BeGraft Aortic Stents: A European Multi-Centre Experience Reporting Acute Safety and Efficacy Outcomes for the Treatment of Vessel Stenosis in Congenital Heart Diseases.

BACKGROUND: Stent implantation has become the preferred method of treatment for treating vessel stenosis in congenital heart diseases. The availability of covered stents may decrease complications and have an important role in the management of patients with complex anatomy. AIM: This study aims to evaluate the feasibility and safety of the pre-mounted cobalt-chromium stent-graft-covered ePTFE Aortic BeGraft in a broad spectrum of vascular lesions. METHODS: This is a multicenter retrospective results analysis of 107 implanted BeGraft stents between 2016 and 2022 in six different European centers. RESULTS: One hundred and four patients with a mean age of thirteen years (range 1-70 years) and with the body weight of 56.5 kg (range 11-115 kg) underwent the BeGraft stent implantation. Stents were implanted in the following conditions: aortic coarctation (74 patients), RVOT dysfunction (12 patients), Fontan circulation (7 patients), and miscellaneous (11 subjects with complex CHD). All the stents were implanted successfully. The median stent diameter was 16 mm (range 7-24 mm), and the median length was 39 mm (range 19-49 mm). Major complications occurred in five subjects (4.7%). During a median follow-up of fourteen (1-70) months, stents' re-dilatation was performed in five patients. CONCLUSIONS: The BeGraft stent can be used safely and effectively in a wide spectrum of congenital heart diseases. Whether these good results will be stable in the longer term still needs to be investigated in a follow-up given its recent introduction into clinical practice, in particular regarding stent fracture or neointimal proliferation.

Pulmonary Hypertension Induced by Right Pulmonary Artery Occlusion: Hemodynamic Consequences of Bmpr2 Mutation.

BACKGROUND: The primary genetic risk factor for heritable pulmonary arterial hypertension is the presence of monoallelic mutations in the BMPR2 gene. The incomplete penetrance of BMPR2 mutations implies that additional triggers are necessary for pulmonary arterial hypertension occurrence. Pulmonary artery stenosis directly raises pulmonary artery pressure, and the redirection of blood flow to unobstructed arteries leads to endothelial dysfunction and vascular remodeling. We hypothesized that right pulmonary artery occlusion (RPAO) triggers pulmonary hypertension (PH) in rats with Bmpr2 mutations. METHODS AND RESULTS: Male and female rats with a 71 bp monoallelic deletion in exon 1 of Bmpr2 and their wild-type siblings underwent acute and chronic RPAO. They were subjected to full high-fidelity hemodynamic characterization. We also examined how chronic RPAO can mimic the pulmonary gene expression pattern associated with installed PH in unobstructed territories. RPAO induced precapillary PH in male and female rats, both acutely and chronically. Bmpr2 mutant and male rats manifested more severe PH compared with their counterparts. Although wild-type rats adapted to RPAO, Bmpr2 mutant rats experienced heightened mortality. RPAO induced a decline in cardiac contractility index, particularly pronounced in male Bmpr2 rats. Chronic RPAO resulted in elevated pulmonary IL-6 (interleukin-6) expression and decreased Gdf2 expression (corrected P value<0.05 and log2 fold change>1). In this context, male rats expressed higher pulmonary levels of endothelin-1 and IL-6 than females. CONCLUSIONS: Our novel 2-hit rat model presents a promising avenue to explore the adaptation of the right ventricle and pulmonary vasculature to PH, shedding light on pertinent sex- and gene-related effects.

Three-Decade Experience With Management of Coronary Artery Fistulas in Children.

