Nationwide hospitalizations of patients with down syndrome and congenital heart disease over a 15-year period.

Down syndrome is one of the most common genetic diseases, generally associated with an increased probability of congenital heart diseases. This increased risk contributes to escalated levels of morbidity and mortality. In this study, we sought to analyze nationwide data of pediatric and adult patients with Down syndrome and congenital heart disease over a 15-year period. Data obtained from the hospital discharge form between 2001 and 2016 of patients diagnosed with Down syndrome in Italy and at least one congenital heart disease were included. Information on 12362 admissions of 6527 patients were included. Age at first admission was 6.2 ± 12.8 years and was a predictor of mortality (HR = 1.51, 95% CI 1.13-2.03, p = 0.006). 3923 (60.1%) patients underwent only one admission, while 2604 (39.9%) underwent multiple (> 1) admissions. There were 5846 (47.3%) admissions for cardiac related symptoms. Multiple admissions (SHR: 3.13; 95% CI: 2.99, 3.27; P < 0.01) and cardiac admissions (SHR: 2.00; 95% CI: 1.92, 2.09; P < 0.01) were associated with an increased risk of additional potential readmissions. There was an increased risk of mortality for patients who had cardiac admissions (HR = 1.45, 95% CI: 1.08-1.94, p = 0.012), and for those who underwent at least 1 cardiac surgical procedure (HR = 1.51, 95% CI 1.13-2.03, p = 0.006). CONCLUSIONS: A younger age at first admission is a predictor for mortality in patients with Down syndrome and congenital heart disease. If patients undergo more than one admission, the risk of further readmissions increases. There is a pivotal role for heart disease in influencing the hospitalization rate and subsequent mortality. WHAT IS KNOWN: • Down syndrome individuals often face an increased risk of congenital heart diseases. • Congenital heart diseases contribute significantly to morbidity and mortality in Down syndrome patients. WHAT IS NEW: • This study analyzes nationwide data covering a 15-year period of pediatric and adult patients in Italy with Down syndrome and congenital heart disease. • It identifies a younger age at first admission as a predictor for mortality in these patients, emphasizing the criticality of early intervention. • Demonstrates a correlation between multiple admissions, particularly those related to cardiac issues, and an increased risk of further readmissions, providing insights into the ongoing healthcare needs of these individuals.

Anomalous left coronary artery from pulmonary artery repair: Outcomes from the European Congenital Heart Surgeons Association Database.

INTRODUCTION: We sought to determine the surgical outcomes of patients with anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) enrolled in the European Congenital Heart Surgeons Association (ECHSA) database. MATERIALS AND METHODS: From 1999 to 2019, 907 patients with ALCAPA underwent surgical repair and were included in the current study. The primary outcome was in-hospital mortality. Secondary outcomes included frequency and results of concomitant mitral valve surgery and postoperative mechanical circulatory support (MCS). RESULTS: The overall in-hospital mortality was 6% (54/907) and was significantly higher in neonates (p = .01), patients with lower body surface area (BSA) (p = .01), and those requiring postoperative MCS (p = .001). Associated mitral valve surgery was performed in 144 patients (15.9%) and was associated with longer cardiopulmonary bypass (CPB) and aortic cross-clamp times (AOX) (p ≤ .0001) but was not significantly related to an increase in in-hospital mortality. Postoperative MCS was required in 66 patients (7.3%). These patients were younger (p ≤ .001), had a lower BSA (p ≤ .001), and required a longer CPB (p ≤ .001) and AOX time (p ≤ .001). CONCLUSIONS: ALCAPA repair can be achieved successfully, and with low surgical risk. Concomitant mitral valve procedures can be performed without increasing operative mortality. The use of MCS remains a valuable option, especially in younger patients.

Modified extracardiac Fontan with a fenestrated pericardial patch.

Extracardiac Fontan is a preferred treatment strategy in many centers treating patients with single ventricle physiology, and many of these centers regularly include a fenestration between the extracardiac conduit and the common atrium. Spontaneous closure of the fenestration is a common complication of this technique and is independently associated with increased morbidity and mortality. Recently, we introduced a novel technique for fenestration of the extracardiac conduit wherein a pericardial patch is utilized at the fenestration point with excellent outcomes in the midterm fenestration patency rates, thus reducing the risk of acute post-Fontan complications.

