Auscultation While Standing: A Basic and Reliable Method to Rule Out a Pathologic Heart Murmur in Children.

PURPOSE: The distinction between physiologic (innocent) and pathologic (organic) heart murmurs is not always easy in routine practice, leading too often to unnecessary cardiology referrals and expensive investigations. We aimed to test the hypothesis that the complete disappearance of murmur on standing can exclude cardiac disease in children. METHODS: From January 2014 to January 2015, we prospectively included 194 consecutive children aged 2 to 18 years who were referred for heart murmur evaluation to pediatric cardiologists at 2 French medical centers. Heart murmur characteristics while supine and then while standing were recorded, and an echo-cardiogram was performed. RESULTS: Overall, 30 (15%) of the 194 children had a pathologic heart murmur as determined by an abnormal echocardiogram. Among the 100 children (51%) who had a murmur that was present while they were supine but completely disappeared when they stood up, only 2 had a pathologic murmur, and just 1 of them needed further evaluation. Complete disappearance of the heart murmur on standing therefore excluded a pathologic murmur with a high positive predictive value of 98% and specificity of 93%, albeit with a lower sensitivity of 60%. CONCLUSIONS: Disappearance of a heart murmur on standing is a reliable clinical tool for ruling out pathologic heart murmurs in children aged 2 years and older. This basic clinical assessment would avoid many unnecessary referrals to cardiologists.

Prenatal findings in carpenter syndrome and a novel mutation in RAB23.

Carpenter syndrome is caused by mutations of the RAB23 gene. To date, 12 distinct mutations have been identified among 34 patients from 26 unrelated families. We report on the prenatal findings in a fetus with Carpenter syndrome with a novel RAB23 mutation. Cystic hygroma, bowed femora, abnormal skull shape and a complex heart defect were seen on ultrasound scan, and Carpenter syndrome was diagnosed at birth. Craniosynostosis and preaxial hexadactyly of the feet were retrospectively detectable on the fetal CT scan. Sequencing of RAB23 identified a homozygous mutation leading to skipping of exon 6 and premature termination codon (c.481G>C; p.Val161Leufs*16). This observation illustrates the difficulty of prenatal ultrasound diagnosis of Carpenter syndrome. To our knowledge, this diagnosis was suggested on ultrasound scan in only one prior patient, although in five other patients abnormal skull shape and variable findings, mainly limb anomalies including bowed femora in one case, were described during the pregnancy. Heart defect and bowed femora are rare postnatal findings. The diagnosis of Carpenter syndrome should therefore be considered on prenatal imaging in cases of bowed femora and/or cardiac defect associated with abnormal skull shape.

Reconstruction of the aortic valve leaflet with autologous pulmonary artery wall.

Leaflet reconstruction outcomes in young patients can be compromised by treated autologous pericardium utilization. We present a new and simple unicuspid/unicommissural aortic valve repair technique with an autologous pulmonary artery wall graft. With comparative and longitudinal follow-up studies, this technique could constitute a living reconstruction of the aortic valve that does not preclude a future Ross procedure.

Long-term evolution of stents implanted in branch pulmonary arteries.

BACKGROUND: Branch pulmonary artery stenosis complicates the management of congenital heart diseases. Surgical branch pulmonary artery angioplasty is associated with a high reintervention rate. As an alternative, percutaneous or intraoperative branch pulmonary artery stents have been implanted to improve efficiency, but long-term evaluations are limited. AIM: To describe the long-term evolution of branch pulmonary artery stents. METHODS: We conducted a retrospective cohort study at Tours University Hospital. All stents implanted by surgery or catheterization in branch pulmonary arteries with a minimum follow-up of 12 months and at least one catheterization control were included. The primary endpoint combined cardiovascular mortality, surgical or percutaneous reintervention for stent complication or new stent implantation. RESULTS: Between 2007 and 2017, 76 stents in 51 patients were included (62 stents implanted by surgery, 14 by catheterization). At implantation, the patients' mean age and weight were 4.7years (interquartile range 4.2years) and 17.3kg (interquartile range 11.0kg), respectively. Mean branch pulmonary artery minimum diameter was 4.1±2.1mm (mean Z-score-4.9±2.9), and mean initial stent diameter was 9.1±3.1mm. During a follow-up of 5.3years (range 0-11.2 years), freedom from primary endpoint was 86.8% (95% confidence interval 79.6-94.8%) at 1 year, 71.5% (95% confidence interval 61.9-82.7%) at 5years and 69.6% (95% confidence interval 59.6-81.2%) at 10 years. We did not identify any factors associated with major adverse cardiovascular events. Among stents without major adverse cardiovascular events, the mean branch pulmonary artery diameter Z-score at last evaluation had increased by +4.8±3.2 compared with the initial diameter (P<0.001). After stent implantation, a median of 2 re-expansions were performed for each stent (range 0-7). CONCLUSIONS: Stent implantation should offer a good long-term solution for branch pulmonary artery stenosis, although iterative re-expansions are required.

Perforation of the atretic pulmonary valve using chronic total occlusion (CTO) wire and coronary microcatheter.