BACKGROUND: The treatment approach for coronary artery fistulas (CAFs) is debatable, and long-term outcomes are unknown. METHODS: This was a retrospective institutional data review of children in whom echocardiographically suspected CAFs were confirmed during cardiac catheterisation from 1997 to 2023. Treatment approach and outcomes were assessed. RESULTS: We identified 94 CAFs in 78 patients (42.3% male), median age 3.4 years (interquartile range [IQR] 0.9-6.6 y). Twenty-five patients (32%) had other congenital anomalies; 41 (78.8%) of the 52 patients with isolated CAFs were asymptomatic. The most common site of CAF origin and drainage was the left system (62.8%) and right cardiac cavities (80.8%). Overall median follow-up was 101 months (iqr 41-185 mo); 23 patients (29.5%) with 35 (37.2%) small or nonshunting CAFs had conservative management, and 20 (87%) of those 23 patients had an uneventful follow-up; 8 patients (10.2%) with 9 (9.6%) complex CAFs were directly sent for surgery; 1 patient had early surgical patch failure needing surgical reintervention; 47 patients (60.3%) had catheter closure of 50 (53.2%) medium- or large-sized CAFs with the use of coils (30%), vascular plugs (20%), nitinol duct occluders (40%), or material combination (10%). Six serious complications occurred. Two-thirds of patients with unsuccessful catheter procedures had subsequent surgeries. Two-thirds of patients with mild shunts had successful redo closures. One asymptomatic patient had recanalisation after 12 years and is under watchful observation. CONCLUSIONS: CAFs have various anatomies and clinical presentations. Transcatheter closure is effective in carefully selected patients but is not complication free. Surgery is a valuable up-front option in complex CAFs or bailout of unsuccessful transcatheter closures, although it is not frequently used.

Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus.

UNC93B1 is a transmembrane domain protein mediating the signaling of endosomal Toll-like receptors (TLRs). We report five families harboring rare missense substitutions (I317M, G325C, L330R, R466S, and R525P) in UNC93B1 causing systemic lupus erythematosus (SLE) or chilblain lupus (CBL) as either autosomal dominant or autosomal recessive traits. As for a D34A mutation causing murine lupus, we recorded a gain of TLR7 and, to a lesser extent, TLR8 activity with the I317M (in vitro) and G325C (in vitro and ex vivo) variants in the context of SLE. Contrastingly, in three families segregating CBL, the L330R, R466S, and R525P variants were isomorphic with respect to TLR7 activity in vitro and, for R525P, ex vivo. Rather, these variants demonstrated a gain of TLR8 activity. We observed enhanced interaction of the G325C, L330R, and R466S variants with TLR8, but not the R525P substitution, indicating different disease mechanisms. Overall, these observations suggest that UNC93B1 mutations cause monogenic SLE or CBL due to differentially enhanced TLR7 and TLR8 signaling.

Prophylactic Pulmonary Artery Banding in Pediatric Dilated Cardiomyopathy: An Additional Therapeutic Option.

Dilated cardiomyopathy (DCM) is the most common childhood cardiomyopathy and is associated with considerable early mortality. Heart transplantation is often the only viable life-saving option. Pulmonary artery banding (PAB) has been recently proposed as a bridge or alternative to transplantation for DCM. In our cohort, PAB was selectively addressed to heritable DCM or DCM with congenital left ventricle aneurysm (CLVA). This study aimed to describe the clinical evolution and left ventricle reverse remodeling (LVRR) over time (6 months and 1 year after surgery). Ten patients with severe DCM received PAB between 2016 and 2021 and underwent clinical and postoperative echocardiography follow-ups. The median age at PAB was <1 year. The in-hospital mortality was zero. Two patients died two months after PAB of end-stage heart failure. The modified Ross class was improved in the eight survivors with DCM and remained stable in the two patients with CLVA. We observed a positive LVRR (LV end-diastolic diameter Z-score: 8.4 ± 3.7 vs. 2.8 ± 3; p < 0.05; LV ejection fraction: 23.8 ± 5.8 to 44.5 ± 13.1 (p < 0.05)). PAB might be useful as part of the armamentarium available in infants and toddlers with severe DCM not sufficiently responding to medical treatment with limited probability of spontaneous recovery.

Pulmonary vascular phenotype identified in patients with GDF2 (BMP9) or BMP10 variants: an international multicentre study.