The introduction of surgical simulation on three-dimensional-printed models in the cardiac surgery curriculum: an experimental project.

AIMS: Training in congenital cardiac surgery has become more and more difficult because of the reduced opportunities for trainees in the operating room and the high patient anatomical variability. The aim of this study was to perform a pilot evaluation of surgical simulation on a simple 3D-printed heart model in training of young surgeons and its potential inclusion in the curriculum of residency programs. METHODS: A group of 11 residents performed a surgical correction of aortic coarctation using a 3D-printed surgical model. After teaching the surgical procedure, a simulation was performed twice, at different times, and was evaluated quantitatively and qualitatively by a senior surgeon. A 3D model-based training program was then developed and incorporated into our cardiac surgery training program. RESULTS: A significant improvement in surgical technique was observed between the first and second surgical simulations: median of 65% [interquartile range (IQR) = 61-70%] vs. 83% (IQR = 82-91%, P < 0.001). The median time required to run the simulation was significantly shorter during the second simulation: 39 min (IQR = 33-40) vs. 45 min (IQR = 37-48; P = 0.02). Regarding the simulation program, a basic and an advanced program were developed, including a total of 40 different simulated procedures divided into 12 sessions. CONCLUSION: Surgical simulation using 3D-printing technology can be an extremely valuable tool to improve surgical training in congenital heart disease. Our pilot study can represent the first step towards the creation of an integrated training system on 3D-printed models of congenital and acquired heart diseases in other Italian residency programs.

[Surgical results of tetralogy of Fallot repair with pulmonary valve preservation techniques]. / Risultati del trattamento chirurgico della tetralogia di Fallot con tecniche di preservazione della valvola polmonare.

BACKGROUND: The long-term complications arising from chronic pulmonary insufficiency after surgical correction of tetralogy of Fallot (TOF) are well documented. In our center, innovative techniques for pulmonary valve (PV) preservation have been adopted and developed for over 10 years. METHODS: All patients with TOF and PV stenosis who underwent surgery at our center between January 2008 and December 2022 were included in this study. Patients were evaluated using echocardiography during follow-up, comparing those who underwent classic surgery with transannular patch (TAP) placement and those who underwent PV preservation techniques. RESULTS: Of the 134 patients, 99 (73.9%) were successfully treated using PV preservation techniques. At the time of surgery, the median age was 4.3 months (interquartile range [IQR] 3.4-5.9 months). The median preoperative PV z-score was -2.87 (IQR -3.61;-2.48). The median follow-up time from surgery was 6.6 years (IQR 3.5-8.4 years). During the median follow-up, the right ventricular area change fraction was 47% (IQR 43-50%) in patients treated with PV preservation and 43% (IQR 41-47%) in the TAP group (p=0.005). These data were associated with better PV function in patients treated with preservation. Specifically, insufficiency was mild in 12%, moderate in 35%, and severe in 53% of patients in the TAP group. Conversely, insufficiency was mild in 53%, moderate in 35%, and severe in 11% of patients treated with preservation (p<0.001). CONCLUSIONS: Annular integrity and PV function can be preserved during early TOF correction. PV preservation can prevent the long-term development of pulmonary insufficiency and right ventricular dysfunction.

Outcomes of Neonatal Cardiac Surgery: A European Congenital Heart Surgeons Association Study.

