Fetal single ventricle journey to first postnatal procedure: a multicentre UK cohort study.

OBJECTIVES: UK single ventricle (SV) palliation outcomes after first postnatal procedure (FPP) are well documented. However, survival determinants from fetal diagnosis to FPP are lacking. To better inform parental-fetal counselling, we examined factors favouring survival at two large UK centres. DESIGN: Retrospective multicentre cohort study. SETTING: Two UK congenital cardiac centres: Leeds and Birmingham. PATIENTS: SV fetal diagnoses from 2015 to 2021. MAIN OUTCOME MEASURES: Survival from fetal diagnosis with intention to treat (ITT) to birth and then FPP. Maternal, fetal and neonatal risk factors were assessed. RESULTS: There were 666 fetal SV diagnoses with 414 (62%) ITT. Of ITT, 381 (92%) were live births and 337 (81%) underwent FPP. Survival (ITT) to FPP was notably reduced for severe Ebstein's 14/22 (63.6%), unbalanced atrioventricular septal defect 32/45 (71%), indeterminate SV 3/4 (75%), mitral atresia 8/10 (80%) and hypoplastic left heart syndrome 127/156 (81.4%). Biventricular pathway was undertaken in five (1%). After multivariable adjustment, prenatal risk factors for mortality were increasing maternal age (OR 1.05, 95% CI 1.0 to 1.1), non-white ethnicity (OR 2.6, 95% CI 1.4 to 4.8), extracardiac anomaly (OR 6.34, 95% CI 1.8 to 22.7) and hydrops (OR 7.39, 95% CI 1.2 to 45.1). Postnatally, prematurity was significantly associated with mortality (OR 6.3, 95% CI 2.3 to 16.8). CONCLUSIONS: Around 20% of ITT fetuses diagnosed with SV will not reach FPP. Risk varies according to the cardiac lesion and is significantly influenced by the presence of an extracardiac anomaly, fetal hydrops, ethnicity, increasing maternal age and gestation at birth. These data highlight the need for fetal preprocedure data to be used in conjunction with procedural outcomes for fetal counselling.

Successful treatment of refractory chylothorax with MEK inhibitor trametinib in a child with Noonan syndrome: case report.

Background: Refractory chylous effusions due to lymphatic dysplasia related to Noonan syndrome cause significant morbidity and mortality due to protein and immunoglobulin losses. Very few cases have been published reporting successful treatment of patients with trametinib where all conventional treatments had failed. Case summary: We present a girl with Noonan syndrome and hypertrophic cardiomyopathy who presented with life-threatening refractory chylothorax where all conventional treatment options failed. She was successfully treated with mitogen-activated extracellular signal-regulated kinase inhibitor trametinib. Discussion: MEK inhibition with trametinib is emerging as a possible salvage treatment option for a subset of patients with Noonan syndrome and severe pulmonary lymphangiectasia. More experience is required to establish optimal treatment regimen and long-term outcomes.

Performance of a single-ventricle home-monitoring programme: survival and predictors of adverse outcome.

INTRODUCTION AND BACKGROUND: Mortality between stages 1 and 2 single-ventricle palliation is significant. Home-monitoring programmes are suggested to reduce mortality. Outcomes and risk factors for adverse outcomes for European programmes have not been published. AIMS: To evaluate the performance of a home-monitoring programme at a medium-sized United Kingdom centre with regards survival and compare performance with other home-monitoring programmes in the literature. METHODS: All fetal and postnatal diagnosis of a single ventricle were investigated with in-depth analysis of those undergoing stage 1 palliation and entered the home-monitoring programme between 2016 and 2020. The primary outcome was survival. Secondary outcomes included multiple parameters as potential predictors of death or adverse outcome. RESULTS: Of 217 fetal single-ventricle diagnoses during the period 2016-2020, 50.2% progressed to live birth, 35.4% to stage 1 and 29.5% to stage 2. Seventy-four patients (including 10 with postnatal diagnosis) entered the home-monitoring programme with six deaths making home-monitoring programme mortality 8.1%. Risk factors for death were the hybrid procedure as the only primary procedure (OR 33.0, p < 0.01), impaired cardiac function (OR 10.3, p < 0.025), Asian ethnicity (OR 9.3, p < 0.025), lower mean birth-weight (2.69 kg versus 3.31 kg, p < 0.01), and lower mean weight centiles during interstage follow-up (mean centiles of 3.1 versus 10.8, p < 0.01). CONCLUSION: Survival in the home-monitoring programme is comparable with other home-monitoring programmes in the literature. Hybrid procedure, cardiac dysfunction, sub-optimal weight gain, and Asian ethnicity were significant risk factors for death. Home-monitoring programmes should continue to raise awareness of these factors and seek solutions to mitigate adverse events. Future work to generalise home-monitoring programme and single-ventricle fetus to stage 2 outcomes in the United Kingdom will require multi-centre collaboration.

