Noonan syndrome and pregnancy outcomes

Background: Noonan syndrome is a genetic disorder with high prevalence of congenital heart defects, such as pulmonary stenosis, atrial septal defect and hypertrophic cardiomyopathy. Scarce data exists regarding the safety of pregnancy in patients with Noonan syndrome, particularly in the context of maternal cardiac disease. Study design: We performed a retrospective chart review of patients at Yale-New Haven Hospital from 2012 to 2020 with diagnoses of Noonan syndrome and pregnancy. We analysed medical records for pregnancy details and cardiac health, including echocardiograms to quantify maternal cardiac dysfunction through measurements of pulmonary valve peak gradient, structural heart defects and interventricular septal thickness. Results: We identified five women with Noonan syndrome (10 pregnancies). Three of five patients had pulmonary valve stenosis at the time of pregnancy, two of which had undergone cardiac procedures. 50% of pregnancies (5/10) resulted in pre-term birth. 80% (8/10) of all deliveries were converted to caesarean section after a trial of labour. One pregnancy resulted in intra-uterine fetal demise while nine pregnancies resulted in the birth of a living infant. 60% (6/10) of livebirths required care in the neonatal intensive care unit. One infant passed away at 5 weeks of age. Conclusions: The majority of mothers had pre-existing, though mild, heart disease. We found high rates of prematurity, conversion to caesarean section, and elevated level of care. No maternal complications resulted in long-term morbidity. Our study suggests that women with Noonan syndrome and low-risk cardiac lesions can become pregnant and deliver a healthy infant with counselling and risk evaluation.

Cardiopulmonary Function Assessment in Children With Pulmonary Valve Stenosis

ObjectivePulmonary valve (PV) stenosis affects cardiac pulmonary function and exercise performance. A cardiopulmonary exercise test (CPET) combined with a transthoracic echocardiogram (TTE) can measure exercise performance, disease progression, and treatment effects. We assessed the exercise capacity in children with PV stenosis by conducting CPET and TTE.MethodsFrom 2005 to 2021, 84 patients with PV stenosis aged 6–18 years were enrolled; 43 were treated with balloon pulmonary valvuloplasty (BPV) (Group A), and 41 received follow-up care (Group B), and their CPET and pulmonary function test results were compared with 84 healthy, matched individuals (Control). We also conducted TTE to compare the peak pulmonary artery pulse wave velocity and pulmonary valve (PV) area before and after catheterization and follow-up care.ResultsThere were no significant differences among the CPET parameters of the patient groups and controls in anaerobic metabolic equivalent (MET) (group A: 6.44 ± 0.58; group B: 6.28 ± 0.47, control: 6.92 ± 0.39, p = 0.110), peak MET (group A: 9.32 ± 0.74; group B: 9.13 ± 0.63; control: 9.80 ± 0.52, p = 0.263), and heart rate recovery (group A: 28.04 ± 4.70; group B: 26.44 ± 3.43, control:26.10 ± 2.42, p = 0.718). No significant differences were found in the pulmonary functions between the three groups. The pulmonary artery pulse wave velocity significantly decreased after catheterization (3.97 ± 1.50 vs. 1.95 ± 0.94, p < 0.0001), but not after follow-up care (1.67 ± 0.77 vs. 1.75 ± 0.66, p = 0.129). The pulmonary vale area significantly improved in group A (0.89 ± 0.71 vs. 1.16 ± 0.58, p < 0.0001), whereas only insignificant progression of PV stenosis was observed in group B (1.60 ± 0.64 vs. 1.57 ± 0.65, p = 0.110).ConclusionsPatients treated with BPV had a similar exercise capacity with that of patients under follow-up care and the healthy controls. Larger or multi-center studies should be conducted to confirm the physical fitness of pediatric patients with PV stenosis after management.

Tissue Engineered Transcatheter Pulmonary Valved Stent Implantation: Current State and Future Prospect

Patients with the complex congenital heart disease (CHD) are usually associated with right ventricular outflow tract dysfunction and typically require multiple surgical interventions during their lives to relieve the right ventricular outflow tract abnormality. Transcatheter pulmonary valve replacement was used as a non-surgical, less invasive alternative treatment for right ventricular outflow tract dysfunction and has been rapidly developing over the past years. Despite the current favorable results of transcatheter pulmonary valve replacement, many patients eligible for pulmonary valve replacement are still not candidates for transcatheter pulmonary valve replacement. Therefore, one of the significant future challenges is to expand transcatheter pulmonary valve replacement to a broader patient population. This review describes the limitations and problems of existing techniques and focuses on decellularized tissue engineering for pulmonary valve stenting.

COMBINED SEVERE AORTIC AND PULMONARY VALVULAR STENOSIS IN A CHILD AND ITS MANAGEMENT: A CASE REPORT

Combined congenital aortic and pulmonary valvular stenosis is a rare congenital heart defect. Prevalence of severe combined valvular stenosis of aortic and pulmonary valve accounts about 0.01% and also has association with many syndromes. This combination presents unusual diagnostic as well as management problems. Apart from a few case reports, there is little in the literature on the combined stenosis of both semilunar valves and its management. We present this rare combination in a 9 year old boy which was promptly managed with the balloon valvoplasty without any complications in the same setting under local anesthesia with sedation.

Is Porcine Small Intestinal Submucosal Extracellular Matrix (ECM) a Suitable Material for Right Ventricular Outflow Tract Reconstruction in Association With Pulmonary Valve Replacement?

Pulmonary valve replacement (PVR) with right ventricular outflow tract (RVOT) reconstruction is a common congenital cardiac operation. Porcine submucosal intestinal-derived extracellular matrix (ECM) patches have been used for RVOT reconstruction. We present 2 adult patients with Tetralogy of Fallot who underwent PVR with RVOT reconstruction utilizing ECM. Both cases required reoperation due to patch dehiscence causing a large paravalvular leak. One patient also had a pseudoaneurysm associated with ECM dehiscence. There may be a propensity for ECM dehiscence in this application and, based on these cases, we recommend avoidance of ECM in RVOT reconstruction with PVR. PVR patients repaired with ECM should be monitored for this complication.