compared with their controls (88±13 ml/m2), p<0.01. Furthermore, right ventricular stroke index was higher in unrepaired ventricular septal defects (53±12 ml/minute/m2) compared with controls (46±8 ml/minute/m2), p=0.02, with similar heart rates. Both patient groups' right ventricles were visually characterised by abundant coarse trabeculation. Positive correlations were demonstrated between right ventricular end-diastolic volume indices and peak exercise capacity in patients. Left ventricle measurements displayed no differences between groups. In conclusion, altered right ventricular morphology was demonstrated in adults 20 years after surgical ventricular septal defect repair and in adults with small, untreated ventricular septal defects.

Objectives: To assess the safety and efficacy of percutaneous closure of perimembranous ventricular septal defect (PmVSD) using patent ductus arteriosus (PDA) occluders., Background: Widespread use of conventional PmVSD closure devices has been limited by unacceptable high rate of complete heart block (CHB). The elegant design of PDA occluders is supposed to ease implantation, increase closure rate and minimize damage to adjacent structures. Thus, PDA occluders may reduce complications, especially the CHB, and offer a good alternative for PmVSD closure., Method: From September 2008 to October 2015, patients who underwent attempted percutaneous VSD closure using PDA occluders were included in the study. Patient demographics, echocardiography measurements, procedure details and follow-up data until October 2017 were collected., Results: In total, 321 patients with a mean age of 15.5±12.6 years and mean a weight of 33.3±20.5 kg were included in this study. The mean defect size was 4.8±2.1 mm. Implantation was successful in 307 (95.6%) patients. The median follow-up time was 63 months (24 to 108 months). The closure rates were 89.5%, 91.5%, and 99.3% after the procedure 24 hours, 6 months and 2 years, respectively. Major complications occurred in 5 (1.7%) patients during the procedure and follow-up, including persistent CHB in 2 (0.7%) patients and device embolization in 3 (1.0%) patients. No death, disability, or other major complication was detected., Conclusion: Percutaneous closure of PmVSD using PDA occluders is feasible, safe and efficacious in selected patients., Competing Interests: The authors have declared that no competing interests exist.

Long term follow up studies have shown that transcatheter closure of perimembranous Ventricular Septal Defect (PmVSD) can be done safely and successfully. One of the most serious complications of VSD device closure is complete atrioventricular block which has been reported in 3-18% is various studies following VSD device closure. Amplatzar Duct Occluder II (ADO-II) device is now commonly being used for closure of small to moderate sized PmVSD. Complete heart block has not been reported with ADO-II device. We are reporting 2 cases of complete heart block following transcatheter closure of PmVSD using ADO-II device where sinus rhythm was established following early surgical removal of the device., (© 2017 Wiley Periodicals, Inc.)

Objective: We aimed to investigate the effect of ventricular septal defect (VSD) and heart failure on cerebral blood flow (CBF) in children, whether heart failure treatment improves CBF, and if there is any relationship between CBF and serum N-terminal pro-brain natriuretic peptide (NT-proBNP) level., Method: Forty children with VSD (13 with heart failure) aged between 1 and 36 months were studied. The control group comprised 25 healthy children in the same age group. Maximum, minimum, and mean blood flow velocities and pulsatility indices of the right and left middle cerebral arteries were assessed using transcranial Doppler ultrasonography. Measurements of CBF and serum NT-proBNP levels were repeated in patients with heart failure a month post-heart failure treatment initiation. The groups were also compared in terms of defect diameters, cardiac structural changes, left ventricular systolic function, and findings related to pulmonary hypertension determined by echocardiography. Correlations between echocardiographic measurements and CBF parameters were analyzed., Results: Although no significant difference was found between patient and control groups for CBF, right and left maximum CBF velocities significantly increased posttreatment in patients with heart failure (P = .04 and P = .01, respectively). Serum NT-proBNP levels in children with VSD associated with heart failure were significantly higher than those in children with VSD alone (P = .04) or in healthy children (P < .001). NT-proBNP levels were negatively correlated with right and left maximum CBF velocities (r = -0.39, P = .013 and r = -0.32, P = .043, respectively)., Conclusion: Although no significant difference was found in CBF velocity among the study groups, increase in the CBF velocity post heart failure treatment and negative correlations between CBF velocity and both the VSD diameter and NT-proBNP levels indicate that the hemodynamic status due to VSD associated with heart failure has an effect on CBF., (© 2018 Wiley Periodicals, Inc.)