Post-infarction ventricular septal defect: percutaneous or surgical management in the UK national registry.

AIMS: Post-infarction ventricular septal defect (PIVSD) is a mechanical complication of acute myocardial infarction (AMI) with a poor prognosis. Surgical repair is the mainstay of treatment, although percutaneous closure is increasingly undertaken. METHODS AND RESUTS: Patients treated with surgical or percutaneous repair of PIVSD (2010-2021) were identified at 16 UK centres. Case note review was undertaken. The primary outcome was long-term mortality. Patient groups were allocated based upon initial management (percutaneous or surgical). Three-hundred sixty-two patients received 416 procedures (131 percutaneous, 231 surgery). 16.1% of percutaneous patients subsequently had surgery. 7.8% of surgical patients subsequently had percutaneous treatment. Times from AMI to treatment were similar [percutaneous 9 (6-14) vs. surgical 9 (4-22) days, P = 0.18]. Surgical patients were more likely to have cardiogenic shock (62.8% vs. 51.9%, P = 0.044). Percutaneous patients were substantially older [72 (64-77) vs. 67 (61-73) years, P < 0.001] and more likely to be discussed in a heart team setting. There was no difference in long-term mortality between patients (61.1% vs. 53.7%, P = 0.17). In-hospital mortality was lower in the surgical group (55.0% vs. 44.2%, P = 0.048) with no difference in mortality after hospital discharge (P = 0.65). Cardiogenic shock [adjusted hazard ratio (aHR) 1.97 (95% confidence interval 1.37-2.84), P < 0.001), percutaneous approach [aHR 1.44 (1.01-2.05), P = 0.042], and number of vessels with coronary artery disease [aHR 1.22 (1.01-1.47), P = 0.043] were independently associated with long-term mortality. CONCLUSION: Surgical and percutaneous repair are viable options for management of PIVSD. There was no difference in post-discharge long-term mortality between patients, although in-hospital mortality was lower for surgery.

Surgical versus transcatheter palliation for insufficient pulmonary blood supply in infants with cyanotic CHD.

Infants with complex cyanotic CHD can become symptomatic from insufficient pulmonary blood supply following either ductal closure or due to outflow tract obstruction. Blalock-Taussig shunt mortality remains significant and recent studies have highlighted the advantages of using transcatheter alternatives. We present here our experience in changing our primary choice of palliation from the Blalock-Taussig shunt to transcatheter palliation with either a ductal stent or, if antegrade flow is present, a right ventricular outflow tract stent.This is a retrospective, single-unit cohort study. Eighty-seven infants underwent palliation for insufficient pulmonary blood flow at under 3 months of age between 2012 and 2019. On an intention-to-treat basis, 29 underwent insertion of a Blalock-Taussig shunt, 36 duct stents, and 22 right ventricular outflow tract stents at median ages of 15, 9, and 32 days, respectively, and median weights of 3.3, 3.1, and 3.1 kg, respectively. No primary Blalock-Taussig shunts have been performed in our institution since 2017.At 30-days there had been one death in each group (univariable p = 0.93) and deaths prior to repair totalled three in the shunt group, four in the ductal stent group, and two in the right ventricular outflow tract stent group (univariable p = 0.93). Reintervention on the pulmonary circuit prior to next stage of surgery was more frequent in those undergoing transcatheter intervention, reaching statistical significance by logrank (p = 0.012).In conclusion, within this work we provide further evidence of the safety and efficacy of transition from a primary surgical to primary transcatheter palliation pathway in infants with insufficient pulmonary blood supply.

