Tetralogy Of Fallot Research Articles

Surgical results of tetralogy of Fallot repair with pulmonary valve preservation techniques

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. 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. 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). 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.

Total intravenous anesthesia in a dog with Tetralogy of Fallot undergoing cystotomy

Total intravenous anesthesia in a dog with Tetralogy of Fallot undergoing cystotomy

The ventricular septal defect in tetralogy of Fallot: A multi-centre morphological and statistical shape analysis study

Abstract Background Ventricular septal defects (VSDs) in Tetralogy of Fallot (TOF) are often thought to be ‘large and unrestricted’ but experience suggests they have a more heterogenous morphology. Understanding the morphological variations and dimensions is the first step in modifying surgical closure or optimising potential device design. Purpose The objective of this study was to perform a comprehensive multi-center morphological analysis of the characteristics of the VSD in TOF. Additionally, we sought to perform a preliminary 2D shape analysis and principal component analysis (PCA) on standardised photos of the VSDs. Through this multi-dimensional approach, we aim to elucidate the morphological variations and structural characteristics of the VSD in TOF as a basis for future 3D shape analysis. Methods Of 495 specimens analysed, 460 were included in the morphological analysis. Standardised protocol was applied to assess the characteristics of the VSD: basic measurements of the height, width, inferior limb, and length of the inferior fibrous rim (if perimembranous) were taken and indexed to ventricular length. The degree of aortic override and presence of aorto-mitral continuity were also documented with double outlet right ventricle (DORV) being defined as more than 50% of aorta supported by the right ventricle. Statistical analysis was performed to assess variations in TOF morphology across different age groups and disease phenotypes. Standardised photographs of 130 VSDs were taken from the right ventricle and traced for PCA, in order to assess shape variations among the VSDs. Results Both the length of the inferior limb of the PM VSD and the length of the fibrous rim increased with ventricular length but the rate of change was lower for the fibrous rim. A chi-square analysis comparing the presence of double outlet right ventricle and the presence of a fibrous continuity between the aortic and mitral valves showed no association between these features (p = 0.89). The results of PCA in the indexed datasets showed that the largest variation was in the size of the VSD and then from the shape of the VSD where two distinct morphologies emerged: a classic V-shaped VSD and wide but shallow variant. Discussion Our study challenges conventional definitions and assumptions regarding the morphological characteristics of the VSD in TOF and suggests that components may change size at differing rates. Our study conclusively shows that DORV and TOF can co-exist and the definition of DORV should be made independently of the presence of aorto-mitral continuity. Contrary to the traditional view of TOF featuring large unrestricted VSDs, our findings suggest wide shallow VSDs are common. These findings challenge paradigms and underscore a necessity for the continuing morphological re-evaluation of TOF utilising large datasets with a diverse phenotypic spread.

Different microRNA expression in the right ventricular outflow tract myocardium of tetralogy of Fallot

Abstract Background When repairing tetralogy of Fallot (TOF), there are two surgical options according to the size of the pulmonary valve: transannular patch repair and valve-preserving repair. Since the development of the pulmonary valve depends on the degree of obstruction of the right ventricular outflow tract (RVOT), molecular profiles of the RVOT muscles may be associated with the surgical decision. As a recent study shows altered microRNA expression of the right ventricular myocardium even in TOF patients, microRNA expression of the RVOT infundibular muscle may be different between the two procedures. Purpose To evaluate differences in microRNA expression levels of RVOT infundibular muscles between the transannular patch repair and valve-preserving repair groups. Methods Surgically resected infundibular muscles from TOF patients are frozen in liquid nitrogen and stored in our hospital biobank. Nine samples collected between August 2020 and July 2022 were used in this study. Five patients underwent a valve-preserving repair and the others underwent a transannular patch repair. Six patients were female and mean age at operation was 453 ± 240 days. These samples were homogenized and total RNA including microRNAs were extracted. MicroRNA expression levels were measured using a microRNA array capable of detecting over 2000 microRNAs simultaneously. Results 1171 microRNAs were detected in all nine samples. The expression levels of 22 microRNAs were significantly different between the transannular patch repair group and the valve-preserving repair group (P&amp;lt;0.05). The expression levels of 19 microRNAs were significantly higher in the transannular patch repair group and the others were significantly higher in the valve-preserving repair group. More than 2-fold changes were observed in 2 microRNAs between the transannular patch repair and valve-preserving repair groups. Conclusion MicroRNA expression of RVOT infundibular muscle differs between the transannular patch repair and valve-preserving repair groups. Therefore, microRNA analysis will be useful to evaluate the pathophysiology of TOF. In addition, microRNAs may become a useful biomarker for surgical decision making in TOF.

