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.

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.

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.

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.

A certain degree of pulmonary stenosis after total correction of tetralogy of Fallot has been considered acceptable. But the long-term outcomes are not well understood. We observed the natural course of immediate pulmonary stenosis and investigated related factors for progression.

Fifty-two patients with acceptable pulmonary stenosis immediately after operation were enrolled. Acceptable pulmonary stenosis was defined as peak pressure gradient between 15 and 45 mmHg by Doppler echocardiography. Latent class linear mixed model was used to differentiate patients with progressed pulmonary stenosis, and the factors related to progression were analysed.

Pulmonary stenosis progressed in 14 patients (27%). Between the progression group and no progression group, there were no significant differences in operative age, sex, and the use of the transannular patch technique. However, immediate gradient was higher in the progression group (32.1 mmHg versus 25.7 mmHg, p = 0.009), and the cut-off value was 26.8 mmHg (sensitivity = 65.3%, specificity = 65.8%). Main stenosis at the sub-valve was observed more frequently in the progression group (85.7% versus 52.6%, p = 0.027). Despite no difference in the preoperative pulmonary valve z value, the last follow-up pulmonary valve z value was significantly lower in the progression group (−1.15 versus 0.35, p = 0.002).

Pulmonary stenosis immediately after tetralogy of Fallot total correction might progress in patients with immediate pulmonary stenosis higher than ≥26.8 mmHg and the main site was sub-valve area.

Pulmonary valve stenosis is common in patients with Noonan’s syndrome. The response to balloon valvoplasty varies.

We assessed the correlation between re-intervention rate, immediate response, and the progress of the valve gradient over time after intervention.

This is a retrospective study conducted from 1995 to 2014.

Of 14 patients identified, seven had re-intervention 28±54 months (range 3–149, median 3.3) after valvoplasty. These patients did not have a significant decrease in gradient after intervention. Their gradient subsequently decreased during follow-up and then became static before increasing years after intervention. In contrast, the gradient of patients not requiring further intervention continually reduced over time. Demographics did not differ between these groups.

We could not identify predisposing factors for long-term success of pulmonary valvoplasty in Noonan’s patients, but the trajectory of gradients differs significantly between patients needing re-intervention from those who remain free from re-intervention.

Pulmonary balloon valvuloplasty is a safe and effective treatment for children with pulmonary valve stenosis. A few studies evaluate the long-term outcomes of the procedure, particularly the degree of pulmonary regurgitation. We evaluated the outcomes of children >1 year following valvuloplasty for pulmonary valve stenosis.

A retrospective analysis of children with pulmonary valve stenosis following pulmonary balloon valvuloplasty at a single institution was performed. Clinic summaries, catheterisation data, and echocardiographic data were reviewed. Inclusion criteria were isolated pulmonary valve stenosis, age <19 years at the time of intervention, and at least one echocardiogram performed at least 1 year after valvuloplasty.

A total of 53 patients met inclusion criteria. The median age at valvuloplasty was 0.4 years (0.01–10.6 years). The last follow-up was 4.8±2.3 years following valvuloplasty. The pre-valvuloplasty peak instantaneous gradient by echocardiography was 60.6±14.6 mmHg. The peak gradient at the first postoperative echocardiography was reduced to 25.5±12 mmHg (p<0.001), and further decreased to 14.8±15.8 mmHg (p<0.001) at the most recent follow-up. The degree of regurgitation increased from before valvuloplasty to after valvuloplasty (p<0.001) but did not progress at the most recent follow-up (p=0.17). Only three patients (5.7%) required re-intervention for increasing pulmonary stenosis (two surgical; one repeat balloon). No significant procedural complications occurred.

Pulmonary balloon valvuloplasty remains a safe and effective treatment for children with isolated pulmonary valve stenosis, with excellent long-term outcomes and no mortality. A few patients require further intervention. Long-term follow-up demonstrates decreased, residual stenosis. Patients have a small, acute increase in pulmonary regurgitation following valvuloplasty, but no long-term progression.

Surgical correction was the treatment of choice for pulmonary stenosis until three decades ago, when balloon valvuloplasty was implemented. The natural history of surgically relieved pulmonary stenosis has been considered benign but is actually unknown, as is the need for re-intervention.

