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Introduction: Congenital atrioventricular block (CAVB) is a rare disorder with a significant morbidity and mortality. Consensus regarding the prescription and efficacy of prenatal corticosteroids is lacking. This nationwide study was initiated to evaluate the effects of prenatal treatment with corticosteroids on the outcome of CAVB in The Netherlands., Methods: All fetuses identified with isolated congenital AVB-II° or AVB-III° in any of the eight academic fetal heart centers of The Netherlands between 2003 and 2013 were included and reviewed., Results: Fifty-six fetuses were included. Fourteen (25%) fetuses were treated with dexamethasone. We found no differences between the steroid-treated and untreated cases regarding in utero progression of the AVB (63% vs 67% respectively), survival to birth (86% vs 84%), pacemaker implantations (74% vs 58%) or long-term dilated cardiomyopathy (13% vs 17%). Steroid treated fetuses demonstrated more in utero growth restriction (38% vs 11%)., Conclusion: No benefit from prenatal corticosteroid treatment was demonstrated for fetuses with isolated CAVB in this study. However, we found negative side effects. Our data provide no evidence to support the routine administration of corticosteroids for the treatment of fetal CAVB., (Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.)

Objective: Congenital heart disease (CHD) is the most common congenital malformation and causes major morbidity and mortality. Prenatal detection improves the neonatal condition before surgery, resulting in less morbidity and mortality. In the Netherlands a national prenatal screening programme was introduced in 2007. This study evaluates the effects of this screening programme., Design: Geographical cohort study., Setting: Large referral region of three tertiary care centres., Population: Fetuses and infants diagnosed with severe CHD born between 1 January 2002 and 1 January 2012., Methods: Cases were divided into two groups: before and after the introduction of screening., Main Outcome Measures: Detection rates were calculated., Results: The prenatal detection rate (n = 1912) increased with 23.9% (95% confidence interval [95% CI] 19.5-28.3) from 35.8 to 59.7% after the introduction of screening and of isolated CHD with 21.4% (95% CI 16.0-26.8) from 22.8 to 44.2%. The highest detection rates were found in the hypoplastic left heart syndrome, other univentricular defects and complex defects with atrial isomerism (>93%). Since the introduction of screening, the 'late' referrals (after 24 weeks of gestation) decreased by 24.3% (95% CI 19.3-29.3)., Conclusions: This is the largest cohort study to investigate the prenatal detection rate of severe CHD in an unselected population. A nationally organised screening has resulted in a remarkably high detection rate of CHD (59.7%) compared with earlier literature., (© 2015 Royal College of Obstetricians and Gynaecologists.)

Background: Duchenne muscular dystrophy (DMD) is a progressive muscle disease. No curative therapy is currently available, but in recent decades standards of care have improved. These improvements include the use of corticosteroids and mechanical ventilation., Objective: To present a detailed population based report of the DMD disease course in The Netherlands (1980-2006) and evaluate the effect of changes in care by comparing it with an historical Dutch DMD cohort (1961-1974)., Methods: Information about DMD patients was gathered through the Dutch Dystrophinopathy Database using a standardized questionnaire and information from treating physicians., Results: The study population involved 336 DMD patients (70% of the estimated prevalence), of whom 285 were still alive. Mean age at disease milestones was: diagnosis 4.3 years, wheelchair dependence 9.7 years, scoliosis surgery 14 years, cardiomyopathy (fractional shortening <27%) 15 years, mechanical ventilation 17 years and death 19 years. Within our cohort, corticosteroid use was associated with an increased age of wheelchair dependence from 9.8 to 11.6 years (p < 0.001). When comparing the recent cohort to the historical cohort, mean survival improved from 17 to 27 years (p < 0.001)., Conclusion: The current study gives detailed information about the disease course of DMD patients, provides evidence for the positive effect of steroid treatment and mechanical ventilation and supports the use of patient registries as a valuable resource for evaluating improvements in care.