High prevalence of coronary artery calcium and aortic calcification in adults with repaired coarctation of the aorta and interrupted aortic arch

Abstract Background There is a high rate of late cardiovascular mortality in patients with repaired coarctation of the aorta (CoA) and interrupted aortic arch (IAA). Coronary artery calcium (CAC) is a marker of cardiovascular disease and there is growing evidence for aortic calcification as a predictor. Recent research in the general population suggests any CAC in males &amp;lt;35 years old and females ≤45 years places them at ≥90th percentile. Aims We aimed (1) to determine the prevalence of CAC, thoracic aorta calcification (TAC), and abdominal aorta calcification (AAC) in patients with CoA or IAA repair, and (2) to compare patients to a control group of Tetralogy of Fallot (TOF) patients, a condition with no known increased risk of atherosclerotic cardiovascular disease. Methods Retrospective cohort study of adult survivors of CoA/IAA repair followed up at an adult congenital heart disease (ACHD) clinic. Patients with at least 1 chest, abdomen, or pelvis computerised tomography (CT) scan for any indication were included. The presence/absence of calcification in the coronary arteries or aorta was assessed qualitatively. Patients on antihypertensive and statin therapy were considered hypertensive and hypercholesterolaemic, respectively. Patients were compared to adult survivors of TOF repair with CT scans for any indication (controls). Results Ninety-three CoA/IAA patients (87% CoA/13% IAA, median age at latest follow-up 34 years) had a total of 169 chest and 37 abdomen/pelvis CTs; 82, 93, and 37 patients had at least 1 CT suitable for CAC, TAC, and AAC review, respectively. CAC was present in 22% (18/82), TAC in 33% (31/93), and AAC in 23% (5/22) of CoA/IAA patients. CAC was present in 12% (18/153) and TAC in 11% (18/158) of TOF patients. CoA/IAA patients were more likely to have CAC and TAC than TOF patients (p=0.04 and p&amp;lt;0.0001; respectively) and be younger at the time of diagnosis (CAC p=0.03, TAC p=0.0001) despite TOF patients being older at time of latest CT scan (p=0.0003) (Table 1). Males aged &amp;lt;35 years and females ≤45 years represented 44% (8/18) of CoA/IAA patients with CAC. CoA/IAA patients with CAC were more likely to be hypertensive and hypercholesterolaemic than those without (78% [14/18] vs 48% [31/64], p=0.03; and 28% [5/18] vs 0% [0/64], p&amp;lt;0.0001; respectively) and was similar for TAC (hypertension p=0.005, hypercholesterolaemia p=0.04) but not AAC. After a mean follow-up of 11±7 years from first ACHD clinic, of the 93 patients, 2 patients died, 5 had coronary artery disease (at least mild stenosis on invasive angiography), 3 had a stroke, and 70% (65/93) were considered hypertensive at latest follow-up. Conclusions There is a high prevalence of CAC, aortic calcification, and hypertension in young adults with repaired CoA/IAA. Coronary and thoracic aortic calcification occurs at a younger age compared to controls. Further studies are warranted to assess the impact of aggressive cardiovascular risk reduction in this high-risk group.

Interaction between right atrial function reserve and liver stiffness after complete repair of tetralogy of fallot: a pilot study

Abstract Background Impaired right atrial mechanics is reported in patients with repaired tetralogy of Fallot (TOF) and is associated with liver stiffness. However, whether right atrial functional reserve correlates with liver stiffness is unknown. Purpose This study tested the hypothesis that right atrial reserve capacity is limited in patients with repaired TOF and explore its relationships with right ventricular function and liver stiffness. Methods 10 patients (45% male) aged 19.04 ± 3.76 at 16.70 ± 4.30 years after repair and 15 controls (60% male, aged 20.31 ± 1.25 years) were studied. RA mechanics was assessed by speckle-tracking echocardiography (STE) at rest and during bicycle exercise, with quantification of positive, negative, and total strain, and strain rates at ventricular systole (aSRs), early diastole (aSRed), and atrial contraction (aSRac). Right atrial function reserve (RAFR) is calculated as (∆RA total strain x [1-1/ RA total strain at baseline]). RV systolic and diastolic function was quantified using Doppler interrogation and STE. Hepatic shear wave velocity (c) and tissue elasticity (E) were measured using two-dimensional shear wave elastography. Results At rest, patients had significantly lower RA positive, negative and total strain, aSRs and aSRed than control subjects (all P&amp;lt;0.02). Shear wave velocity and hepatic E value were significantly higher in patients than controls (both P&amp;lt;0.02). Compared with controls, patients had significantly lower RA positive, negative and total strain, aSRs, aSRed, and aSRac at exercise (all P&amp;lt;0.05). No significant difference in hepatic shear wave velocity and tissue elasticity were found between patients and control subjects at exercise (all P&amp;gt;0.05). Both baseline liver stiffness indices correlated negatively with RAFR, RA positive and total strain and aSRed at exercise (p&amp;lt;0.05 for all). RV function parameters, including baseline trans-tricuspid early and late diastolic inflow velocity (E, A), systolic, early and late diastolic tricuspid annular velocity (s, e, a), isovolumetric acceleration (IVA), RV systolic and diastolic reserve correlated significantly with RA positive and total strain at exercise (P&amp;lt;0.05 for all). Conclusions In young adults with repaired TOF, right atrial function reserve is impaired, and is associated with increased liver stiffness and RV dysfunction.RA mechanics from rest to exerciseStress RA mechanics and liver stiffness