BACKGROUND: Bone morphogenetic proteins 9 and 10 (BMP9 and BMP10), encoded by GDF2 and BMP10, respectively, play a pivotal role in pulmonary vascular regulation. GDF2 variants have been reported in pulmonary arterial hypertension (PAH) and hereditary haemorrhagic telangiectasia (HHT). However, the phenotype of GDF2 and BMP10 carriers remains largely unexplored. METHODS: We report the characteristics and outcomes of PAH patients in GDF2 and BMP10 carriers from the French and Dutch pulmonary hypertension registries. A literature review explored the phenotypic spectrum of these patients. RESULTS: 26 PAH patients were identified: 20 harbouring heterozygous GDF2 variants, one homozygous GDF2 variant, four heterozygous BMP10 variants, and one with both GDF2 and BMP10 variants. The prevalence of GDF2 and BMP10 variants was 1.3% and 0.4%, respectively. Median age at PAH diagnosis was 30 years, with a female/male ratio of 1.9. Congenital heart disease (CHD) was present in 15.4% of the patients. At diagnosis, most of the patients (61.5%) were in New York Heart Association Functional Class III or IV with severe haemodynamic compromise (median (range) pulmonary vascular resistance 9.0 (3.3-40.6) WU). Haemoptysis was reported in four patients; none met the HHT criteria. Two patients carrying BMP10 variants underwent lung transplantation, revealing typical PAH histopathology. The literature analysis showed that 7.6% of GDF2 carriers developed isolated HHT, and identified cardiomyopathy and developmental disorders in BMP10 carriers. CONCLUSIONS: GDF2 and BMP10 pathogenic variants are rare among PAH patients, and occasionally associated with CHD. HHT cases among GDF2 carriers are limited according to the literature. BMP10 full phenotypic ramifications warrant further investigation.

Increased aortic pressures and pulsatile afterload components promote concentric left ventricular remodeling in adults with transposition of the great arteries and arterial switch operation.

BACKGROUND: Functional abnormalities of the ascending aorta (AA) have been mainly reported in young patients who underwent arterial switch operation (ASO) for transposition of the great arteries (TGA). OBJECTIVES: To compare systolic, diastolic brachial and central blood pressures (bSBP, bDBP, cSBP, cDBP), aortic biomechanical parameters, and left ventricular (LV) afterload criteria in adult ASO patients with healthy controls and to assess their relationships with LV remodeling and aortic size. MATERIALS AND METHODS: Forty-one prospectively enrolled patients (16.8 to 35.8 years) and 41 age- and sex-matched healthy volunteers underwent cardiac MRI to assess LV remodeling with simultaneous brachial BP estimation. After MRI, carotid-femoral tonometry was performed to measure pulse wave velocity (cfPWV), cSBP and cDBP for further calculation of pulse pressure (cPP), AA distensibility (AAD), and AA and LV elastance (AAE, LVE). RESULTS: bSBP, bDBP, cSBP,cDBP and cPP were all significantly higher in ASO group than in controls: cSBP (116.5 ± 13.8 vs 106.1 ± 12.0, p < 0.001), cDBP (72.5 ± 6.9 vs 67.1 ± 9.4, p = 0.002), cPP (44.0 ± 12.1 vs 39.1 ± 8.9, p = 0.003) and not related to aortic size. AAD were decreased in ASO patients vs controls (4.70 ± 2.72 vs 6.69 ± 2.16, p < 0.001). LV mass was correlated with bSBP, cSBP, cPP (ρ = 0.48; p < 0.001), while concentric LV remodeling was correlated with AAE (ρ = 0.60, p < 0.001) and LVE (ρ = 0.32, p = 0.04), but not with distensibility. CONCLUSION: Even without reaching arterial hypertension, aortic sBP and PP are increased in the adult TGA population after ASO, altering the pulsatile components of afterload and contributing to LV concentric remodeling.

Predicting Long-Term Childhood Survival of Newborns with Congenital Heart Defects: A Population-Based, Prospective Cohort Study (EPICARD).