BACKGROUND: We evaluated outcomes of neonatal cardiac surgery at hospitals affiliated with the European Congenital Heart Surgeons Association (ECHSA). METHODS: All patients ≤30 days of life undergoing a cardiac surgical procedure during a 10-year period between January 2013 and December 2022 were selected from the ECHSA Congenital Database. Reoperations during the same hospitalization, percutaneous procedures, and noncardiac surgical procedures were excluded. We identified 12 benchmark operations. Primary outcomes were 30-day mortality and in-hospital mortality. Multivariable logistic regression analysis was performed to determine independent factors associated with higher mortality. Mortality between the first 5 years and second 5 years was also compared. RESULTS: The overall number of neonatal operations from 2013 to 2022 was 30,931, and 22,763 patients met the inclusion criteria of the study. The 4 most common procedures were arterial switch operation (3520 of 22,763 [15.5%]), aortic coarctation repair (3204 of 22,763 [14.1%]), shunt procedure (2351 of 22,763 [10.3%]), and Norwood operation (2115 of 22,763 [9.23%]). The 30-day mortality rate was as follows: overall population, 5.9% (1342 of 22,763); arterial switch, 3.13% (110 of 3520); Norwood operation, 16.0% (339 of 2115); and hybrid operation, 15.4% (94 of 609). In-hospital mortality rate was as follows: overall population, 9.1% (2074 of 22,763); arterial switch, 4.12% (145 of 3520); Norwood operation, 24.7% (523 of 2115); and hybrid operation, 30.5% (186 of 609). Multivariable analysis revealed that major factors impacting mortality were high-risk procedures (adjusted odds ratio, 2.74; 95% CI, 2.33-3.23; P < .001), and the need for extracorporeal membrane oxygenation (11.8; 95% CI, 9.9-14; P < .001). CONCLUSIONS: Neonatal cardiac surgery continues to pose a significant challenge, with notable mortality, particularly for neonates with functionally univentricular physiology. These data can serve as important benchmarks across Europe and offer insights regarding opportunities for improvement.

Preoperative Transcatheter Diagnosis of Right Atrial Hemangioma.

A 34-year-old man with unremarkable past medical history presents with night sweats and a recent diagnosis of intracardiac mass. The initial diagnostic workup did not provide a definitive diagnosis, so a cardiac biopsy under intracardiac echocardiography guidance was performed, revealing a hemangioma, which was then successfully resected. (Level of Difficulty: Advanced.).

Three-Dimensional-Enabled Surgical Planning for the Correction of Right Partial Anomalous Pulmonary Venous Return.

Objectives: The surgical technique for right partial anomalous pulmonary venous return (PAPVR) depends on the location of the anomalous pulmonary veins (PVs). With this in mind, we sought to evaluate the impact of 3D heart segmentation and reconstruction on preoperative surgical planning. Methods: A retrospective study was conducted on all patients who underwent PAPVR repair at our institution between January 2018 and October 2021; three-dimensional segmentations and reconstructions of all the heart anatomies were performed. A score (the PAPVR score) was established and calculated using two anatomical parameters (the distance between the most cranial anomalous PV and the superior rim of the sinus venosus defect/the sum of the latter and the distance between the PV and the azygos vein) to predict the type of correction. Results: A total of 30 patients were included in the study. The PAPVR score was found to be a good predictor of the type of surgery performed. A value > 0.68 was significantly associated with a Warden procedure (p < 0.001) versus single/double patch repair. Conclusions: Three-dimensional heart segmentations and reconstructions improve the quality of surgical planning in the case of PAPVR and allow for the introduction of a score that may facilitate surgical decisions on the type of repair required.

Prenatal Diagnosis and Fetopsy Validation of Complete Atrioventricular Septal Defects Using the Fetal Intelligent Navigation Echocardiography Method.

(1) Background: Artificial Intelligence (AI) is a modern tool with numerous applications in the medical field. The case series reported here aimed to investigate the diagnostic performance of the fetal intelligent navigation echocardiography (FINE) method applied for the first time in the prenatal identification of atrioventricular septal defects (AVSD). This congenital heart disease (CHD) is associated with extracardiac anomalies and chromosomal abnormalities. Therefore, an early diagnosis is essential to advise parents and make adequate treatment decisions. (2) Methods: Four fetuses diagnosed with AVSD via two-dimensional (2D) ultrasound examination in the second trimester were enrolled. In all cases, the parents chose to terminate the pregnancy. Since the diagnosis of AVSD with 2D ultrasound may be missed, one or more four-dimensional (4D) spatiotemporal image correlation (STIC) volume datasets were obtained from a four-chamber view. The manual navigation enabled by the software is time-consuming and highly operator-dependent. (3) Results: FINE was applied to these volumes and nine standard fetal echocardiographic views were generated and optimized automatically, using the assistance of the virtual intelligent sonographer (VIS). Here, 100% of the four-chamber views, and after the VISA System application the five-chamber views, of the diagnostic plane showed the atrioventricular septal defect and a common AV valve. The autopsies of the fetuses confirmed the ultrasound results. (4) Conclusions: By applying intelligent navigation technology to the STIC volume datasets, 100% of the AVSD diagnoses were detected.