Ventricular septal defect (VSD) including outlet VSD of double outlet right ventricle (DORV) and perimembranous VSD are among the most common congenital heart diseases found at birth. HOXB1 encodes a homeodomain transcription factor essential for normal cardiac outflow tract development. The aim of the present study was to investigate the possible genetic effect of sequence variations in HOXB1 on VSD. The coding regions and splice junctions of the HOXB1 gene were sequenced in 57 unrelated VSD patients. As a result, a homozygous c.74&#95;82dup (p.Pro28delinsHisSerAlaPro) variant was identified in one individual with DORV. We also identified five previously reported polymorphisms (rs35114525, rs12946855, rs14534040, rs12939811, and rs7207109) in 18 patients (12 DORV and 6 perimembranous VSD). Our study did not show any pathogenic alterations in the coding region of HOXB1 among patients with VSD. To our knowledge this is the first study investigating the role of HOXB1 in nonsyndromic VSD, which provide more insight on the etiology of this disease.

To describe the fetal regional myocardial strain rate in the membranous ventricular septum across gestation and to determine their predictive value for a complete membranous ventricular septum (without defect) after delivery. In 1150 fetuses, the peak systolic strain rate (SRs), peak early diastolic strain rate (SRe) and peak late diastolic strain rate (SRa) in the membranous ventricular septum were measured at four time points across gestation (18-20, 24-26, 30-32 and 36-38 weeks). The integrity of the interventricular septum was examined at 12 weeks' postnatal age. The correlations between myocardial strain rates and gestational age as well as fetal left ventricular mass were analyzed, and the performance of myocardial strain rates in predicting a complete membranous ventricular septum was deducted. Strain rate absolute values in the membranous ventricular septum all increased across gestation. They all significantly correlated with gestational age and left ventricular mass. At 24 weeks during pregnancy, the areas under the receiver operating characteristics curve (AUC) for SRe and SRa were all > 0.72 (p < 0.05) in predicting a complete membranous ventricular septum, while the AUC for SRs was only 0.55. The sensitivity, specificity and accuracy of the cut off value (> 1.53 s -1 ) for SRe was 62.5, 85.7 and 73.3%, respectively, and the sensitivity, specificity and accuracy of the cut off value (> 1.51 s -1 ) for SRa was 75.2, 71.9 and 73.8%, respectively. The changes of myocardial strain rates in the membranous ventricular septum across gestation maybe can be used to predict a complete membranous ventricular septum after delivery.

Objective: We sought to define the intrinsic stem cell capacity in pediatric heart lesions, and the effects of diagnosis and of age, in order to inform evidence-based use of potential autologous stem cell sources for regenerative medicine therapy., Methods: Ventricular explants derived from patients with hypoplastic left heart syndrome (HLHS), tetralogy of Fallot (TF), dilated cardiomyopathy (DCM) and ventricular septal defect (VSD) were analyzed following standard in vitro culture conditions, which yielded cardiospheres (C-spheres), indicative of endogenous stem cell capacity. C-sphere counts generated per 5 mm3 tissue explant and the presence of cardiac progenitor cells were correlated to patient age, diagnosis and echocardiographic function., Results: Cardiac explants from patients less than one year of age with TF and DCM robustly generated c-kit- and/or vimentin-positive cardiac mesenchymal cells (CMCs), populating spontaneously forming C-spheres. Beyond one year of age, there was a marked reduction or absence of cardiac explant-derivable cardiac stem cell content in patients with TF, VSD and DCM. Stem cell content in HLHS and DCM strongly correlated to the echocardiographic function in the corresponding ventricular chamber, with better echocardiographic function correlating to a more robust regenerative cellular content., Conclusions: We conclude that autologous cardiomyogenic potential in pediatric heart lesions is robust during the first year of life and uniformly declines thereafter. Depletion of stem cell content occurs at an earlier age in HLHS with the onset of ventricular failure in a chamber-specific pattern that correlates directly to ventricular dysfunction. These data suggest that regenerative therapies using autologous cellular sources should be implemented in the neonatal period before the potentially rapid onset of single ventricle failure in HLHS or the evolution of biventricular failure in DCM., Competing Interests: The authors have declared that no competing interests exist.

