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Congenital cardiac patients who received neonatal reconstructive aortic arch surgery are at risk of aortopulmonary space narrowing with compression of the left pulmonary artery and left main bronchus (LMB) later in life. We discuss a challenging adolescent single ventricle patient who presented for surgical treatment of a non-idiopathic thoracic scoliosis (posterior spinal fusion) with severe stenosis of the LMB and left pulmonary artery due to a narrow aortopulmonary space. Careful preoperative imaging, evaluation, and decision making resulted in successful surgical treatment and uneventful perioperative course.

Background: Due to the improved survival rates of children and adolescents with congenital heart disease (CHD), more attention is now being directed towards their health-related quality of life (HRQoL), emotional and behavioral problems. Ebstein anomaly (EA) is a rare CHD with a broad clinical spectrum. The aim of the current study is to evaluate self- and proxy-reported HRQoL and emotional and behavioral problems in children and adolescents with EA. Methods: In this cross-sectional, multicenter study, we included EA patients (aged 8-17 years), who underwent routine clinical assessments in Dutch university hospitals between May 2017 and March 2019. The Generic Pediatric Quality of Life Inventory 4.0 (for ages 8-12/13-17 years) was used to assess HRQoL. The Child Behavior Checklist, Youth Self-Report and Teacher's Report Form were completed to measure emotional and behavioral problems. Results: Questionnaires for thirty-eight patients (median age: 13 years; 48% male) were completed by patients themselves, parents and teachers. Compared to normative data, self-reported HRQoL was not significantly impaired, except for social functioning in children aged 8-12 years. Gender, severity of tricuspid regurgitation or previous surgery did not predict HRQoL. Parents reported significantly more internalizing (anxiety/depression), attention and thought problems in children with EA. These problems, however, were not reported by adolescents themselves. School teachers reported significantly fewer externalizing problems compared to the norm. Conclusions: Overall, despite satisfactory HRQoL, children and adolescents show emotional and behavioral problems. We recommend routine HRQoL and psychological assessment to screen for less apparent internalizing and psychosocial problems.

Supplemental Digital Content is available in the text., Background: Pediatric cardiomyopathies are a clinically and genetically heterogeneous group of heart muscle disorders associated with high morbidity and mortality. Although knowledge of the genetic basis of pediatric cardiomyopathy has improved considerably, the underlying cause remains elusive in a substantial proportion of cases. Methods: Exome sequencing was used to screen for the causative genetic defect in a pair of siblings with rapidly progressive dilated cardiomyopathy and death in early infancy. Protein expression was assessed in patient samples, followed by an in vitro tail-anchored protein insertion assay and functional analyses in zebrafish. Results: We identified compound heterozygous variants in the highly conserved ASNA1 gene (arsA arsenite transporter, ATP-binding, homolog), which encodes an ATPase required for post-translational membrane insertion of tail-anchored proteins. The c.913C>T variant on the paternal allele is predicted to result in a premature stop codon p.(Gln305*), and likely explains the decreased protein expression observed in myocardial tissue and skin fibroblasts. The c.488T>C variant on the maternal allele results in a valine to alanine substitution at residue 163 (p.Val163Ala). Functional studies showed that this variant leads to protein misfolding as well as less effective tail-anchored protein insertion. Loss of asna1 in zebrafish resulted in reduced cardiac contractility and early lethality. In contrast to wild-type mRNA, injection of either mutant mRNA failed to rescue this phenotype. Conclusions: Biallelic variants in ASNA1 cause severe pediatric cardiomyopathy and early death. Our findings point toward a critical role of the tail-anchored membrane protein insertion pathway in vertebrate cardiac function and disease.

BackgroundForecasting the prognosis of a child when diagnosed with Ebstein’s anomaly is difficult. We, therefore, studied which factors at the time of diagnosis are associated with death during childhood.MethodsAll consecutive patients (0–18 years) diagnosed with Ebstein’s anomaly in the Netherlands between 1980 and 2014 were included. Survival curves were obtained using the Kaplan-Meier method. By using the Cox proportional hazard model, we analysed the factors (at diagnosis) that were associated with death.ResultsWe included 176 patients. Thirty-one patients (18%) died before the age of 18 years. The 1-year survival was 84% and remained stable at 82% from 35 months after diagnosis and onwards. Modified Ross Heart Failure Class 4 at the time of diagnosis was the most important risk factor for death during childhood (HR 12.5, 95% CI 4.4 to 35.9). Furthermore, diagnosis in the neonatal period (HR 4.2, 95% CI 1.5 to 12.0), severe tricuspid valve regurgitation (HR 2.4, 95% CI 1.2 to 5.0), severe right ventricular outflow tract obstruction (HR 3.7, 95% CI 1.8 to 7.7) and a patent ductus arteriosus (HR 2.8, 95% CI 1.3 to 6.0) at the time of diagnosis were univariately associated with death. Multivariable analysis showed that presentation with Heart Failure Class 4 and a ventricular septal defect is the strongest predictor of death in childhood and adolescence.ConclusionPatients with Ebstein’s anomaly presenting with Heart Failure Class 4 and a ventricular septal defect have a high risk of death during childhood.