Backgroud: Congenital heart defects (CHDs) are the most frequent group of major congenital anomalies, accounting for almost 1% of all births. They comprise a very heterogeneous group of birth defects in terms of their severity, clinical management, epidemiology, and embryologic origins. Taking this heterogeneity into account is an important imperative to provide reliable prognostic information to patients and their caregivers, as well as to compare results between centers or to assess alternative diagnostic and treatment strategies. The Anatomic and Clinical Classification of CHD (ACC-CHD) aims to facilitate both the CHD coding process and data analysis in clinical and epidemiological studies. The objectives of the study were to (1) Describe the long-term childhood survival of newborns with CHD, and (2) Develop and validate predictive models of infant mortality based on the ACC-CHD. Methods: This study wasbased on data from a population-based, prospective cohort study: Epidemiological Study of Children with Congenital Heart Defects (EPICARD). The final study population comprised 1881 newborns with CHDs after excluding cases that were associated with chromosomal and other anomalies. Statistical analysis included non-parametric survival analysis and flexible parametric survival models. The predictive performance of models was assessed by Harrell's C index and the Royston-Sauerbrei RD2, with internal validation by bootstrap. Results: The overall 8-year survival rate for newborns with isolated CHDs was 0.96 [0.93-0.95]. There was a substantial difference between the survival rate of the categories of ACC-CHD. The highest and lowest 8-year survival rates were 0.995 [0.989-0.997] and 0.34 [0.21-0.50] for "interatrial communication abnormalities and ventricular septal defects" and "functionally univentricular heart", respectively. Model discrimination, as measured by Harrell's C, was 87% and 89% for the model with ACC-CHD alone and the full model, which included other known predictors of infant mortality, respectively. The predictive performance, as measured by RD2, was 45% and 50% for the ACC-CHD alone and the full model. These measures were essentially the same after internal validation by bootstrap. Conclusions: The ACC-CHD classification provided the basis of a highly discriminant survival model with good predictive ability for the 8-year survival of newborns with CHDs. Prediction of individual outcomes remains an important clinical and statistical challenge.

Early hybrid cardiac rehabilitation in congenital heart disease: the QUALIREHAB trial.

BACKGROUND AND AIMS: Cardiopulmonary fitness in congenital heart disease (CHD) decreases faster than in the general population resulting in impaired health-related quality of life (HRQoL). As the standard of care seems insufficient to encourage and maintain fitness, an early hybrid cardiac rehabilitation programme could improve HRQoL in CHD. METHODS: The QUALIREHAB multicentre, randomized, controlled trial evaluated and implemented a 12-week centre- and home-based hybrid cardiac rehabilitation programme, including multidisciplinary care and physical activity sessions. Adolescent and young adult CHD patients with impaired cardiopulmonary fitness were randomly assigned to either the intervention (i.e. cardiac rehabilitation) or the standard of care. The primary outcome was the change in HRQoL from baseline to 12-month follow-up in an intention-to-treat analysis. The secondary outcomes were the change in cardiovascular parameters, cardiopulmonary fitness, and mental health. RESULTS: The expected number of 142 patients was enroled in the study (mean age 17.4 ± 3.4 years, 52% female). Patients assigned to the intervention had a significant positive change in HRQoL total score [mean difference 3.8; 95% confidence interval (CI) 0.2; 7.3; P = .038; effect size 0.34], body mass index [mean difference -0.7 kg/m2 (95% CI -1.3; -0.1); P = .022; effect size 0.41], level of physical activity [mean difference 2.5 (95% CI 0.1; 5); P = .044; effect size 0.39], and disease knowledge [mean difference 2.7 (95% CI 0.8; 4.6); P = .007; effect size 0.51]. The per-protocol analysis confirmed these results with a higher magnitude of differences. Acceptability, safety, and short-time effect of the intervention were good to excellent. CONCLUSIONS: This early hybrid cardiac rehabilitation programme improved HRQoL, body mass index, physical activity, and disease knowledge, in youth with CHD, opening up the possibility for the QUALIREHAB programme to be rolled out to the adult population of CHD and non-congenital cardiac disease.

Application of a modified clinical classification for pulmonary arterial hypertension associated with congenital heart disease in children: emphasis on atrial septal defects and transposition of the great arteries. An analysis from the TOPP registry.