Objectives: Patients with borderline ventricles and ventricular septal defects (VSDs) who have previously undergone single ventricle palliation might be candidates for staged ventricular recruitment with the ultimate goal of biventricular conversion. This study aimed to determine the effect of atrial septal defect (ASD) restriction without VSD closure on ventricular growth in patients with borderline right or left ventricles and VSDs., Methods: Patients with borderline ventricles and VSD who underwent a staged ventricular recruitment procedure with strategies to increase blood flow through hypoplastic ventricle via ASD restriction without VSD closure after single ventricle palliation were retrospectively reviewed. Pre- and postrecruitment ventricular volumes were compared using Wilcoxon signed rank test., Results: A total of 21 patients underwent staged ventricular recruitment via ASD restriction without VSD closure at median age of 20.0 months (interquartile range [IQR], 8.0-52.5 months). At a median of 9.0 months (IQR, 8.0-11.8 months) after the recruitment procedure, there were increases in the median indexed ventricular diastolic volume (31.7 mL/m 2 [IQR, 24.5-37.1] to 48.5 mL/m 2 [IQR, 38.4-58.0; P < .01]), median indexed systolic volume (13.3 mL/m 2 [IQR, 9.7-18.7] to 19.5 mL/m 2 [IQR, 16.8-29.7]; P < .01), and the median indexed stroke volume (18.4 mL/m 2 [IQR, 14.8-21.1] to 28.1 mL/m 2 [IQR, 21.3-31.8]; P < .01). Biventricular conversion was ultimately performed in 14 (67%). Two patients died after biventricular conversion., Conclusions: Staged ventricular recruitment via ASD restriction without VSD closure is associated with growth of the hypoplastic ventricle. In patients who are deemed high-risk for single ventricle, this approach might facilitate eventual biventricular conversion. Further studies are needed to identify optimal candidates for this approach., (Copyright © 2018 The American Association for Thoracic Surgery. Published by Elsevier Inc. All rights reserved.)

Aortopulmonary window (APW) is rare a congenital heart disease accounting for 0.1%-0.2% of all congenital heart defects. The 35% of the APW has been associated with wide variety of other structural heart diseases such as ventricular septal defect, persistent ductus arteriosus, arch anomalies and coronary artery anomalies. To the best of our knowledge, only six cases of APW with pulmonary atresia with ventricular septal defect has been described in the literature. It resembles the type 1 truncus arteriosus, and differentiation from this condition is important prior to surgical correction. We present a case of 14-year-old girl child; she was diagnosed with APW with pulmonary atresia with ventricular septal defect and D transposition of great arteries with the help of echocardiography, cardiac catheterisation and cardiac CT., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.)

We previously demonstrated an abnormally high right ventricular systolic pressure response to exercise in 50% of adolescents operated on for isolated ventricular septal defect. The present study investigated the prevalence of abnormal right ventricular systolic pressure response in 20 adult (age 30-45 years) patients who underwent surgery for early ventricular septal defect closure and its association with impaired ventricular function, pulmonary function, or exercise capacity. The patients underwent cardiopulmonary tests, including exercise stress echocardiography. Five of 19 patients (26%) presented an abnormal right ventricular systolic pressure response to exercise ⩾ 52 mmHg. Right ventricular systolic function was mixed, with normal tricuspid annular plane systolic excursion and fractional area change, but abnormal tricuspid annular systolic motion velocity (median 6.7 cm/second) and isovolumetric acceleration (median 0.8 m/second2). Left ventricular systolic and diastolic function was normal at rest as measured by the peak systolic velocity of the lateral wall and isovolumic acceleration, early diastolic velocity, and ratio of early diastolic flow to tissue velocity, except for ejection fraction (median 53%). The myocardial performance index was abnormal for both the left and right ventricle. Peak oxygen uptake was normal (mean z score -0.4, 95% CI -2.8-0.3). There was no association between an abnormal right ventricular systolic pressure response during exercise and right or left ventricular function, pulmonary function, or exercise capacity. Abnormal right ventricular pressure response is not more frequent in adult patients compared with adolescents. This does not support the theory of progressive pulmonary vascular disease following closure of left-to-right shunts.