Fast-track virtual reality software to facilitate 3-dimensional reconstruction in congenital heart disease.

OBJECTIVES: Two limitations of the clinical use of 3-dimensional (3D) reconstruction and virtual reality systems are the relatively high cost and the amount of experience required to use hardware and software to effectively explore medical images. We have tried to simplify the process and validate a new tool developed for this purpose with a novel software package. METHODS: Five patients with right partial anomalous pulmonary venous return with adequate preoperative images acquired with magnetic resonance imaging were enrolled. Five volunteers with no previous experience in the field of 3D reconstruction were instructed to use the software after viewing a short video tutorial. Users were then asked to create a 3D model of each patient's heart using DIVA software. Their results were compared quantitatively and qualitatively with a benchmark reconstruction performed by an experienced user. RESULTS: All our participants recreated 3D models in a relatively short time, maintaining a good overall quality (average quality score ≥ 3 on a scale of 1-5). The overall trend of all the parameters analysed showed a statistical improvement between case 1 and case 5, as users became more and more experienced. CONCLUSIONS: DIVA is a simple software program that allows accurate 3D reconstruction in a relatively short time ("fast-track" virtual reality). In this study, we demonstrated the potential use of DIVA by inexperienced users, with a significant improvement in quality and time after a few cases were performed. Further studies are needed to confirm the potential application of this technology on a larger scale.

A Rodent Model of The Ross Operation: Syngeneic Pulmonary Artery Graft Implantation in A Systemic Position.

The Ross operation for aortic valve disease has regained new interest due to its outstanding long-term results. Nonetheless, when employed as freestanding root replacement, the possible dilation of the pulmonary autograft and subsequent aortic regurgitation is described. Several animal models have been proposed. However, these are usually limited to ex-vivo models or in-vivo experiments with relatively expensive large animal models. In this study, we sought to establish a rodent model of pulmonary artery graft (PAG) implantation in a systemic position. A total of 39 adult Lewis rats were included. Immediately after euthanasia, the pulmonary root was harvested from a donor animal (n=17). Syngeneic recipient (n=17) and sham-operated (n=5) rats were sedated and ventilated. In the recipient group, the PAG was implanted with an end-to-end anastomosis in infra-renal abdominal aortic position. Sham-operated rats underwent only transection and re-anastomosis of the aorta. Animals were followed with serial ultrasound studies for two months and post-mortem histological analysis. The median PAG diameter in the native position was 3.20 mm (IQR=3.18-3.23). At follow-up, the median diameter of the PAG was 4.03 mm (IQR=3.74-4.13) at 1 week, 4.07 mm (IQR=3.80-4.28) at 1 month, and 4.27 mm (IQR=3.90-4.35) at 2 months (p<0.01). Peak systolic velocity was 220.07 mm/s (IQR=210.43-246.41) at 1 week, 430.88 mm/s (IQR=375.28-495.56) at 1 month, and 373.68 mm/s (IQR=305.78-429.81) at 2 months (p=0.02) and did not differ from the sham-operated group at the end of the experiment (p=0.5). Histological analysis did not show any sign of endothelial thrombosis. This study showed that rodent models may allow for the evaluation of the long-term adaptation of the pulmonary root to a high-pressure system. A systemically placed syngeneic PAG implantation represents a simple and feasible platform for the development and evaluation of novel surgical techniques and drug therapies to further improve the outcomes of the Ross operation.

Pulmonary valve preservation during tetralogy of Fallot repair: midterm functional outcomes and risk factors for pulmonary regurgitation.