Aims: A proportion of patients with pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) do not fit in the current classification. We aimed to analyse the applicability of an adapted clinical classification of PAH-CHD to pediatric patients using the TOPP-1 registry (Tracking Outcomes and Practice in Pediatric Pulmonary Hypertension) and focus on atrial septal defects (ASD) and transposition of the great arteries (TGA). Methods and results: Hemodynamic and clinical data of all patients with PAH-CHD in the TOPP cohort were reviewed. Patients were classified according to predefined ABCDE categories (A: Eisenmenger syndrome, B: left-to-right shunt, C: coincidental defects, including all ASDs, D: corrected CHD, E: TGA), or as complex CHD (group 5), by 2 independent investigators. In case of disagreement, a third reviewer could either settle a final decision, or the patient was deemed not classifiable. Survival curves were calculated for each group and compared to idiopathic PAH patients of the registry. A total of 223 out of 531 patients in the registry had PAH-CHD, and 193 were categorized to the following groups: A 39(20%), B 27(14%), C 62(32%) including 43 ASDs, D 58(30%), E 7(4%), whereas 6 patients were categorized as group 5, and 10 patients were unable to be classified. No survival difference could be demonstrated between the groups. Conclusions: This modified classification seems to be more applicable to pediatric PAH-CHD patients than the previous classification, but some patients with PAH-CHD who never had a shunt remain unclassifiable. The role of ASD in pediatric PH should be reconsidered.

Postoperative catheter thrombaspiration to open an occluded right ventricle-to-pulmonary artery conduit in child.

We report on a 6-year-old girl (18 kg/120 cm) who was diagnosed on day 6 postoperative with an occlusive thrombosis of a right ventricle-to-pulmonary artery conduit in the setting of a Ross procedure that was performed for severe native aortic valve insufficiency secondary to late diagnosis of bacterial endocarditis. We applied the Indigo® aspiration system from Penumbra® (Alameda, USA) to mechanically dissolve and remove the thrombus, restore flow, gradually wean from extracorporeal support, and replace the conduit after 4 days. The patient experiences good surgical outcomes at 3 months of follow-up.

Neurodevelopmental outcomes of preterm and growth-restricted neonate with congenital heart defect: a systematic review and meta-analysis.

The purpose of the study is to assess the risks of neurodevelopmental morbidity among preterm and growth restricted youth with congenital heart defects (CHD). This systematic review and meta-analysis included observational studies assessing neurodevelopmental outcomes among children with CHD born preterm (i.e., before 37 weeks of gestation) or growth restricted (small-for-gestational age (SGA) with a birthweight < the 10th percentile or with low birthweight (LBW) < 2500 g). Studies were identified in Medline and Embase databases from inception until May 2022, with data extracted by two blinded reviewers. Risk of bias was assessed using the Critical Appraisal Skills Programme cohort checklist. Meta-analysis involved the use of random-effects models. Main outcome measures were neurodevelopmental outcomes including overall cognitive impairment and intellectual disability, IQ, communication, and motor skills scores. From 3573 reports, we included 19 studies in qualitative synthesis and 6 meta-analysis studies. Risk of bias was low in 8/19 studies. Cognitive impairment and intellectual disability were found in 26% (95% CI 20-32, I2 = 0%) and 19% (95% CI 7-35, I2 = 82%) of preterm children with CHD, respectively. Two studies documented a lower IQ score for SGA children who underwent CHD operations in comparison to non-SGA children who also underwent CHD operations. Two studies have reported lower IQ, communication, and motor skills in children with hypoplastic left heart syndrome (HLHS) and low birth weight compared to those with HLHS and expected birth weight. CONCLUSIONS: Based on a low level of evidence, prematurity and/or growth retardation appear to accentuate specific neurodevelopmental outcomes in certain CHD subgroups. Further evidence is needed to confirm these findings. TRIAL REGISTRATION: PROSPERO [CRD42020201414]. WHAT IS KNOWN: • Children born with CHD, preterm birth, or growth restriction at birth are independently at higher risk for neurodevelopmental impairment. • The additional effect of preterm birth and/or growth restriction on neurodevelopmental outcomes in children with CHD remains unclear. WHAT IS NEW: • Prematurity and/or growth retardation appear to accentuate specific neurodevelopmental outcomes in certain CHD subgroups. • Children with CHD, particularly those born preterm or with growth restriction, should undergo lifelong systematic comprehensive neurodevelopmental assessment.