Background: Ebstein anomaly is a complex, congenital heart defect that is associated with a variety of cardiac abnormalities. Studies found a similar sarcomere gene mutation in patients with Ebstein anomaly (EA) and patients with isolated left ventricular non-compaction (LVNC)., Aim: We aimed to show the prevalence of LVNC and its potential relationship with severe cardiac events (VT - ventricular tachycardia, cardiac arrest) in adult patients with EA., Methods: We conducted a retrospective search of our institutional database from 2010 to 2014 for patients with EA and reviewed patients' medical records (age, sex, clinical presentation, electrocardiographic, echocardiographic, and CMR - cardiac magnetic resonance features). We reviewed echocardiograms and CMR scans for concomitant morphological abnormalities (LVNC, PDA - patent ductus arteriosus, VSD - ventricular septal defect, ASD - atrial septal defect, mitral valve prolapse, BAV - bicuspid aortic valve, CoA - coarctation of aorta)., Results: The studied group consisted of 84 consecutive patients (mean age 38±15 years, 50 women) with EA. We found four patients (4.8%) with LVNC, two of them had cardiac arrest, one had VT, and one was symptomless, but had QTc prolongation in Holter recordings. Concomitant abnormalities were VSD (4.8%), PDA (1.2%), CoA (1.2%), mitral valve prolapse (1.2%), and BAV (2.4%). The most common anomaly was ASD type II - 23 patients (27.3%) and WPW - Wolff-Parkinson-White's syndrome - 9 patients (10.7%)., Conclusions: Non-compaction is a notable abnormality in adult patients with EA and it may affect their prognosis. Although other concomitant lesions were more common, only patients with LVNC suffered from cardiac arrest or ventricular arrhythmia., (Copyright © 2017 Japanese College of Cardiology. Published by Elsevier Ltd. All rights reserved.)

BackgroundIn children with congenital heart disease (CHD), altered pulmonary circulation compromises gas exchange. Moreover, pulmonary dysfunction is a complication of cardiac surgery with cardiopulmonary bypass (CPB). No data are available on the effect of different CHDs on lung injury. The aim of this study was to analyze epithelial lining fluid (ELF) surfactant composition in children with CHD.MethodsTracheal aspirates (TAs) from 72 CHD children (age 2.9 (0.4-5.7) months) were obtained before and after CPB. We measured ELF phospholipids, surfactant proteins A and B (SP-A, SP-B), albumin, and myeloperoxidase activity. TAs from 12 infants (age 1.0 (0.9-2.9) months) with normal heart/lung served as controls.ResultsHeart defects were transposition of great arteries (19), tetralogy of Fallot (TOF, 20), atrial/ventricular septal defect (ASD/VSD, 22), and hypoplastic left heart syndrome (11). Increased levels of ELF SP-B were found in all defects, increased myeloperoxidase activity in all except the TOF, and increased levels of ELF albumin and SP-A only in ASD/VSD patients. Postoperatively, ELF findings remained unchanged except for a further increase in myeloperoxidase activity.ConclusionELF composition has distinctive patterns in different CHD. We speculate that a better knowledge of the ELF biochemical changes may help to prevent respiratory complications.

