The Great Arteries Research Articles

097. Treatment of Parapagus Dicephalus and Factors Influencing Separation Surgery of Conjoined Twins: A Case Report and Literature Review

Introduction: Cases of parapagus conjoined twins are rare. The incidence is 28% of the total conjoined twins. The lack of studies regarding the handling of complex cases of conjoined twins and the factors that form the basis for whether conjoined twin patients can undergo separation surgery is the reason for carrying out a study to look for scientific evidence for the treatment of cases of parapagus dicephalus conjoined twins. Case: A parapagus dicephalus patient presented anomalies of baby 1 with grade I intraventricular hemorrhage (IVH), transposition of the great arteries (TGA), atrial septal defect (ASD) and ventricular septal defect (VSD), and baby 2 had VSD and ASD. Continuous positive airway pressure (CPAP) was utilized to assist their breathing, and it was difficult to wean supplemental oxygen. The patient was deemed unsuitable for separation surgery and succumbed at the seventieth day of care. Conclusions: The discussed case was inoperable due to the degree of fusion of the heart type V, fusion of the sacrum, and complex thoracoabdominal anomalies.

Long-term outcome after Mustard procedure at young age: longitudinal follow-up of 40 to 48 years after surgery

Abstract Objectives To evaluate the long-term clinical outcome and quality of life up to 48 years of patients with Transposition of the Great Arteries (TGA) after Mustard procedure at young age. Primary outcome was defined as a composite endpoint of death, re-intervention, clinically relevant heart failure or arrhythmia, ischemic stroke and endocarditis. Methods Single center, longitudinal cohort study evaluating consecutive patients with TGA who underwent Mustard procedure before the age of 15 between 1973 and 1980 at our medical center, the Netherlands. Survival of all eligible patients was obtained. All eligible patients were invited for in hospital evaluation and underwent extensive cardiac and psychological evaluation every 10 years. The latest evaluation took place in 2021 and 2022. Results The original study cohort consisted of 91 consecutive patients. Cumulative survival at 48 years (95% complete) was 62% and significantly decreased compared to the general Dutch population (p<0.001). Cumulative survival at 48 years in hospital survivors was 66%. Mortality rate was 0.19 per 100 patient-years. Thirty-four patients (77%) of the eligible 44 survivors (71% male, median age at study 46 years) were included in the present study. Median follow-up since initial surgical correction was 46 (range 40-48) years. Event-free survival at 48 years was 14%. Overall, 34 patients underwent re-intervention of which 3 in the last 10 years (predominantly Baffle revision). In total, 29 patients had supraventricular tachycardia and 11 patients had ventricular tachycardia of which 8 and 4 respectively occurred in the last 10 years. Alltogether, 22 patients had symptomatic heart failure of which 9 occurred in the last 10 years. Cardiac magnetic resonance imaging (n=11) showed a median systemic right ventricular ejection fraction (sRVEF) of 35% [32-40%]. In 73% of the patients, sRVEF fraction was below 40%. Echocardiography showed a diminished sRVEF in all patients. VO2max was reduced in 95% of all patients. Self-perceived quality of life (SF-36) generally was comparable to the general Dutch population with the exception of domain general health (p<0.001). Conclusion Late mortality, and especially morbidity of hospital survivors after Mustard procedure was substantial, with an event free survival of only 14% at 48 years. Re-intervention and symptomatic arrhythmia were often reported. The function of the systemic right ventricle was diminished and VO2max was also reduced. The burden of heart failure increased drastically in the last decade. Therefore, intensive follow-up of these patients is warranted.

Right ventricular global longitudinal strain by cardiac magnetic resonance feature tracking is associated with outcome in patients with a systemic right ventricle

Abstract Introduction It is well known, that patients with a systemic (sub-aortic) right ventricle (sRV) for congenitally-corrected transposition of the great arteries (TGA) or with complete TGA after atrial switch operation are more threatened to develop RV dysfunction, relevant supra- and ventricular tachycardia and have a reduced life expectancy. While the randomized, placebo-controlled, double-blinded, multi-centre SERVE trial to investigate the effect of phosphodiesterase-5 inhibitor tadalafil in sRV patients showed negative results on the primary end-point RV endsystolic volume (RVESV), aim of this sub-analysis was to evaluate RV global longitudinal strain (GLS), a more sensitive measure of RV function, by cardiac magnetic resonance (CMR) feature tracking (FT) over time, for treatment effect and to investigate whether RV GLS predicts clinical outcome in sRV patients. Methods CMR volumetric RV and FT parameters were analysed (blinded for patient and assessment time and treatment) at baseline and compared to follow-up (FU) after 3 years, or after 1 year in case of withdrawal of the study drug. FT was performed using appropriate software. Treatment effect was analysed using ANCOVA with baseline values and FU-time as covariates. Values of > 4th quartile of RV GLS were used as cut-off for Kaplan-Meier analysis on the primary outcome, defined as a composite of all-cause death, clinically relevant arrhythmias and hospitalisation for heart failure. Results CMR exams were available for 78 patients at baseline (40±11 years, 33% females) and for 71 patients at FU. No treatment effect of tadalafil compared to the placebo was discovered for RV GLS (p=0.26), RVESVi (p=0.63) and RV ejection fraction (RVEF, p=0.6). Over a 3 years FU-time, RV GLS mildly increased (p=0.0023, figure 1). During FU, 14 patients experienced a clinical outcome: 1 death, 4 hospitalisations for heart failure, and 12 clinically relevant arrhythmic events. An RV GLS > -13.4% was associated with adverse clinical outcome (p=0.003, figure 2). Conclusion In patients with a systemic RV, treatment with Tadalafil had no effect on CMR-derived RV global longitudinal strain compared to placebo. RV GLS changed significantly over the 3 years FU-time. A RV GLS value of > -13.4% is associated with adverse clinical outcome in these patients.Figure 1Figure 2