ObjectivesThere is evidence that in fetuses with congenital heart defects (CHDs), head growth is affected. However, scanty data are available on longitudinal growth patterns of other biometric parameters such as abdominal circumference (AC) and femur length (FL). The aim was to evaluate growth patterns in fetuses with isolated CHD diagnosed prenatally in different categories of lesions.MethodsFetuses with isolated CHD seen between 2008 and 2013 at the Fetal Medicine Unit of 2 tertiary referral centers were retrospectively included in the study. CHD was classified into 7 categories. Fetal biometry parameters were assessed at 4 variable time points between 18 and 35weeks' gestation and transformed into Z scores. Linear mixed modeling was performed to analyze repeated measurements and construction of growth models.ResultsTwo hundred forty-six live births with CHD were analyzed. Linear growth modeling showed a slight decrease in head circumference (HC) in the second half of pregnancy, whereas AC and FL growth were not significantly affected. The model predicted a significantly smaller HC at 36weeks' gestation in fetuses with conotruncal heart defects.ConclusionsFetuses with CHD showed a modest but significant linear decrease in HC growth, whereas AC and FL growth trajectories remained stable.

Contains fulltext : 175107.pdf (Publisher’s version ) (Closed access) OBJECTIVE: Surgical outcomes of pediatric patients with Ebstein's anomaly are often described as part of all-age-inclusive series. Our objective is to focus on patients treated surgically in childhood (0-18 y). We study the intended treatment (biventricular or 1.5 ventricle repair or univentricular palliation), freedom from unplanned reoperation and survival of this specific age group, in a nationwide study. DESIGN: Records of all Ebstein's anomaly patients born between 1980 and 2013 were reviewed. Demographic variables, intraoperative procedures and postoperative outcomes were analyzed. RESULTS: Sixty-three patients underwent 109 operations. Median follow-up after diagnosis was 121 months (range 0-216 months). Twenty-nine (46%) patients required surgery in the first year of life, including 21 who required neonatal surgery. The intended treatment was biventricular (n = 37, 59%) and 1.5 ventricle (n = 5, 8%) repair or univentricular (n = 21, 33%) palliation. The one-, five-, and 10-year freedom from unplanned reoperation was 89%, 79%, and 75% respectively. There were nine (14%) in hospital deaths (within 30 d after surgery). Causes of death were low cardiac output syndrome, cardiac failure, hypoxemia, pulmonary hypertension or an unknown cause. There were no late deaths. CONCLUSIONS: Surgery in childhood represents the worse spectrum of disease, biventricular repair is often not applied. Patients often face revision surgery. Mortality is limited to the immediate postsurgical period.

Contains fulltext : 172393.pdf (Publisher’s version ) (Closed access)

A second girl with the unique combination of auditory canal atresia and scapulohumeral synostosis is reported. This patient also had bilateral clubfeet and genital abnormalities. The other patient reported with this syndrome and the presently reported child both had consanguineous parents. Mental development was normal in both children. The acronym SAMS (Short stature, Auditory canal atresia, Mandibular hypoplasia, and Skeletal abnormalities) was suggested to describe the main manifestations in this syndrome.

Background The arterial switch operation (ASO) is the preferred procedure for children with dextrotransposition of the great arteries or Taussig-Bing anomaly. Short- as well as long-term outcome of ASO are excellent, but coronary artery stenoses are reported as a common long-term complication. It has been hypothesized that these might result in sudden cardiac death late after ASO. Methods A systematic search of PubMed and EMBASE was conducted to evaluate sudden cardiac death because of coronary complications late after ASO. Data on patients surviving ≥ 5 years post-ASO were collected from selected studies, corrected for duplicate data, and analyzed. Results After duplicate data correction 52 studies remained for data analysis. Among the 8798 survivors with follow-up, 27 patients died ≥ 5 years post-ASO (0.3%). Of these patients, 10 were known with relevant residual lesions. Five late deaths were sudden, possibly from a cardiac cause. None of the late sudden deaths were confirmed to be coronary-related. Conclusions Sudden cardiac death in asymptomatic patients as a result of coronary artery stenosis or occlusion is extremely rare, with 5 possible cases and no proven cases of coronary artery-related sudden cardiac death in 8798 patients with 66,450 patient follow-up years. Therefore, routine coronary imaging of asymptomatic, single-stage ASO patients is not justified.

Objective: This study describes the association between the complexity of congenital cardiac and extracardiac malformations, and the parental decision of pregnancy continuation or termination. Methods: Congenital heart defects (CHD) was diagnosed by ultrasound in 251 fetuses before the 24th week (23 + 6 weeks) of gestation during the four year period from 2007 to 2010. All fetuses from the Utrecht region were referred to our center due to a strict referral pattern. The complexity and severity of the cardiac and possible extracardiac malformations were retrospectively categorized by a pediatric cardiologist and a perinatologist who were blinded to the pregnancy outcome. The groups with and without termination of pregnancy were compared using a univariate analysis and multivariate logistic regression. Results: In 119 (47%) of the 251 fetuses, parents opted for termination of pregnancy. In 103 of these cases (87%) there was a high complex or lethal cardiac, or a major or lethal extracardiac malformation. Of the 132 continued pregnancies, 42 fetuses (32%) had a high complex or lethal cardiac, or a major or lethal extracardiac malformation. There were significantly more terminations of pregnancy in case of a high or lethal complex cardiac or extracardiac anomaly (71 vs. 15%, p Conclusion: Parents opted for termination of pregnancy significantly more often in cases with high complex cardiac and extracardiac malformations. It was rare for parents to opt for pregnancy termination in the absence of a severe cardiac or extracardiac malformation.

The neonatal Marfan syndrome (nMFS) is a rare condition with a poor prognosis. The relative infrequency of this syndrome hampers the clinical diagnosis at an early age. This report describes the progress of a 4-year-old boy with neonatal Marfan syndrome and severe cardiac involvement. Molecular genetic studies showed a de novo point mutation in exon 29 of the FBN1 gene located on chromosome 15q21.1. This mutation is in the classic region for nMFS and has not been reported before. The literature is reviewed. We stress the importance of early recognition of the phenotype in order to anticipate the development of cardiac abnormalities.