Background: Modified ultrafiltration (MUF) can be performed in infants with ventricular septal defects (VSDs) after cardiopulmonary bypass (CPB) to reduce haemodilution and its potential adverse effects. High-flow MUF might reduce ultrafiltration duration and hasten the necessary correction of haemodilution during CPB. However, its influence on brain oxygenation remains controversial., Objective: This non-randomized, prospective, pilot study aimed to investigate the influence of high-flow MUF on brain oxygenation in infants with VSDs., Methods: High-flow MUF (≥20 mL/kg/min) was performed in twenty infants. Brain oxygen saturation (rSO 2 ) and tissue haemoglobin index (tHI) were non-invasively and continuously measured intraoperatively using near-infrared spectroscopy (NIRS). Transcranial Doppler non-invasively detected the mean flow velocity of the middle cerebral artery (Vmean)., Results: rSO 2 increased significantly during MUF, as did tHI, Vmean, mean arterial pressure and haematocrit (all p<0.05). No correlation was found between changes in rSO 2 and changes in other parameters (all p≥0.05)., Conclusion: In infants with ventricular septal defects managed with CPB during VSDs repair, high-flow MUF did not reduce brain oxygenation.

Background: Right ventricular outflow tract (RVOT) stents have been used as palliation in patients with severe tetralogy of Fallot (TOF). Radiofrequency perforation of the RVOT has also been described in patients with pulmonary atresia (PA)/ventricular septal defect (VSD). However, RVOT stenting in conjunction with radiofrequency perforation as a means for establishing reliable pulmonary blood flow in patients with PA/VSD has not previously been reported., Objectives: Our aim is to report our experience with using perforation of plate-like pulmonary valve atresia combined with stenting of RVOT as an alternative and equally efficacious intervention for infants with PA/VSD, as compared to a surgical pulmonary artery shunt (SPS)., Methods: A retrospective review of patients with PA/VSD at our institution from Jan 2006 to October 2015 was performed., Results: Twenty-seven patients received palliation for PA/VSD. Five (median 2.5 kg, 2.1-4.1 kg) underwent RVOT stenting and 22 (3.5 kg, 2.1-4.6 kg) underwent surgical SPS. Of the patients who received an RVOT stent, 3 underwent guidewire perforation and balloon dilation of the plate-like pulmonary valve, and 2 underwent radiofrequency perforation of the pulmonary plate, followed by balloon dilation. Postprocedure saturations averaged 93% in the stent group and 89% in the shunt group. One of the patients who underwent RVOT stenting required additional stenting of the PDA for isolation of the LPA, but none required re-intervention. Four patients in the SPS cohort required re-intervention (18%). Two required stenting of the shunt, and 2 required surgical revision of the shunt. There was one death in the stent group, however this was secondary to withdrawal of support given an underlying genetic diagnosis (trisomy 13). There was one fatality in the SPS cohort prior to hospital discharge., Conclusions: Perforation followed by RVOT stenting may be a safe and effective alternative to surgical SPS in infants with PA/VSD., (© 2017 Wiley Periodicals, Inc.)

Objectives: To clarify the risk factors for abnormal degeneration of autologous pericardium, the mechanical stress on the endothelial tissue caused by turbulent blood flow in the pulmonary artery (PA) reconstructed with autologous pericardium and major aortopulmonary collateral arteries was assumed in pulmonary atresia and ventricular septal defect., Methods: Patient-specific PA models were created for 6 patients based on their past computed tomography images taken after unifocalization of major aortopulmonary collateral arteries. Computational fluid dynamics models were created to simulate the physiological pulsatile flow including the peripheral reflection wave, characteristic impedance and autonomous regulation system. Flow streamline, wall shear stress (WSS) and the oscillatory shear index (OSI) were calculated from the simulated result. PA degeneration was evaluated with the computed tomography images before the intracardiac repair., Results: Regions with physiological high WSS had fewer abnormal changes. Excessively high WSS was often detected at the anastomosis site of the reconstructed PA, and intimal thickening was found in these regions during intracardiac repair. Regions with high OSI and low WSS had dilated change within several months. In 1 patient, in particular, detached vortex flow occurred at the rectangular angle anastomosis site of the right PA in flow streamline, resulting in high OSI and low WSS with abnormal enlargement in the pericardium., Conclusions: Endothelial stress caused by blood flow would affect the degeneration of autologous pericardium and major aortopulmonary collateral arteries in the reconstructed PA. High OSI and low WSS might induce enlargement or dilatation, and excessively high WSS in the anastomosis site might induce intimal thickening., (© The Author 2017. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.)