Short-term mechanical circulatory support in adults with congenital heart disease: indications and outcomes

Abstract Background An increasing number of adults with congenital heart disease (ACHD) present with heart failure (HF), which may require short- or long-term mechanical circulatory support (MCS), often around cardiac surgery or other interventions. Even though MCS has entered ACHD practice over the last few years, little is known on its indications and outcomes in this population. Purpose To assess the use and outcomes of short-term MCS in ACHD patients in a specialist centre, and assess the predictive power of the Survival After Veno-Arterial Extracorporeal Membrane Oxygenation (SAVE) score in this population. Methods Data on all ACHD patients who received MCS since 2008 in a single tertiary centre were collected. Immediate, short and longer-term outcomes were also collected, including death, complications, and weaning success. Logistic regression and ROC analysis were performed to identify predictors of in-hospital mortality. Result There were 65 episodes of MCS in 63 patients during the study period: age 36.9+-13.6 years, 61.5% male. Most patients had CHD of moderate or severe complexity (49.2% moderate and 10.8% severe according to ESC guidelines). The most common anatomical diagnoses were left outflow tract obstruction in 35.4%, Marfan syndrome in 20.0% and tetralogy of Fallot or pulmonary atresia in 10.8%. The most common indications for ECMO were perioperative support (not endocarditis) in 55.6%, HF in 14.3%, pneumonia in 12.7% and endocarditis-related surgery in 7.9%. A critical preoperative status was present in 26.8%; median PEACH score (a validated ACHD peri-operative risk score) was 1.0[1.0-3.0] and ACHS score was 0.6[0.6-1.0]. Median SAVE score was -4.0[-9.0–2.0], with 21(43.8%) in SAVE class 4 or 5. VA-ECMO was used in 69.2%, VV-ECMO in 21.5%, BiVAD-ECMO in 4.6% and RVAD support in 4.6% of patients. The median duration of ECMO support was 198.6[133.0-354.2] hours. Complications included ischemic stroke (15.4%), intracerebral bleeding (9.2%), and other thromboembolism (23.8%). Successful weaning was achieved in 56.2%, whereas 4.6% were switched to more definitive MCS. In-hospital mortality was 47.7%, and this was higher in patients receiving VA support (OR 4.92, 95%CI:1.32-23.93, p=0.03). For patients on VA-ECMO or BiVAD support, the presence of Marfan syndrome (OR 4.92, 95%CI:1.32-23.93, p=0.03) and a lower (worse) SAVE score (OR 1.3 per point reduction, 95%CI:1.11-1.59, p=0.004) were associated with in-hospital mortality. An adjusted SAVE score that accounted for the presence of heritable thoracic aortic diseases (HTAD, -3 points) performed well at predicting in-hospital mortality (AUC increasing from 0.73 to 0.8, Figure). Conclusions Short-term MCS is a useful temporary rescue intervention in patients with ACHD, as a bridge to recovery or durable support, with 1 in 2 patients surviving to hospital discharge. The SAVE score adjusted for HTAD can reliably predict outcomes in patients with VA-ECMO and requires external validation.Figure

The impact of tricuspid regurgitation on the timing of pulmonary valve replacement in adult patients after Tetralogy of Fallot repair