BACKGROUND AND OBJECTIVE: Chronic total occlusion (CTO) guidewire have been recently reported as an alternative to radiofrequency for perforating atretic pulmonary valve. Since procedure failures or perforation of the right ventricle still occurred with CTO, we tried to enhance the stability, steering, and pushability of the wire using a microcatheter in order to improve the safety and efficacy of the procedure. METHODS: We performed pulmonary valve perforation with CTO guidewire and microcatheter in five consecutive newborns with pulmonary atresia with intact ventricular septum (PA-IVS) under fluoroscopic and echocardiographic control. RESULTS: The valve was easily perforated at the first attempt for all patients. After perforation, the microcatheter positioned in the main pulmonary artery allowed the exchange of the CTO guidewire for a more flexible wire, avoiding lesion and facilitating manipulation in the distal pulmonary branch arteries. The pulmonary valve was then dilated with balloons of increasing size as usually performed. We did not experience any procedural or early complications. Blalock-Taussig shunt was performed in 2 children because of a persistent cyanosis, 4 and 10 days after perforation. CONCLUSIONS: The combined use of a CTO guide and a microcatheter appears to be a safe and reliable technique for perforating the pulmonary valve of newborns with PA-IVS. Further procedures with this approach are needed to confirm this first experience.

Immediate and midterm results of balloon angioplasty for recurrent aortic coarctation in children aged<1 year.

BACKGROUND: Several publications have considered results of percutaneous angioplasty for aortic recoarctation, but none focused on procedures performed in children aged<1 year. AIMS: To describe the immediate and midterm results of balloon angioplasty for recoarctation before the age of 1 year, and to define the factors that might influence outcome. METHODS: We retrospectively reviewed data from 20 consecutive children undergoing percutaneous dilatation for aortic recoarctation before the age of 1 year in the University Hospitals of Tours and Nantes. RESULTS: In all patients except one, dilatation improved the median recoarctation diameter Z-score from -5.5 (range -10.6 to -2.5) to -2.8 (range -4.3 to 0.7) (P<0.001), and reduced the median peak systolic gradient from 33mmHg (range 20 to 60mmHg) to 21mmHg (range 6 to 50mmHg) (P<0.001). There was no procedure-induced mortality and no acute intimal flap or long-term aneurysm. Three patients experienced a transient femoral artery thrombosis, one of whom had a transient ischemic stroke. Eight children (40%) needed reintervention for further recoarctation (new surgery [n=4] or new dilatation [n=4]). A smaller balloon size was significantly associated with the risk of reintervention: balloon to recoarctation diameter ratio 2.0 (range 1.3 to 3.3) vs. 2.7 (range 2.1 to 4.5) (P=0.05); balloon to descending aorta ratio 0.8 (range 0.7 to 1.2) vs. 1.0 (range 0.9 to 1.3) (P<0.05). CONCLUSIONS: In this study, percutaneous balloon angioplasty for recoarctation in young infants aged<1 year improved aortic isthmus diameter with a low incidence of adverse event. However, the rate of further intervention is high, and is associated with a smaller balloon size.

Intraoperative Stenting of Pulmonary Artery Stenosis in Children With Congenital Heart Disease.

BACKGROUND: Branch pulmonary artery (BPA) stenosis is frequently associated with congenital heart disease. Management of BPA stenosis is challenging for surgeons due to a high rate of recurrence. The purpose of this study was to assess the results of intraoperative pulmonary artery stenting associated with or without surgical angioplasty. METHODS: We included 33 children from our center between January 2008 and July 2014. Patients had pulmonary atresia with ventricular septal defect (13), tetralogy of Fallot (10), troncus arteriosus (4), double outlet right ventricle (2), and single left or right ventricle (4). A total of 44 balloon-expandable stents (mean diameter, 9.5 mm; range, 4 to 16 mm) were deployed in left or right PA under direct visualization, without the use of fluoroscopy, after branch angioplasty for 28 of them (64%). The mean age at surgery was 4.3 ± 4.3 years (range, 6 days to 15 years) and the mean weight was 14.3 ± 11.9 kg (range, 2.8 to 63 kg). RESULTS: Postoperative mortality was 9% (3 patients), but only 1 death was related to the stenting procedure. Twenty-five patients underwent angiographic control after a mean follow-up of 22 months after surgery. All stents were well positioned. The mean stented BPA Z-score increased from -2.6 ± 1.8 to -0.4 ± 1.6 (p < 0.0001). Eleven patients experienced intrastent proliferation (44%). Among them, 2 patients required a reoperation for severe intrastent stenosis, whereas the 9 others had mild intrastent neointimal proliferation, which was successfully managed by balloon expansion. CONCLUSIONS: Intraoperative stenting of BPA is a safe and effective option to treat BPA stenosis and prevent recurrence.

Is Seprafilm valuable in infant cardiac redo procedures?

BACKGROUND: Morbidity and mortality are higher for cardiac reoperations than first operation due to the presence of post-operative adhesions. We retrospectively evaluated the efficacy of the bioresorbable membrane Seprafilm to prevent pericardial adhesions after cardiac surgery in a paediatric congenital heart disease population. METHODS: Seventy-one children undergoing reoperations with sternotomy redo and cardiopulmonary bypass for congenital malformations were included. Twenty-nine of these patients were reoperated after previous application of Seprafilm (treatment group). The duration of dissection, aortic cross clamping and total surgery were recorded. A tenacity score was established for each intervention from the surgeon's description in the operating report. RESULTS: In multivariate analysis, the duration of dissection and the tenacity score were lower in the treatment than control group (p < 0.01), independent of age and interval since preceding surgery. CONCLUSION: Our results suggest that Seprafilm is effective in reducing the post-operative adhesions associated with infant cardiac surgery. We recommend the use of Seprafilm in paediatric cardiac surgery when staged surgical interventions are necessary.