OBJECTIVES: Many centres have recently adopted pulmonary valve (PV) preservation (PVP) during tetralogy of Fallot (ToF) repair. We sought to identify the midterm functional outcomes and risk factors for pulmonary regurgitation after this procedure. METHODS: All patients undergoing PVP during transatrial-transpulmonary repair for ToF with PV stenosis at our institution between January 2007 and December 2020 were reviewed. RESULTS: Overall, 73 patients were included. At the index surgery, the body surface area was 0.31 ± 0.04 m2, the age was 4.9 ± 2.9 months and the preoperative PV z-score was -3.02 ± 1.11. At a mean follow-up of 5.3 ± 2.7 years, the fractional area change of the right ventricle (RV) was 47.1 ± 5.2%, and the tricuspid annular plane systolic excursion z-score was -3.31 ± 1.89%. The 5-year freedom from moderate/severe PV regurgitation was 61.3% [95% confidence interval (CI): 48, 73%]. There was a significant correlation between RV function and moderate/severe PR at follow-up (R2: 0.08; P = 0.03). A comparison with a group of patients undergoing a transannular patch procedure (N = 33) showed superior outcomes for patients with PVP. The preoperative PV z-score and the degree of PR at discharge were risk factors for the early development of moderate/severe PR at follow-up [hazard ratio (HR): 0.64; 95% CI: 0.48, 0.86, P = 0.01 and HR: 2.31; 95% CI: 1.00, 5.36, P = 0.04, respectively]. A preoperative PV annulus z-score ≤ -2.85 was found to be predictive for moderate/severe PR at 5 years after PVP (HR: 2.56; 95% CI: 1.31, 5.01, P = 0.002). CONCLUSIONS: A pulmonary valve preservation strategy during tetralogy of Fallot repair should always be attempted. However, a preoperative PV annulus z-score < -2.85 and moderate/severe regurgitation upon discharge are risk factors for midterm pulmonary regurgitation.

Mechanical and Structural Adaptation of the Pulmonary Root after Ross Operation in a Murine Model.

Background: The major limitation to the Ross operation is a progressive autograft dilation, possibly leading to reoperations. A murine model was created to evaluate pulmonary artery graft (PAG) adaptation to pressure overload. Methods: Lewis rats (n = 17) underwent heterotopic surgical implantation of a PAG, harvested from syngeneic animals (n = 17). A group of sham animals (n = 7) was used as a control. Seriated ultrasound studies of the PAG were performed. Animals were sacrificed at 1 week (n = 5) or 2 months (n = 15) and the PAG underwent mechanical and histopathological analyses. Results: Echography showed an initial increase in diameter (p < 0.001) and a decrease in peak systolic velocity (PSV). Subsequently, despite no change in diameter, an increase in PSV was observed (p < 0.01). After 1 week, the stiffness of the PAG and the aorta were similar, while at 2 months, the PAG appeared more rigid (p < 0.05). PAG's histological analysis at 2 months revealed intimal hyperplasia development. The tunica media showed focal thinning of the elastic lamellae and normally distributed smooth muscle cells. Conclusions: We demonstrated a stiffening of the PAG wall after its implantation in systemic position; the development of intimal hyperplasia and the thinning of the elastic lamellae could be the possible underlying mechanism.

Three-Dimensional Printing of Fetal Heart With d-Transposition of the Great Arteries From Ultrasound Imaging Data.

We reconstructed and printed a 3D model of the fetal heart affected by d-transposition of the great arteries from prenatal ultrasound images. Our 3D model revealed to be very helpful in showing the basic anatomical features of fetal complex Congenital Heart Disease (CHD) and represents an interesting additional diagnostic tool to the current standard imaging armamentarium, improving the quality of prenatal parental counseling.

Surgery for Adult Patients with Congenital Heart Disease: Results from the European Database.

Adults with congenital heart disease (ACHD) represent a growing population. To evaluate frequency, type and outcomes of cardiac surgery in ACHD, we gathered data from the European Congenital Heart Surgeons Association Database of 20,602 adult patients (≥18 years) with a diagnosis of congenital heart disease who underwent cardiac surgery, between January 1997 and December 2017. We demonstrated that overall surgical workload (as absolute frequencies of surgical procedures per year) for this specific subset of patients increased steadily during the study period. The most common procedural groups included septal defects repair (n = 5740, 28%), right-heart lesions repair (n = 5542, 27%) and left-heart lesions repair (n = 4566, 22%); almost one-third of the procedures were re-operations (n = 5509, 27%). When considering the year-by-year relative frequencies of the main procedural groups, we observed a variation of the surgical scenario during the last two decades, characterized by a significant increase over time for right and left-heart lesions repair (p < 0.0001, both); while a significant decrease was seen for septal defects repair (p < 0.0001) and transplant (p = 0.03). Overall hospital mortality was 3% (n = 622/20,602 patients) and was stable over time. An inverse relationship between mortality and the number of patients operated in each center (p < 0.0001) was observed.