Double-outlet right ventricle: Morphologic demonstration using nuclear magnetic resonance imaging

Sixteen patients with double-outlet right ventricle, aged 1 week to 29 years (median 5 months), were studied with a 1.5 tesla nuclear magnetic resonance (NMR) imaging scanner. Two-dimensional echocardiography was performed in all patients. Thirteen patients underwent angiography, including nine who underwent subsequent surgical correction. Three patients underwent postmortem examination.Small children and infants were scanned inside a 32 cm diameter proton head coil. Multiple 5 mm thick sections separated by 0.5 mm and gated to the patient's electrocardiogram were acquired with a spin-echo sequence and an echo time of 30 ms. A combination of standard and oblique imaging planes was used. Imaging times were <90 min. The NMR images were technically unsuitable in one patient because of excessive motion artifact.In the remaining patients, the diagnosis of double outlet right ventricle was confirmed and correlated with surgical and postmortern findings. The NMR images were particularly valuable in demonstrating the interrelations between the great arteries and the anatomy of the outlet septum and the spatial relations between the ventricular septal defect and the great arteries. Although the atrioventricular (AV) valves were not consistently demonstrated, NMR imaging in two patients identified abnormalities of the mitral valve that were not seen with two-dimensional echocardiography. In one patient who had a superoinferior arrangement of the ventricles, NMR imaging was the most useful imaging technique for demonstrating the anatomy.In patients with double-outlet right ventricle, NMR imaging can provide clinically relevant and accurate morphologic information that may contribute to future improvement in patient management

Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability

Background: A pattern of major and minor congenital anomalies, facial dysmorphic features, and neurodevelopmental difficulties, including cognitive and social impairments has been reported in some children exposed to sodium valproate (VPA) during pregnancy. Recognition of the increased risks of in utero exposure to VPA for congenital malformations, and for the neurodevelopmental effects in particular, has taken many years but these are now acknowledged following the publication of the outcomes of several prospective studies and registries. As with other teratogens, exposure to VPA can have variable effects, ranging from a characteristic pattern of major malformations and significant intellectual disability to the other end of the continuum, characterised by facial dysmorphism which is often difficult to discern and a more moderate effect on neurodevelopment and general health. It has become clear that some individuals with FVSD have complex needs requiring multidisciplinary care but information regarding management is currently lacking in the medical literature. Methods: An expert group was convened by ERN-ITHACA, the European Reference Network for Congenital Malformations and Intellectual Disability comprised of professionals involved in the care of individuals with FVSD and with patient representation. Review of published and unpublished literature concerning management of FVSD was undertaken and the level of evidence from these sources graded. Management recommendations were made based on strength of evidence and consensus expert opinion, in the setting of an expert consensus meeting. These were then refined using an iterative process and wider consultation. Results: Whilst there was strong evidence regarding the increase in risk for major congenital malformations and neurodevelopmental difficulties there was a lack of high level evidence in other areas and in particular in terms of optimal clinical management.. The expert consensus approach facilitated the formulation of management recommendations, based on literature evidence and best practice. The outcome of the review and group discussions leads us to propose the term Fetal Valproate Spectrum Disorder (FVSD) as we feel this better encompasses the broad range of effects seen following VPA exposure in utero. Conclusion: The expert consensus approach can be used to define the best available clinical guidance for the diagnosis and management of rare disorders such as FVSD. FVSD can have medical, developmental and neuropsychological impacts with life-long consequences and affected individuals benefit from the input of a number of different health professionals.Peer reviewe

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.

Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to embryonal tumours. Delineation of the molecular defects within the imprinted 11p15.5 region can predict familial recurrence risks and the risk (and type) of embryonal tumour. Despite recent advances in knowledge, there is marked heterogeneity in clinical diagnostic criteria and care. As detailed in this Consensus Statement, an international consensus group agreed upon 72 recommendations for the clinical and molecular diagnosis and management of BWS, including comprehensive protocols for the molecular investigation, care and treatment of patients from the prenatal period to adulthood. The consensus recommendations apply to patients with Beckwith-Wiedemann spectrum (BWSp), covering classical BWS without a molecular diagnosis and BWS-related phenotypes with an 11p15.5 molecular anomaly. Although the consensus group recommends a tumour surveillance programme targeted by molecular subgroups, surveillance might differ according to the local health-care system (for example, in the United States), and the results of targeted and universal surveillance should be evaluated prospectively. International collaboration, including a prospective audit of the results of implementing these consensus recommendations, is required to expand the evidence base for the design of optimum care pathways

FloWatch versus conventional pulmonary artery banding

ObjectiveWe sought to compare the efficacy of conventional pulmonary artery banding with that of FloWatch pulmonary artery banding.MethodsForty consecutive infants underwent conventional pulmonary artery banding (n = 20; mean age, 1.8 ± 1.5 months; mean weight, 3.7 ± 0.7 kg) or FloWatch pulmonary artery banding (n = 20; mean age, 2.6 ± 1.3 months; mean weight, 4.1 ± 0.8 kg). Indications were preparation for biventricular repair in 16 of 20 infants, univentricular repair in 2 of 20 infants, and left ventricular retraining in 2 of 20 infants in the conventional pulmonary artery banding group versus 13 of 20, 5 of 20, and 2 of 20 infants, respectively, in the FloWatch pulmonary artery banding group. Twelve of 20 infants required preoperative mechanical ventilation in the conventional pulmonary artery banding group (mean duration, 3.3 ± 4.3 days) versus preoperative mechanical ventilation required by 14 of 20 in the FloWatch pulmonary artery banding group (mean duration, 17.5 ± 19.0 days; P < .005).ResultsThere were 3 early and 2 late deaths after conventional pulmonary artery banding (mean follow-up, 10.8 ± 9.6 months; range, 1–33 months) versus no early and 2 late deaths after FloWatch pulmonary artery banding (mean follow-up, 13.4 ± 10.4 months; range, 1–38 months). Postoperative mechanical ventilation and intensive care unit and hospital stays were significantly longer after conventional pulmonary artery banding than those after FloWatch pulmonary artery banding, respectively (10.4 ± 11.2 vs 3.0 ± 3.1 days [P < .01], 20.3 ± 19.9 vs 5.3 ± 4.6 days [P < .005], and 45.6 ± 41.6 vs 15.4 ± 6.4 days [P < .005]). Reoperation to adjust the band was required in 7 (35%) of 20 infants after conventional pulmonary artery banding, whereas no reoperations were required after FloWatch pulmonary artery banding (P < .005). Average cost of stay in the intensive care unit and hospital was, respectively, $45,000 and$45,300 cheaper with FloWatch pulmonary artery banding than average cost with conventional pulmonary artery banding, largely surpassing the cost of the device ($10,000).ConclusionsFloWatch pulmonary artery banding appears superior to conventional pulmonary artery banding because (1) reoperations are not required; (2) postoperative management is simplified and postoperative mechanical ventilation, stay in the intensive care unit, and stay in the hospital are significantly reduced; and (3) the reduction in costs of postoperative mechanical ventilation, stay in the intensive care unit, and stay in the hospital significantly outweigh the cost of the device