Age over 35 years is associated with increased mortality after pulmonary valve replacement in repaired tetralogy of Fallot: results from the UK National Congenital Heart Disease Audit database.

OBJECTIVES: Many adults with repaired tetralogy of Fallot will require a pulmonary valve replacement (PVR), but there is no consensus on the best timing. In this study, we aim to evaluate the impact of age at PVR on outcomes. METHODS: This is a national multicentre retrospective study including all patients >15 years of age with repaired tetralogy of Fallot who underwent their first PVR between 2000 and 2013. The optimal age cut-off was identified using Cox regression and classification and regression tree analysis. RESULTS: A total of 707 patients were included, median age 26 (15-72) years. The mortality rate at 10 years after PVR was 4.2%, and the second PVR rate of 6.8%. Age at PVR of 35 years was identified as the optimal cut-off in relation to late mortality. Patients above 35 years of age had a 5.6 fold risk of death at 10 years compared with those with PVR under 35 years (10.4% vs 1.3%, P < 0.001), more concomitant tricuspid valve repair/replacement (15.1% vs 5.7%, P < 0.001) and surgical arrhythmia treatment (18.4% vs 5.9%, P < 0.001). In those under 50 years, there was an 8.7 fold risk of late death compared with the general population, higher for those with PVR after 35 than those with PVR below 35 years (hazard ratio 9.9 vs 7.4). CONCLUSIONS: Patients above 35 years of age with repaired tetralogy of Fallot have significantly worse mortality after PVR, compared with younger patients and a higher burden of mortality relative to the general population. This suggests that there are still cases where the timing of initial PVR is not optimal, warranting a re-evaluation of criteria for intervention.

Duct Stenting Versus Modified Blalock-Taussig Shunt in Neonates With Duct-Dependent Pulmonary Blood Flow: Associations With Clinical Outcomes in a Multicenter National Study.

BACKGROUND: Infants born with cardiac abnormalities causing dependence on the arterial duct for pulmonary blood flow are often palliated with a shunt usually between the subclavian artery and either pulmonary artery. A so-called modified Blalock-Taussig shunt allows progress through early life to an age and weight at which repair or further more stable palliation can be safely achieved. Modified Blalock-Taussig shunts continue to present concern for postprocedural instability and early mortality such that other alternatives continue to be explored. Duct stenting (DS) is emerging as one such alternative with potential for greater early stability and improved survival. METHODS: The purpose of this study was to compare postprocedural outcomes and survival to next-stage palliative or reparative surgery between patients undergoing a modified Blalock-Taussig shunt or a DS in infants with duct-dependent pulmonary blood flow. All patients undergoing cardiac surgery and congenital interventions in the United Kingdom are prospectively recruited to an externally validated national outcome audit. From this audit, participating UK centers identified infants <30 days of age undergoing either a Blalock-Taussig shunt or a DS for cardiac conditions with duct-dependent pulmonary blood flow between January 2012 and December 31, 2015. One hundred seventy-one patients underwent a modified Blalock-Taussig shunt, and in 83 patients, DS was attempted. Primary and secondary outcomes of survival and need for extracorporeal support were analyzed with multivariable logistic regression. Longer-term mortality before repair and reintervention were analyzed with Cox proportional hazards regression. All multivariable analyses accommodated a propensity score to balance patient characteristics between the groups. RESULTS: There was an early (to discharge) survival advantage for infants before next-stage surgery in the DS group (odds ratio, 4.24; 95% confidence interval, 1.37-13.14; P=0.012). There was also a difference in the need for postprocedural extracorporeal support in favor of the DS group (odds ratio, 0.22; 95% confidence interval, 0.05-1.05; P=0.058). Longer-term survival outcomes showed a reduced risk of death before repair in the DS group (hazard ratio, 0.25; 95% confidence interval, 0.07-0.85; P=0.026) but a slightly increased risk of reintervention (hazard ratio, 1.50; 95% confidence interval, 0.85-2.64; P=0.165). CONCLUSIONS: DS is emerging as a preferred alternative to a surgical shunt for neonatal palliation with evidence for greater postprocedural stability and improved patient survival to destination surgical treatment.