Abstract Background Tricuspid regurgitation (TR) in patients with repaired tetralogy of Fallot (rTOF) is an important finding with a wide spectrum of etiologies. TR represents an important risk factor in adult patients with rTOF, influencing clinical outcomes and the requirement for additional surgical interventions. In this study, we reviewed the long-term outcomes of TR in ACHD patients with rTOF as well as its impact on the timing of surgical pulmonary valve replacement (PVR). Methods This was a retrospective analysis of a single institutional cohort which included 149 ACHD patients with a history of rTOF (transannular patch only) with CMR data, complete follow-up, and a recent (&amp;lt; 1 year) outpatient clinic visit. Results Overall follow-up time was 25.5 years (95% CI 24.5,26.4). Between 2002 and 2021, 93 patients required isolated PVR at a mean time from TOF repair of 16.6 years (95% CI 15.5,17.7) and at a mean age of 17.9 years (95% CI 16.8,19.0). In the whole cohort, significant TR was associated with a two-fold increase in the likelihood of requiring PVR (log-rank p = 0-.0023, HR 2.02; 1.09-4-47). Moderate to severe TR was more frequent in those who underwent VSD closure through a right atriotomy (17 versus 0, p = .0002) and affected time to PVR (13.9 versus 16.3 years, p = .0071), with equal preoperative RVEDVi at CMR. After PVR, RVEDVi normalized in all patients, regardless of the preoperative amount of TR (median 115.3 ml/m2 versus 112.3 ml/m2, p = .7). At a median time of 6.5 years from PVR, 13 patients (13/93, 14%) underwent redo PVR. Conclusions The preoperative severity of tricuspid regurgitation (TR) may have a substantial role on the likelihood of patients needing PVR at a younger age. This, in turn, could result in a reduced duration of freedom from valve failure. Replacing the pulmonary valve too early can effectively increase the lifetime number of procedures, preserving the function of the tricuspid valve at the time of TOF repair is of paramount importance.

A cohort study examining predictors of stroke and bleeding among people with congenital heart disease and atrial fibrillation

Abstract Background Congenital Heart Disease (CHD) is associated with development of atrial fibrillation (AF) at an early age. With increased survival of this cohort into adulthood, the prevalence of concurrent CHD and AF is expected to increase over the next several decades. Little is known about the utility of clinical risk factors or prediction models in determining bleeding or stroke rates in adults with CHD and AF. Purpose This study aims to measure the performance of the CHADSVASC and HASBLED scores in a cohort of people with CHD. The association between traditional stroke and bleeding risk factors, as well as CHD-specific factors, will be quantified. Methods Patients age 18 or older attending one of three centers in the USA were included in this study if they had a history of AF on ECG, holter monitor or device interrogation, in addition to a diagnosis of Tetralogy of Fallot (TOF), Double Outlet Right Ventricle (DORV), or Pulmonary Atresia with Intact Ventricular Septum (PA-IVS). Outcomes were major bleeding event, and stroke rate. Analysis was conducted using cox univariable regression controlling for current age. Receiver operator curve and c-statistics were produced for the CHADSVASC and HASBLED scores respectively. Results 326 people were included in this study, of whom 161 (49.5%) had TOF secondary to Pulmonic Stenosis, 126 (38.8%) had TOF secondary to Pulmonary Atresia, 25 (7.7%) had DORV, and 155 (47.7%) had PA-IVS. 227 people used warfarin (79.4%), 28 (9.8%) used apixaban, 9 (3.1%) used Rivaroxaban, 3 (1%) used Edoxaban, and 5 (1.7%) used Enoxaparin for a period of at least 30 days during the study. 13 (4.5%) people didn’t receive anticoagulation during the study. 26 people had a stroke (8.8%) while 85 people (28.6%) had a major bleeding event. Only the CHADSVASC score was significantly associated with stroke rates (HR 2.103, 95% CI 1.555 to 2.844, p&amp;lt;0.001). Clinical variables, such as subtype of CHD, prior conduit placement or unifocalization were not associated with stroke or major bleeding events. C-statistic for the CHADSVASC score in predicting stroke events was 0.755 (Figure 1). C-statistic for the HASBLED score in predicting major bleeding was 0.442 (Figure 2). Conclusions Among people with CHD and AF, the CHADSVASC score can robustly predict stroke events. Other clinical variables are less valuable in predicting either bleeding or strokes. The HASBLED score likely doesn’t have a role in predicting major bleeding episodes in this cohort.