Renal function after ductus arteriosus transcatheter closure with or without angiography in very preterm infants.

AIM: Transcatheter closure of the patent ductus arteriosus (TCPDA) is increasingly used in preterm infants as an alternative to surgical ligation. However, clinically ill preterm infants are at risk of contrast nephropathy due to the angiography contrast agents used during the procedure. METHODS: We performed a single-centre before-and-after comparative study in VLBW infants to compare the kinetics of serum creatinine during the first 4 days after TCPDA with or without angiography. RESULTS: 69 patients were included and divided into two groups: TCPDA with (contrast+; n = 37) and without (contrast-, n = 32) use of contrast agent. The median dose [range] of contrast agent was 1.0 mL/kg [0.6-2.4 mL/kg]. The change in serum creatinine level between day 2 to 4 after TCPCA and baseline decreased in the contrast- group (-17% [-46%; 18%]), while it increased in the contrast+ group (7% [-24%; 202%] p = 0.002). Comparison of blood urea levels between groups showed similar significant differences. The change in serum creatinine between day 2 to 4 and baseline was significantly correlated with the dose of contrast agent (r2 = 0.682; p < 0.001). CONCLUSION: The use of contrast agents during TCPDA can potentially harm the renal function of very preterm infants. Therefore, we advise minimising or avoiding the use of contrast agents.

Long-term outcome of children with newly diagnosed pulmonary arterial hypertension: results from the global TOPP registry.

BACKGROUND AND AIMS: The Tracking Outcomes and Practice in Pediatric Pulmonary Hypertension (TOPP) registry is a global network established to gain insights into the disease course and long-term outcomes of paediatric pulmonary arterial hypertension (PAH). Previously published cohorts in paediatric PAH are obscured by survival bias due to the inclusion of both prevalent (previously diagnosed) and incident (newly diagnosed) patients. The current study aims to describe long-term outcome and its predictors in paediatric PAH, exclusively of newly diagnosed patients. METHODS AND RESULTS: Five hundred thirty-one children with confirmed pulmonary hypertension, aged ≥3 months and <18 years, were enrolled in the real-world TOPP registry at 33 centres in 20 countries, from 2008 to 2015. Of these, 242 children with newly diagnosed PAH with at least one follow-up visit were included in the current outcome analyses. During long-term follow-up, 42 (17.4%) children died, 9 (3.7%) underwent lung transplantation, 3 (1.2%) atrial septostomy, and 9 (3.7%) Potts shunt palliation (event rates: 6.2, 1.3, 0.4, and 1.4 events per 100 person-years, respectively). One-, three-, and five-year survival free from adverse outcome was 83.9%, 75.2%, and 71.8%, respectively.Overall, children with open (unrepaired or residual) cardiac shunts had the best survival rates. Younger age, worse World Health Organization functional class, and higher pulmonary vascular resistance index were identified as independent predictors of long-term adverse outcome. Younger age, higher mean right atrial pressure, and lower systemic venous oxygen saturation were specifically identified as independent predictors of early adverse outcome (within 12 months after enrolment). CONCLUSION: This comprehensive analysis of survival from time of diagnosis in a large exclusive cohort of children newly diagnosed with PAH describes current-era outcome and its predictors.

Aorta Without Coronary Arteries: Anatomic Variants of a Rare Malformation.

Absence of connection of both coronary arteries to the aorta is an extremely rare congenital malformation. Most cases reported are anatomic variants of anomalous left coronary artery to pulmonary artery, found in isolation or in association with other congenital heart defects. We describe here four cases of patients born without any coronary artery connected to the aorta, including two with an almost complete absence of epicardial coronary arteries, one with single coronary artery to the right pulmonary artery, and one with left ventricular connection of a single coronary artery. Those exceptional coronary malformations have a poor prognosis and are often diagnosed at autopsy. Total absence of epicardial coronary arteries, present in two of our patients and described only once in the literature, leads us to reconsider current knowledge of human coronary artery development.

Cerebral embolic protection during transcatheter stent expansion of restrictive extra-cardiac Fontan conduit.