Several genes involved in the familial appearance of thoracic aortic aneurysms and dissections (FTAAD) have been characterized recently, one of which is SMAD3. Mutations of SMAD3 cause a new syndromic form of aortic aneurysms and dissections associated with skeletal abnormalities. We discovered a small interstitial deletion of chromosome 15, leading to disruption of SMAD3, in a boy with mild mental retardation, behavioral problems and revealed features of the aneurysms-osteoarthritis syndrome (AOS). Several family members carried the same deletion and showed features including aortic aneurysms and a dissection. This finding demonstrates that haploinsufficiency of SMAD3 leads to development of both thoracic aortic aneurysms and dissections, and the skeletal abnormalities that form part of the aneurysms-osteoarthritis syndrome. Interestingly, the identification of this familial deletion is an example of an unanticipated result of a genomic microarray and led to the discovery of important but unrelated serious aortic disease in the proband and family members., (© 2012 John Wiley & Sons A/S. Published by Blackwell Publishing Ltd.)

Foetal supraventricular tachycardia (SVT) with hydrops foetalis is associated with a high morbidity and mortality rate. If SVT with hydrops foetalis persists despite transplacental therapy, direct foetal treatment can be initiated. One foetus was found to have SVT with hydrops foetalis during the 29th week of pregnancy, and the condition persisted despite transplacental treatment. Amiodarone was administered directly via the umbilical vein, and the SVT resolved. A second foetus was found to have SVT with hydrops foetalis during the 28th week of pregnancy. The condition persisted despite maternal antiarrhythmic medication. Direct treatment of the foetus with amiodarone was successful. Amiodarone is the treatment of choice for direct foetal therapy for SVT, and can be administered safely via the umbilical vein. Direct foetal therapy should be considered for the treatment of foetal SVT with hydrops foetalis that occurs in the first 31 weeks of pregnancy and persists despite adequate transplacental therapy.

Objective: To describe the results of surgical treatment of hypoplastic left-heart syndrome (HLHS) and HLHS-like disorders in the Amsterdam-Leiden Centre for Congenital Heart Disease, the Netherlands., Design: Retrospective, descriptive., Method: Data were collected on 43 neonates with HLHS or similar disorders who underwent surgical treatment between December 1999 and December 2005. HLHS was present in 37 patients and 6 had disorders similar to HLHS (unbalanced atrioventricular septal defect, truncus arteriosus with hypoplastic left ventricle, double inlet left ventricle). Surgery was performed in 3 steps: Norwood operation shortly after birth (n = 43), bidirectional cavopulmonary anastomosis a few months later (n = 30) and total cavopulmonary connection at the age of 2-3 years (n = 10). During the Norwood operation, the first 21 patients received a modified Blalock shunt (between the right brachiocephalic artery and pulmonary artery), whereas the following 22 patients received a Sano shunt (between the right ventricle and pulmonary artery)., Results: Of the 43 patients, 11 died: 7 within 30 days of the first operation, 2 between the first and second operation, and 2 between the second and third operation. Actuarial survival for the entire group is 74% (32/43). The mortality rate was lower with the Sano shunt (9%; 2/22) than with the modified Blalock shunt (43%; 9/21). Catheter interventions were necessary in 10 patients: 6 had balloon dilatation of the distal aortic arch and 4 had balloon dilatation/stent placement for narrowed pulmonary arteries. With a median follow-up of 22 months (range: 1-75), 2 patients had marked neurological side effects. All 32 surviving patients were in good clinical condition.

Objective: Evaluation of the first results in the Netherlands of percutaneous and transvenous closure of an ASD II in children with an Amplatzer Septal Occluder (ASO)., Design: Prospective., Method: Data were collected from children with an ASD II prior to, during and up to 24 months after the insertion of an ASO during heart catheterisation in Leiden University Hospital, the Netherlands., Results: Between 1 January 1998 and 29 February 2000, 28 patients (12 girls, 16 boys; mean age: 74 months (range: 15-198 months)) underwent heart catheterisation to close an ASD II with an ASO. In 26 patients an ASO could be placed without significant complications. The size of the device varied from 9-34 mm (median 16 mm). In one patient ASD closure was not attempted because of multiple ASDs. In another patient the procedure was stopped after air embolism into the coronary arteries had occurred during preparation of ASO implantation. In 23/26 patients with an implanted ASO, no residual shunt was present after 24 hours. One child, in whom the defect was found to be closed after 24 hours and after three weeks, returned abroad and was lost to follow-up. After one year all defects (n = 22) were completely closed., Conclusion: Percutaneous transvenous closure of an ASD II with an ASO was possible, was not associated with any significant complications and had a high success rate, even in relatively young children with large defects.