Blood biomarkers to detect functional impairment in adult patients with repaired Tetralogy of Fallot

Abstract Background The relationship between plasma brain natriuretic peptide (NT-proBNP) and soluble suppression of tumorigenicity-2 (sST2) with structural adaptions and exercise capacity remains incompletely described in patients with repaired Tetralogy of Fallot (rTOF). Methods Peripheral venous blood samples were drawn for 99 patients with repaired TOF, 59 patients with severe pulmonary regurgitation (PR) and 40 patients with no or mild PR. NT-proBNP was measured using enzyme-linked immunosorbent assays (Roche Diagnostics, Indianapolis, IN). Soluble ST2 levels were assessed on Aspect-plus ST2 quantitative rapid test. Results The mean value of NT-proBNP was 160±137 pg/ml, and sST2 was 29±13, ng/ml in the entire population. Mean NT-proBNP was significantly higher in patients with severe PR (169±150 vs145±118, pg/ml, p&amp;lt;0.001), while similar sST2 levels were observed in both groups (29±14 vs30±12, ng/ml, p&amp;gt;0.05). NT-proBNP and sST2 levels were higher in patients with transannular patch when compared to other RVOT intervention. Both biomarkers were significantly associated with exercise capacity, but NT-proBNP (r=-.60, p&amp;lt;0.001) was stronger. The optimal cut-off of 90pg/ml for NT-proBNP had a sensitivity of 74% and specificity of 63% for detection of impaired exercise capacity. Conclusions Serum levels of sST2 and NT-proBNP are elevated in patients with repaired TOF, with higher values observed in those with severe PR, but also in patients undergoing transannular patch. Incorporating both markers in these patients increased the ability to detect impairment in exercise capacity.

Global research landscape on the genetics of congenital heart disease: A bibliometric and visualized analysis via VOSviewer and CiteSpace.

Genetic factors play a significant role in the development of congenital heart disease (CHD). Many studies on the genetics of CHD have been published worldwide; however, no research has assessed and mapped the global research landscape of these studies. This bibliometric and visualized study aimed to delineate research hotspots and trends in the field of CHD genetics. Scientific papers on the genetics of CHD from January 1, 1950, to December 31, 2023, were obtained by searching the Web of Science Core Collection. The bibliometric metadata of each chosen research paper were extracted, analyzed, and visualized using tools such as Microsoft Excel 2021, VOSviewer, and CiteSpace. The final analysis included 5317 papers discussing the genetics of CHD. The countries and journals that published the highest number of papers were the United States (n = 2118), and American Journal of Medical Genetics Part A (n = 332), respectively. In addition to CHD and genetics, keywords such as tetralogy of Fallot, ventricular septal defect, and atrial septal defect appeared most frequently among 8365 keywords. Eight clusters were formed to categorize the keywords. Keywords such as case-control study, whole genome sequencing, and whole exome sequencing in clusters 6, 7, and 8, respectively, had the latest average publication year among all clusters. To the best of our knowledge, this is the first bibliometric analysis of CHD genetics studies. Tetralogy of Fallot, ventricular septal defect, and atrial septal defect are global research topics. The interactions between environmental and genetic factors in the pathogenesis of CHD, genetic etiology of CHD-associated pulmonary arterial hypertension, and molecular genetics of CHD via high-throughput genomic technology are possible areas of future research on the genetics of CHD.

Higher left ventricular stroke volume is associated with aortic dilatation in repaired tetralogy of Fallot patients.

Aortic root dilation has been reported commonly after repair of tetralogy of Fallot. However, the rate and risk factors of progression of the dilation are not fully understood. This is a single-centre, retrospective study to assess the rate and factors associated with progressive dilatation of the aortic root in repaired tetralogy of Fallot patients using cardiac MRI. The presence of the significant aortic dilation and the progression of dilation between initial and follow-up cardiac MRI were examined. The study cohort comprised 72 patients with repaired tetralogy of Fallot. The median age at the initial cardiac MRI scan was 19.6 (interquartile range: 14.6-31) years, and the median follow-up interval was 4.3 (2.9-5.7) years. Median dimension of ascending aorta at initial and follow-up cardiac MRI was 27.0 (22.3-31.0) mm and 29.2 (25.0-32.1) mm, respectively. Significant aortic dilation (the percentage predicted ascending aorta ≥150%) was observed in 11 (15.2%) patients at the initial cardiac MRI and 24 (33.3%) at the follow-up cardiac MRI. The significant aortic dilation at follow-up cardiac MRI was associated with increased indexed left ventricular stroke volume (odds ratio 1.062, p = 0.023). Thirteen patients demonstrated the significant progressive dilation of aorta between initial and follow-up cardiac MRI. The progressive dilation was associated with left ventricular ejection fraction at initial cardiac MRI (odds ratio 1.135, p = 0.048). In patients with repaired tetralogy of Fallot, aortic dilation is common and progresses over time. Cardiac MRI is a valuable tool for identifying individuals at risk for progressive aortic dilation.