Spontaneous closure of an atrial septal defect (ASD) is well described in pediatric cardiology but may be less familiar to adult internists and cardiologists. We report a moderately sized 6-mm ASD that closed spontaneously without intervention. A literature review found that a smaller defect size and an early age of diagnosis are the most important predictors of closure. Possible mechanisms of a spontaneous ASD closure include adaptive endothelial migration, limited myocardial proliferation, and fibroblast migration with extracellular matrix deposition., Competing Interests: Conflict of Interest Disclosure: The authors have completed and submitted the Methodist DeBakey Cardiovascular Journal Conflict of Interest Statement and none were reported.

Hypoplastic left heart syndrome (HLHS) encapsulates a spectrum of complex congenital cardiovascular malformations involving varying degrees of underdevelopment of the left-sided heart structures. However, despite improved survival rates since the introduction of staged surgical reconstruction, treatment options for HLHS remain palliative rather than curative. A major limiting factor in the development of definitive curative therapy for HLHS is an incomplete understanding of its pathogenesis. Currently, the aetiology HLHS is best conceptualised by the 'flow theory' of cardiogenesis, which states that normal cardiac development is reliant on the interrelationship of normal flow patterns of blood through the developing heart, and appropriate growth of the cardiac valves and myocardium. Thus, congenital cardiac malformations, such as HLHS, are thought to arise when these two processes are incorrectly coupled in utero. The rationale for the hypothesis proposed herein rests upon the flow theory of cardiogenesis. Morphological studies of HLHS indicate that, although underdeveloped, all left-sided cardiac structures are present and anatomically correct. Further, of the various structural abnormalities that can occur within the spectrum of HLHS, the presence of a ventricular septal defect (VSD) is rare. The rarity of a VSD within the morphological spectrum of HLHS suggests the syndrome may not develop in the presence of a functionally significant VSD. Presumably, the presence of a functional VSD establishes a communication between the two ventricles during cardiac development, and preserves the normal pressure-flow-dependent growth of the left ventricular (LV) myocardium, despite inflow/outflow valve defects. It is proposed that surgical creation of a VSD in utero will 'rescue' the LV of hearts with left-sided valvular deformities that render them susceptible to the development of HLHS later in gestation. In evaluating this hypothesis, potential techniques for surgical creation of a VSD in utero are offered. These techniques are based on already established catheter-based in utero interventions, and conventional postnatal percutaneous procedures for VSD creation. Further discussion is also offered on techniques to avoid, and manage, potential complications (i.e. conduction system damage) of the proposed technique(s). Finally, if VSD creation in utero is indeed practically feasible, and successfully establishes the hypothesised hemodynamic and myocardial growth normalisation within the abnormally developing LV, the clinical implications are profound. This procedure may hold a potential cure for almost every sub-type of HLHS., (Crown Copyright © 2017. Published by Elsevier Ltd. All rights reserved.)

We describe an unusual case of partial atrioventricular septal defect with malalignment of the septum primum to the left atrium with respect to the ventricular septum, committing the tricuspid valve to both ventricles (double-outlet right atrium). Abnormal attachment of the septum primum to the lateral aspect of mitral annulus resulted in left atrial outflow obstruction. The patient underwent successful surgical correction.

