Aplasia of the right aortic cusp in a neonate : a life-threatening but curable anomaly

A case of absent right aortic cusp causing serious aortic incompetence in a neonate is reported. A "bicuspidalization" repair broke down within 24 hours, but reoperation with annular enlargement and insertion of a 19-mm prosthetic valve resulted in complete recovery. This rare but life-threatening anomaly of the aortic valve can be recognized with Doppler echocardiography. Valve replacement in conjunction with aortic annular enlargement should be performed as primary repair

Organisation of paediatric echocardiography laboratories and governance of echocardiography services and training in Europe: current status, disparities, and potential solutions. A survey from the Association for European Paediatric and Congenital Cardiology (AEPC) imaging working group

Abstract Background: There is limited data on the organisation of paediatric echocardiography laboratories in Europe. Methods: A structured and approved questionnaire was circulated across all 95 Association for European Paediatric and Congenital Cardiology affiliated centres. The aims were to evaluate: (1) facilities in paediatric echocardiography laboratories across Europe, (2) accredited laboratories, (3) medical/paramedical staff employed, (4) time for echocardiographic studies and reporting, and (5) training, teaching, quality improvement, and research programs. Results: Respondents from forty-three centres (45%) in 22 countries completed the survey. Thirty-six centres (84%) have a dedicated paediatric echocardiography laboratory, only five (12%) of which reported they were European Association of Cardiovascular Imaging accredited. The median number of echocardiography rooms was three (range 1–12), and echocardiography machines was four (range 1–12). Only half of all the centres have dedicated imaging physiologists and/or nursing staff, while the majority (79%) have specialist imaging cardiologist(s). The median (range) duration of time for a new examination was 45 (20–60) minutes, and for repeat examination was 20 (5–30) minutes. More than half of respondents (58%) have dedicated time for reporting. An organised training program was present in most centres (78%), 44% undertake quality assurance, and 79% perform research. Guidelines for performing echocardiography were available in 32 centres (74%). Conclusion: Facilities, staffing levels, study times, standards in teaching/training, and quality assurance vary widely across paediatric echocardiography laboratories in Europe. Greater support and investment to facilitate improvements in staffing levels, equipment, and governance would potentially improve European paediatric echocardiography laboratories

Gender differences and determinants of aerobic fitness in children aged 8-11 years.

Previous studies of gender differences in maximum oxygen uptake have come to different conclusions. Limited data exists where the determinants of maximum oxygen uptake have been evaluated in a comprehensive manner. Thus, we examined 248 children (140 boys and 108 girls), aged 7.9-11.1 years. Body composition was determined by dual-energy X-ray absorptiometry, measured variables were total body fat (TBF) and lean body mass (LBM). Maximal oxygen uptake (VO2peak) was measured by indirect calorimetry during a maximal cycle exercise test. Daily physical activity was assessed by accelerometers and duration of vigorous activity per day (VPA) was calculated. Left ventricular inner diastolic diameter (LVDD) was measured by echocardiography. Lung function was evaluated with spirometric testing and whole body plethysmography. Boys had between 8 and 18% higher values than girls for VO2peak, dependent upon whether VO2peak was expressed in absolute values or scaled to body mass, LBM or if allometric scaling was used. In multiple regression analysis absolute values of aerobic fitness were independently related to LBM, maximal heart rate (Max HR), gender, LVDD, and VPA. Furthermore, when VO2peak was scaled to body mass it was independently related to In TBF, Max HR, gender, VPA, and LVDD. Lung function had no relation to VO2peak. Our study concludes that body composition is the main predictor for VO2peak, in children aged 8-11 years, whereas VPA or LVDD has only a modest impact. Existing gender differences in VO2peak cannot be explained only by differences in body composition, physical activity, or heart size

Alpha-cardiac actin mutations produce atrial septal defects.

Atrial septal defect (ASD) is one of the most frequent congenital heart defects (CHDs) with a variable phenotypic effect depending on the size of the septal shunt. We identified two pedigrees comprising 20 members segregating isolated autosomal dominant secundum ASD. By genetic mapping, we identified the gene-encoding alpha-cardiac actin (ACTC1), which is essential for cardiac contraction, as the likely candidate. A mutation screen of the coding regions of ACTC1 revealed a founder mutation predicting an M123V substitution in affected individuals of both pedigrees. Functional analysis of ACTC1 with an M123V substitution shows a reduced affinity for myosin, but with retained actomyosin motor properties. We also screened 408 sporadic patients with CHDs and identified a case with ASD and a 17-bp deletion in ACTC1 predicting a non-functional protein. Morpholino (MO) knockdown of ACTC1 in chick embryos produces delayed looping and reduced atrial septa, supporting a developmental role for this protein. The combined results indicate, for the first time, that ACTC1 mutations or reduced ACTC1 levels may lead to ASD without signs of cardiomyopathy

Transverse plane pelvic rotation in adolescent idiopathic scoliosis: primary or compensatory?

Several studies have suggested that the pelvis is involved in the etiology or pathogenesis of adolescent idiopathic scoliosis (AIS). The purpose of this retrospective, cross-sectional radiographic study is to identify any correlation between the transverse plane rotational position of the pelvis in stance and operative-size idiopathic or congenital scoliosis deformities, using Scheuermann’s kyphosis and isthmic spondylolisthesis patients for comparison. The hypothesis tested was that the direction of transverse pelvic rotation is the same as that for a thoracic scoliosis. As a group, AIS patients had a significant transverse plane pelvic rotation in the same direction as the thoracic curve. When subdivided into the six Lenke curve patterns, this was true for the groups with a major thoracic curve: thoracic (1), double thoracic (2) and double curve patterns (3). It was not true for patterns with a major thoracolumbar/lumbar curve: single thoracolumbar/lumbar (5) and double thoracic-thoracolumbar/lumbar (6). Nor was it true for triple (4) curves. The Lenke 1 and 2 major thoracic curves without compensatory thoracolumbar/lumbar curves did not have the predicted pelvic rotation. All congenital scoliosis patients studied had main thoracic curves and significant transverse plane pelvic rotation in the same direction as the thoracic curve. There was no transverse plane pelvic rotation in the Scheuermann’s kyphosis or isthmic spondylolisthesis patients. We interpret these findings as consistent with a compensatory rotation of the pelvis in the same direction as the main thoracic curve in most patients with a compensatory thoracolumbar/lumbar curve as well as in patients with main thoracic congenital scoliosis