The objective of this study was to investigate the morbidity and mortality of patients with surgically treated pulmonary stenosis operated at Aarhus University Hospital between 1957 and 2000.

The total study population included 80 patients. In-hospital mortality was 2/80 (2.5%), and an additional four patients died after hospital discharge; therefore, the long-term mortality was 5%. The maximum follow-up period was 57 years, with a median of 33 years. In all, 16 patients (20%) required at least one re-intervention. Pulmonary valve replacement due to pulmonary regurgitation was the most common re-intervention (67%). Freedom from re-intervention decreased >20 years after the initial repair. In addition, 45% of patients had moderate/severe pulmonary regurgitation, 38% had some degree of right ventricular dilatation, and 40% had some degree of tricuspid regurgitation, which did not require re-intervention at the present stage.

Surgical relief for pulmonary stenosis is efficient in relieving outflow obstruction; however, this efficiency is achieved at the cost of pulmonary regurgitation, leading to right ventricular dilatation and tricuspid regurgitation. When required, pulmonary valve replacement is performed most frequently >20 years after the initial surgery. Lifelong follow-up of patients treated surgically for pulmonary stenosis is emphasised in this group of patients, who might otherwise consider themselves cured.

The standard surgical management of patients with transposition of the great arteries, ventricular septal defect, and pulmonary stenosis is the Rastelli operation. Recently, en bloc rotation of the arterial trunk, by cutting out the aortic and the pulmonary root in one block and by rotating it 180°, has been introduced as a new option for anatomical repair.

To evaluate the effects of this surgical method on the conduction system, pre-operative, post-operative, and follow-up electrocardiograms as well as patient charts were reviewed retrospectively. A total of 16 consecutive patients with transposition of the great arteries and left outflow tract obstruction were treated with en bloc rotation.

During the post-operative period, there were two patients with complete atrio-ventricular block, one with junctional ectopic tachycardia, one with ventricular tachycardia, and one with supraventricular tachycardia. None of the patients had a typical right bundle branch block pattern before surgery; however, this pattern was detectable after surgery in eight out of 16 patients (50%), which persisted during the follow-up. All patients without typical right bundle branch block pattern showed a median QRS duration of 65 ms (54–112 ms) before surgery, 62 ms (54–122 ms) after surgery, and 84 ms (66–128 ms) at the last follow-up visit. This compares well with a similar Rastelli cohort, where a right bundle branch block prevalence of 77% was reported. Out of 16 patients, 12 showed non-specific ST changes and negative T-waves, which persisted during follow-up with an unknown significance for the future.

Our data suggest that en bloc rotation of the arterial trunk seems not to have more negative effects on the conduction system than the Rastelli operation.

We investigated the prevalence, type, and course of congenital cardiac defects and systemic hypertension in our patients with Williams-Beuren-Beuren syndrome.

We reviewed the clinical records of all patients with Williams-Beuren syndrome examined between 1981 and 2006. We identified 150 patients, aged from 7 months to 45 years, with a follow-up from 6 months to 25 years, the mean being 6.4 years. A cardiac anomaly was present in 113 of the 150 patients (75%). Defects were typical in over four-fifths of the group. We found supravalvar aortic stenosis in 73 of 113 patients (64.6%), isolated in 43. Pulmonary stenosis, isolated in 18 cases, was found in 51 of 113 (45.1%), while aortic coarctation and mitral valvar prolapse were each found in 7 (6.2%), 3 of the lesions is isolation. Atypical defects were found in 19 patients, tetralogy of Fallot in 2, atrial septal defects in 4, aortic and mitral valvar insufficiencies in 1 each, bicuspid aortic valves in 2, and ventricular septal defects in 9, 4 of the last being isolated. Systemic hypertension, observed in 33 patients (22%), was poorly controlled in 10. Diagnostic and/or interventional cardiac catheterization was undertaken in 24 patients, with 30 surgical procedures performed in 26 patients. Of the group, 3 patients died.

Cardiac defects were present in three-quarters of our patients. Pulmonary arterial lesions generally improved, while supravalvar aortic stenosis often progressed. Atypical cardiac malformations, particularly ventricular septal defects, occurred frequently. Systemic hypertension was found in one-fifth, even in the absence of structural cardiac defects. The short-term mortality was low.