Background: Emerging data suggest impaired biventricular function in adults late after repair of ventricular septal defect (VSD). We assessed and compared right (RV) and left ventricular (LV) mechanics in adolescents and adults after surgical closure of doubly committed subarterial and perimembranous VSDs., Methods: A total of 75 subjects were studied: 29 patients after subarterial VSD repair (group I), 17 patients after perimembranous VSD repair (group II) and 29 age-matched controls (group III). RV and LV mechanics were assessed using tissue Doppler and speckle-tracking echocardiography, while RV outflow systolic function was quantified by systolic excursion and fractional shortening (FS)., Results: Compared with group III, groups I and II had significantly reduced tricuspid annular systolic and diastolic velocities, isovolumic myocardial acceleration, RV global longitudinal systolic and diastolic deformation parameters and RV outflow systolic excursion (all P < .05). Group I, but not II, had reduced RV outflow FS (P = .008) and the lowest global LV longitudinal systolic strain (P = .008) and systolic strain rate (P = .014). In group I, postoperative aortic regurgitation was associated with lower LV longitudinal systolic strain (P = .009) and early diastolic strain rate (P = .002), while right bundle branch block was associated with lower RV systolic strain rate (P = .048). As a group, RV outflow excursion (P < .001) and FS (P = .001) were correlated with LV global systolic strain., Conclusion: Adolescents and adults late after repair of subarterial and perimembranous VSDs show impairment of RV systolic and diastolic myocardial deformation. The RV outflow function and LV systolic deformation appear to be worse after repair of subarterial defects., (© 2017 Stichting European Society for Clinical Investigation Journal Foundation.)

Purpose: To determine the value of dual-source computed tomography (DSCT) in depicting the morphological characteristics and diagnosing the associated malformations for patients with transposition of the great arteries (TGA) before surgery., Materials and Methods: Twenty-five patients with TGA who underwent DSCT and transthoracic echocardiography (TTE) examination were retrospectively reviewed. The morphological types of TGA, the spatial relationship between the pulmonary artery and the aorta, as well as coronary artery-associated abnormalities were assessed by DSCT. In contrast to TTE, the diagnostic accuracy of associated malformations on DSCT were analyzed and calculated with reference to surgical or digital subtraction angiography (DSA) findings. Effective doses (EDs) were also calculated., Results: Among the 25 patients, 12 (48%) had ventricular septal defects and left ventricular outflow tract stenosis. Sixteen patients (16/25, 64%) had great arteries with an oblique spatial relationship on DSCT. In addition, we found seven patients (7/25, 28%) with coronary artery malformation, including five with an abnormal coronary origin and two with signs of a myocardial bridge. According to DSA or surgical findings, DSCT was superior to TTE in demonstrating extracardiac anomalies (sensitivity, anomalies of great vessels: 100% vs. 93.33%, other anomalies: 100% vs. 46.15%). The mean estimated ED for those aged <10 years was <2 mSv (1.59 ± 0.95 mSv)., Conclusions: DSCT can achieve an overall assessment of patients with TGA, including any associated malformations as well as the identification of the spatial relationship of the great arteries. DSCT can therefore be considered as an alternative imaging modality for surgical decision making.

The prevalence of congenital heart defects (CHD) in Kabuki syndrome ranges from 28% to 80%. Between January 2012 and December 2015, 28 patients had a molecularly proven diagnosis of Kabuki syndrome. Pathogenic variants in KMT2D (MLL2) were detected in 27 patients, and in KDM6A gene in one. CHD was diagnosed in 19/27 (70%) patients with KMT2D (MLL2) variant, while the single patient with KDM6A change had a normal heart. The anatomic types among patients with CHD included aortic coarctation (4/19 = 21%) alone or associated with an additional CHD, bicuspid aortic valve (4/19 = 21%) alone or associated with an additional CHD, perimembranous subaortic ventricular septal defect (3/19 = 16%), atrial septal defect ostium secundum type (3/19 = 16%), conotruncal heart defects (3/19 = 16%). Additional CHDs diagnosed in single patients included aortic dilatation with mitral anomaly and hypoplastic left heart syndrome. We also reviewed CHDs in patients with a molecular diagnosis of Kabuki syndrome reported in the literature. In conclusion, a CHD is detected in 70% of patients with KMT2D (MLL2) pathogenic variants, most commonly left-sided obstructive lesions, including multiple left-sided obstructions similar to those observed in the spectrum of the Shone complex, and septal defects. Clinical management of Kabuki syndrome should include echocardiogram at the time of diagnosis, with particular attention to left-sided obstructive lesions and mitral anomalies, and annual monitoring for aortic arch dilatation., (© 2017 Wiley Periodicals, Inc.)