The Role of Collaboration in Prenatal Congenital Heart Disease Diagnosis: A Comparison of Maternal-Fetal Medicine Specialist and Pediatric Cardiologist Performance.

This study compared the accuracy of prenatal congenital heart disease (CHD) diagnosed by maternal-fetal medicine specialists (MFMs) and pediatric cardiologists (PCs), using postnatal cardiac findings as the reference standard. This retrospective analysis at Siriraj Hospital, Bangkok, Thailand, involved 125 pregnancies with fetal CHD diagnosed by MFMs and evaluated by PCs later. Prenatal CHD diagnoses by either MFM or PC were compared with postnatal diagnoses obtained through echocardiography, cardiac surgery/catheterization, or autopsy. Diagnostic accuracy was classified as (A) correct diagnosis, (B) minor differences not impacting clinical management or outcomes, or (C) major differences affecting prognosis or treatment. Cardiac sonography by MFM achieved diagnostic accuracies of 73.6% (A), 16% (B), and 10.4% (C), while fetal echocardiography by PC resulted in accuracies of 72% (A), 20% (B), and 8% (C). No statistically significant differences were found between MFM and PC in each category (P = .375-.832). The MFMs' accuracy was highest for tetralogy of Fallot (94.4%; 95% CI, 72.7-99.9%) and lowest for right atrial isomerism (71.4%; 95% CI, 29-96.3%) and pulmonary atresia with ventricular septal defect (57.1%; 95% CI, 18.4-90.1%). MFMs and PCs demonstrated high and comparable accuracy in prenatal CHD diagnosis. Although PCs tended to outperform MFMs in cases where misdiagnosis could significantly impact neonatal care and outcomes, MFMs can effectively perform primary screening for fetal CHD in all pregnancies. Collaboration with PCs remains essential when fetal CHD is suspected, particularly in complex cases.

A 3D Statistical Shape Model of the Right Ventricular Outflow Tract in Pulmonary Valve Replacement Patients Post-Surgical Repair.

Assessment of the right ventricular outflow tract and pulmonary arteries (RVOT) for percutaneous pulmonary valve implantation (PPVI) uses discrete measurements (diameters and lengths) from medical images. This multi-centre study identified the 3D RVOT shape features prevalent in patients late after surgical repair of congenital heart disease (CHD). A 3D RVOT statistical shape model (SSM) was computed from 81 retrospectively selected CHD patients (14.7 ± 6.8 years) who required pulmonary valve replacement late after surgical repair. A principal component analysis identified prevalent shape features (modes) within the population which were compared with standard geometric measurements (diameter, length and surface area) and between sub-groups of diagnosis, RVOT type and dysfunction. Shape mode 1 and 2 represented RVOT size and curvature and tapering and length, respectively. Shape modes 3-5 related to branch pulmonary artery calibre, conical vs. bulbous RVOTs and RVOT curvature, respectively. Tetralogy of Fallot, transannular patch type and regurgitant RVOTs were larger and straighter while conduit and stenotic types were longer and more cylindrical than other subgroups. This SSM analysed the main 3D shape features present in a population of RVOTs, exploiting the wide 3D anatomical information provided by routine imaging. This morphological information may have implications for PPVI patient selection and device design.

Frequency and pattern of adult congenital heart disease in a tertiary care cardiac hospital: reasons associated with delayed diagnosis

Objective: To determine the distribution pattern and possible reasons of delayed diagnosis of congenital heart disease in adult population. Method: The analytical, cross-sectional study was conducted at the Department of Paediatric Cardiology, National Institute of Cardiovascular Diseases, Karachi, from July to December 2021, and comprised patients of either gender aged 18 years and above with congenital heart disease confirmed by echocardiographic examination. Age, gender, weight, height, provincial affiliation, marital status, number of children, if any, duration of disease and New York Heart Association classification were noted on a predesigned proforma. Patterns of congenital heart disease types and reasons behind delayed diagnosis, if noted, were recorded. Data was analysed using SPSS 26. Results: Of the 129 patients, 68(52.7%) were males. The overall mean age was 25.8±9.8 years. Mean age at the time of diagnosis was 12.4±14.8 years. There were 91(70.5%) cases with delayed diagnosis. There was no significant gender difference with respect to delayed diagnosis (p&gt;0.05). Delayed referral 39(42.9%), delayed consultation 22(24.2%), delayed diagnosis by the doctor 21(23.1%), and social factors 9(9.9%) were the most frequent reasons behind delayed diagnosis. Ventricular septal defect was the most frequently defect 38(29.5%), followed by tetralogy of fallot 32(24.8%). Right ventricular dysfunction was the most common complication of delayed diagnosis 35(27.1%). Conclusion: Delayed diagnosis of congenital heart disease was reported in over two-thirds of the cases, with ventricular septal defect being the most frequent type of defect, and delayed referral being the most common reason. Key Words: Congenital heart disease, Diagnosis, Echocardiography, Tetralogy of fallot, Ventricular septal defect.