A reinforced right-ventricle-to-pulmonary-artery conduit for the stage-1 Norwood procedure improves pulmonary artery growth.

OBJECTIVE: To compare early postoperative outcomes, angiographic, and intervention findings and 1-year survival between 2 groups of infant patients: those receiving a standard right-ventricle-to-pulmonary-artery (RV-PA) conduit versus a ring-reinforced RV-PA conduit, in undergoing Norwood stage-1 surgery for hypoplastic left heart syndrome (HLHS). The technique of using such a ring-reinforced graft, placed through a limited ventriculotomy, has theoretic advantages in preserving right ventricular function, compared with the standard technique of RV-PA conduit creation. METHODS: This retrospective cohort study was performed between July 2006 and July 2013. A total of 87 patients with HLHS underwent Norwood stage-1 surgery during this period; 48 received a standard nonreinforced RV-PA conduit; 39 received a ring-reinforced conduit. Primary and secondary outcomes were survival and need for cardiac reintervention up to age 12 months. RESULTS: No difference was found in transplant-free survival by age 12 months (87% ring-reinforced vs 73% nonreinforced, P = .12). The group with the nonreinforced, versus ring-reinforced, grafts had more interventions in the first year (69% vs 35%, respectively; P < .01). Before stage 2, the pulmonary artery pulse pressure was greater in the group with ring-reinforced grafts (9.1 ± 4.1 vs 4.8 ± 3.1 mm Hg, P < .001), with no difference in mean pressure (15.2 ± 3.32 vs 14.3 ± 3.48 mm Hg, P = .27). The corrected pulmonary artery index (Nakata) was greater in the group with ring-reinforced grafts (213 ± 76 vs 134 ± 68 mm(2)/m(2), P < .0001). CONCLUSIONS: A ring-reinforced conduit is associated with reduced intervention, as well as higher pulse pressures and improved pulmonary artery growth, in infants undergoing stage-1 palliation for HLHS.

Does the technique of interventional closure of perimembranous ventricular septal defect reduce the incidence of heart block?

OBJECTIVE: To describe the difficulties and differing techniques in the transcatheter placement of amplatz ventricular septal defect devices to close perimembranous ventricular septal defects and place these in the context of the expanding literature on ventricular septal defect catheter closure. BACKGROUND: Surgery remains the established first-line therapy for closure of haemodynamically significant perimembranous ventricular septal defects. Transcatheter techniques appeared to promise a possible alternative, obviating the need for cardiac surgery. However, significant technical and anatomical constraints coupled with ongoing reports of a high incidence of heart block have prevented these hopes from being realised to any significant extent. It is likely that there are important methodological reasons for the high complication rates observed. The potential advantages of transcatheter perimembranous ventricular septal defect closure over surgery warrant further exploration of differing transcatheter techniques. METHODS: Between August, 2004 and November, 2009, 21 patients had a perimembranous ventricular septal defect closed with transcatheter techniques. Of these, 14 were closed with a muscular amplatz ventricular septal defect device. The median age and weight at device placement were 8 years, ranging from 2 to 19 years, and 18.6 kilograms, ranging from 10 to 21 kilograms, respectively. RESULTS: There were 25 procedures performed on 23 patients using 21 amplatz ventricular septal defect devices. Median defect size on angiography was 7.8 millimetres, ranging from 4 to 14.3 millimetres, with a median device size of 8 millimetres, ranging from 4 to 18 millimetres, and a defect/device ratio of 1.1, with a range from 0.85 to 1.33. Median procedure time was 100 minutes, with a range from 38 to 235 minutes. Adverse events included device embolisation following haemolysis in one, and new aortic incompetence in another, but there were no cases of heart block. Median follow-up was 41.7 months, with a range from 2 to 71 months. CONCLUSIONS: Evaluating transcatheter closure of perimembranous ventricular septal defect using amplatz ventricular septal defect devices remains important, if a technically feasible method with low and acceptable complication rates is to be identified. Incidence of heart block may be minimised by avoiding oversized devices, using muscular devices, and accepting defeat if an appropriately selected device pulls through. Given the current transcatheter technologies, the closure of perimembranous ventricular septal defects should generally be performed in children when they weigh at least 10 kilograms.