We report a 20-year-old female patient (76 Kg/164 cm) with an extra-cardiac Fontan circulation who was referred to our institution for exertional dyspnoea and desaturation. The patient was diagnosed with a large calcified thrombus at the level of the Fontan fenestration, protruding inside the lumen of the conduit and reducing the diameter by half with a 3 mmHg pressure gradient. Transcatheter stent expansion of the obstructed extra-cardiac conduit was done with a 48 mm long XXL PTFE-covered Optimus-CVS® under temporary cerebral embolic protection with a TriGUARD-3™ deflection filter device (Keystone Heart). There was no procedural complication and the 3 months clinical outcomes are good.

Outcomes of aortic valve repair in children stratified by complexity: Which outcome for which lesion?

OBJECTIVE: Aortic valvuloplasty frequency has significantly increased over the past 15 years. Surgical repair varies in complexity depending on valvular lesions. Our aim is to report results on the whole spectrum of aortic valvuloplasty techniques. METHODS: All children who consecutively underwent aortic valvuloplasty for aortic stenosis and/or aortic insufficiency between January 2006 and December 2020 at Necker Sick Children's Hospital (Paris, France) were included in a retrospective cohort study. Aortic valvuloplasty techniques were classified into 3 difficulty levels: (1) simple repair, corresponding to commissurotomy and/or shaving in aortic stenosis (AS) in neonates (group 1) and children >1 month (group 2); (2) intermediate-complexity repair, corresponding to commissuroplasty, leaflet resuspension, and fenestration closure in aortic insufficiency (leaflet prolapse in connective tissue disease, isolated leaflet prolapse and Laubry-Pezzi groups); and (3) complex repair requiring a pericardial patch to restore a functional aortic valve in mixed aortic valve disease (bicuspidization with neocommissure and cusp extension groups). RESULTS: During the study period, 324 children underwent aortic valvuloplasty. Survival and freedom from aortic valve reintervention at 10 years were, respectively, 86.1% and 50.9% in neonates with AS, 95.2% and 71.7% in children >1 month with AS, 93.8% and 79.5% in leaflet prolapse in connective tissue disease, 97.7% and 91.9% in isolated leaflet prolapse, 100% and 88% in those with Laubry-Pezzi syndrome, 97.4% and 84.8% in bicuspidization with neocommissure, and 100% and 54.2% in the cusp extension. CONCLUSIONS: Durability of aortic valvuloplasty techniques is satisfactory and offers the possibility to delay the Ross procedure, regardless of the lesion's complexity.

Infant congenital heart disease prevalence and mortality in French Guiana: a population-based study.

Background: Few studies have assessed the prevalence and mortality of simple or complex congenital heart diseases (CHD) in newborns. In Latin America and Caribbean (LAC), CHD epidemiology seems highly variable, with few population-based assessments and different methodologies between studies. To date, the situation in French Guiana, a French overseas territory located in South America between Brazil and Suriname, has never been described. Methods: We analysed CHD prevalence, characteristics and related infant mortality in French Guiana, with a population-based registry analysis of all fetal and live birth CHD cases in infants under 1 year (January 2012-December 2016). Findings: Overall, 33,796 births (32,975 live births) were registered, with 231 CHD (56 fetuses), including 215 live births. Most frequent CHD categories were anomalies of the ventricular outflow tract and extra-pericardial trunks, and ventricular septal defects. 18.6% (43/231) chromosomal or genetic anomalies, and 6.5% (15/231) terminations of pregnancy were observed. Total CHD prevalence was 68.4 [95% CI: 67.9-68.8] per 10,000, while live birth prevalence was 65.2 [95% CI: 64.7-65.7] per 10,000. Total infant mortality was 9.4/10,000 live births [95% CI 9.1-9.7], with highest rates for functionally univentricular hearts (FUH). Interpretation: A distinct profile for CHD is highlighted in French Guiana with elevated mortality linked to FUH. A potential determinant of the recognized excess mortality risk might be the presence of chromosomal or genetic anomalies in about a fifth of all CHD. This helps us to better understand CHD burden in this part of South America and provides future keys towards reducing CHD-related infant mortality. Funding: The authors received no financial support for the present research, authorship, and/or publication of this article.