Patient-Reported Outcomes Among Adults With Congenital Heart Disease in the Congenital Heart Initiative Registry

In the US, there are more than 1.5 million adults living with congenital heart disease (CHD). The Congenital Heart Initiative (CHI) is a digital, online, patient-empowered registry that was created to advance multicenter research and improve clinical care by gathering patient-reported outcomes (PROs) in adults with CHD. To report the initial findings of the PROs for adults with CHD from the first 3 years of the CHI. The CHI was launched nationally on December 7, 2020, as an observational cohort (survey) study. Data were collected virtually through December 31, 2023, and stored on Health Insurance Portability and Accountability Act-compliant cloud-based servers with restricted access. Adults with CHD were recruited through email, social media, general advertising through advocacy organizations, and targeted outreach (telephone and in-clinic recruitment) by clinical centers. Demographics and validated survey tools on quality of life, mental health, physical activity, and health care utilization were collected at baseline and every 4 months. Descriptive statistics were used to understand the associations between various factors, including the complexity of heart defects, physical activity levels, mental health comorbidities, and socioeconomic and health care access variables. All categorical variables were analyzed using χ2 or Fischer exact test as appropriate. By December 31, 2023, the CHI had enrolled 4558 participants (2530 female [56%]) with a mean (SD) age of 38.5 (13.9) years, representing all 50 states. Approximately 88% of participants (3998 participants) completed at least 1 electronic visit as of December 31, 2023. The most prevalent CHD anatomy included tetralogy of Fallot (883 participants [22%]), transposition of great arteries (452 participants [11%]), and coarctation of the aorta (429 participants [11%]). Approximately 88% of participants (3998 participants) reported at least 1 comorbidity, with arrhythmia (1300 participants [33%]) as the most common cardiac comorbidity and mood disorder (1326 participants [35%]) as the most common noncardiac comorbidity. Among female participants, 45% (1147 participants) reported having had a pregnancy, with 38% (967 participants) resulting in biological children. Participants with complex CHD were less likely than those with moderate CHD to meet recommended physical activity guidelines (χ22 = 15.9; n = 3320; P < .001), a factor that was more pronounced among female participants. Overall health-related quality of life was rated as good or better by 84% of participants who completed the quality of life PROs (2882 participants), with no difference by CHD complexity. In this cohort study of adults living with CHD, many patients reported mood disorders, but most reported good health-related quality of life. The CHI, the largest registry of adults with CHD, is poised to facilitate multicenter research with the goal of improving clinical outcomes for all adults with CHD.

Congenital Heart Defects as One of the Causes of Perinatal Mortality

Congenital malformations are one of the most common causes of infant mortality and disability in children, and congenital heart defects (CHD) occupy a leading place in the structure of all developmental anomalies. The article presents data from a retrospective analysis of charts of children who died from complex congenital heart defects and congenital heart defects in combination with multiple developmental defects. An analysis of the pathological examination cards of 102 children from 0 to 2 years old who died in maternity hospitals and children's hospitals in Bishkek was carried out. The selection of autopsy cards of children was carried out on the basis of the Republican Pathological Bureau. As a result of pathological studies, changes in the heart and lungs were revealed. At the maternity hospital stage, out of 102 children with severe congenital heart defects, 70 newborns died, which averaged 68.6%. Among congenital heart defects, heart defects with aortopulmonary shunting with pulmonary hypertension predominated — in 45 children (44%), in particular, ventricular septal defect, atrial septal defect, then ductus-dependent heart defects were diagnosed in 25 children (24.5%), which included Tetralogy of Fallot, transposition of the great vessels. 23.5% of children had multiple congenital malformations: in all cases, congenital heart disease was recorded in combination with several malformations, such as an anomaly of the musculoskeletal system with craniofacial dimorphism, anomalies of the gastrointestinal tract and urinary system, and an anomaly of the lungs. The most common association of congenital heart disease with defects of other organs and systems was observed in cases of ventricular septal defect, atrial septal defect, patent ductus arteriosus.

Role of BT shunt in tetralogy of Fallot.

Modified Blalock-Taussig shunt (BT shunt) is a palliative operation used for cyanotic heart diseases with decreased pulmonary blood supply. The definitive management of tetralogy of Fallot (TOF) is total corrective surgery, but these patients can be palliated with BT shunt. In the modern world, the BT shunt is getting out of favour in patients with TOF. In this article, we will share our 5-year experience at our institute, which also shows a decreasing trend. It is a retrospective study. Files of all the patients admitted in our department from January 2019 to December 2023 were reviewed. Age, weight, hospital stay, inotropic support duration, mechanical ventilation duration, and outcomes were studied. From January 2019 to December 2023, 173 patients underwent BT shunt for TOF. The mean age was 31 months, and the mean weight was 9.3 kg. The overall mortality for BT shunt was 15% after BT shunt. Hypercyanotic spell not controlled by medical management was the most common indication for BT shunt in our setup. Most of the patients with hypercyanotic spells were also candidates for total correction but due to the emergency, BT shunt was performed. The role of BT shunt in patients with TOF is decreasing due to PDA/RVOT stenting, it is likely that the BT shunt in TOF will become a thing of the past in the future even in developing countries like ours.

Lymphatic magnetic resonance imaging abnormalities in children with repaired tetralogy of Fallot.

Tetralogy of Fallot patients face an elevated risk of developing chylothorax and pleural effusions post-surgery. This patient group exhibits risk factors known to compromise the lymphatic system, such as elevated central venous pressure, pulmonary flow changes, and hypoxia. This study investigates the morphology and function of the lymphatic system in tetralogy of Fallot patients through lymphatic magnetic resonance imaging and near-infrared fluorescence imaging, respectively. Post-repair tetralogy of Fallot patients aged 6-18 years were recruited, along with age and gender-matched controls. Magnetic resonance imaging was used to assess the morphology of the thoracic lymphatic vessels and the thoracic, while near-infrared fluorescence imaging was used to assess lymphatic activity utilising lymph rate, velocity, and pressure. Nine patients and 10 controls were included. Echocardiography revealed that 2/3 of the patients had moderate-severe pulmonary regurgitation, while none displayed signs of elevated central venous pressure. Magnetic resonance imaging identified three patients with type 3 (out of 4 types) lymphatic abnormalities, while controls had none. The thoracic ducts showed severe (one patient) and moderate (one patient) tortuosity. Mean thoracic duct diameters were 3.3 mm ±1.1 in patients and 3.0 mm ± 0.8 in controls (p-value = 0.53). Near-infrared fluorescence imaging revealed no anomalous patterns. Despite no presence of clinical lymphatic disease, 3/9 of the repaired tetralogy of Fallot patients exhibited lymphatic morphological abnormalities. The significance of these anomalies remains uncertain currently. Further research is needed to determine whether these lymphatic alterations in this patient cohort are a result of congenital malformations, haemodynamic shifts, or prenatal and early-life saturation levels.

Electrocardiogram-based deep learning to predict mortality in paediatric and adult congenital heart disease.

Robust and convenient risk stratification of patients with paediatric and adult congenital heart disease (CHD) is lacking. This study aims to address this gap with an artificial intelligence-enhanced electrocardiogram (ECG) tool across the lifespan of a large, diverse cohort with CHD. A convolutional neural network was trained (50%) and tested (50%) on ECGs obtained in cardiology clinic at the Boston Children's Hospital to detect 5-year mortality. Temporal validation on a contemporary cohort was performed. Model performance was evaluated using the area under the receiver operating characteristic and precision-recall curves. The training and test cohorts composed of 112 804 ECGs (39 784 patients; ECG age range 0-85 years; 4.9% 5-year mortality) and 112 575 ECGs (39 784 patients; ECG age range 0-92 years; 4.6% 5-year mortality from ECG), respectively. Model performance (area under the receiver operating characteristic curve 0.79, 95% confidence interval 0.77-0.81; area under the precision-recall curve 0.17, 95% confidence interval 0.15-0.19) outperformed age at ECG, QRS duration, and left ventricular ejection fraction and was similar during temporal validation. In subgroup analysis, artificial intelligence-enhanced ECG outperformed left ventricular ejection fraction across a wide range of CHD lesions. Kaplan-Meier analysis demonstrates predictive value for longer-term mortality in the overall cohort and for lesion subgroups. In the overall cohort, precordial lead QRS complexes were most salient with high-risk features including wide and low-amplitude QRS complexes. Lesion-specific high-risk features such as QRS fragmentation in tetralogy of Fallot were identified. This temporally validated model shows promise to inexpensively risk-stratify individuals with CHD across the lifespan, which may inform the timing of imaging/interventions and facilitate improved access to care.