Ventriculo-arterial coupling parameters by cardiac magnetic imaging are associated with outcome in patients with a systemic right ventricle

Abstract Introduction Invasive studies have shown that patients with a systemic right ventricle (sRV) due to congenitally corrected transposition of the great arteries (TGA) or complete TGA after atrial switch procedure possess impaired ventriculo-arterial coupling (VAC) parameters. The randomized, placebo-controlled, double-blinded, multi-centre SERVE trial investigated the effect of phosphodiesterase-5 inhibitor tadalafil in sRV patients on RV endsystolic volume (RVESV), with negative results. Aim of this sub-analysis was to evaluate changes of non-invasively assessed VAC parameters over time and for treatment effect. We prospectively analysed whether VAC parameters predict clinical outcome in sRV patients. Methods Volumetric RV parameters and aortic flow were assessed by cardiac magnetic resonance (CMR) and analysed (blinded for patient and assessment time and treatment) at baseline, after 3 years, or after 1 year if the study drug was withdrawed. Parameters were compared with clinical outcome at each visit. Effective arterial elastance Ea was calculated as RV endsystolic pressure (RVesp) / aortic forward flow, with RVesp defined as 0.9 x systolic blood pressure. Right ventricular endsystolic elastance Ees was calculated by RVesp / RVESV, and RV VA-coupling ratio was expressed as Ea/Ees. Treatment effect was analysed using ANCOVA with baseline values and FU-time as covariates. Values of > 4th quartile were used as cut-off for Kaplan-Meier analysis on the primary outcome, defined as a composite of all-cause death, clinically relevant arrhythmias and hospitalisation for heart failure. Results CMR exams were available for 78 patients at baseline (40±11 years, 33% females) and for 71 patients at follow-up (FU). No effect of tadalafil compared to placebo was evident for effective arterial elastance Ea (p=0.35), ventricular endsystolic elastance Ees (p=0.11), VAC Ea/Ees (p=0.82), RVESVi (p=0.63) and RV ejection fraction (RVEF, p=0.6). Over the 3 years FU-time, Ea (p=0.24) and RVEF (p=0.11) did not change, whereas Ees mildly decreased (p=0.0052, fig. 1 A) and Ea/Ees increased (p=0.013, fig. 1 B). During FU, 14 patients experienced a clinical event. An Ees <0.73 mmHg/ml and an Ea/Ees ratio of >1.94 were associated with adverse clinical outcomes (for both p=0.004, fig. 2). Conclusion In sRV patients, treatment with tadalafil had no effect on VAC parameters compared to placebo. CMR-derived ventricular endsystolic elastance (Ees) and Ea/Ees ratio changed over the FU of 3 years and were associated with adverse clinical outcome.Figure 1Figure 2

The Sub-Pulmonary Left Ventricle in Patients with Systemic Right Ventricle, the Paradoxical Neglected Chamber: A Cardiac Magnetic Resonance Feature Tracking Study.

Background/Objective: The impact of subpulmonary left ventricle (LV) dysfunction in patients with a systemic right ventricle (SRV) is insufficiently characterized, with only a few studies suggesting its prognostic significance. Additionally, its evaluation through imaging techniques is a challenge. To assess the correlation between quantitative cardiac magnetic resonance-feature tracking (CMR-FT) data and the risk of clinical events related to the natural history of SRV failure. Methods: In this cross-sectional study, 21 patients with a diagnosis of transposition of the great arteries (TGA) and atrial switch operation (AtSO) or congenitally corrected transposition (ccTGA) were recruited. All participants underwent CMR-FT analysis. Considered clinical events included NYHA class deterioration (from I-II to III-IV), increased diuretic therapy, arrhythmias, sudden cardiac death, and hospitalizations. Results: The cohort consisted of 52.4% males (mean age: 25.4 ± 11.9 years). Eleven patients were diagnosed with ccTGA. Of the 10 patients with TGA post-AtSO, 50% had undergone Mustard repair. Clinical events occurred in 11 patients, with 47.6% experiencing hospitalizations and 28.6% developing arrhythmias. Left ventricular global longitudinal strain (LV GLS) was significantly associated with event-risk in both univariate and multivariate analyses (p = 0.011; p = 0.025). A cut-off value of LV GLS > -19.24 was proposed to stratify high-risk patients (p = 0.001). Conclusions: Our study confirms the role of subpulmonary LV function in determining outcomes of SRV patients. The assessment of LV GLS by using CMR-FT could significantly enhance clinical management during follow-up.

A rare spatial relation of the great arteries in patients with transposition of the great arteries: Posterior aorta and its effect on outcomes

Background: This study aimed to evaluate patients diagnosed with posterior transposition of the great arteries (TGA) in detail. Methods: This retrospective study included 192 patients (155 males, 37 females; mean age: 0.4±0.9 month; range, 0.1 to 6 month) with TGA who were followed between August 1, 2016, and August 1, 2022. Patients with ventriculoarterial discordance, normal vessel relationship, and mitral-aortic continuity were considered posterior TGA. Demographic features, clinical findings, echocardiographic data, and surgical results of each patient were recorded. Results: Posterior TGA was present in 11 (5.7%) of the patients. The median age of patients with posterior TGA at the time of surgery was two months (interquartile range [IQR], 1-3 months), and their median body weight was 6.2 kg (IQR, 5-7.2 kg). The median oxygen saturation of the patients was 85% (IQR, 80-90%). A ventricular septal defect was present in all patients on echocardiography. There was also nonrestrictive atrial septal defect and patent ductus arteriosus in four patients, and one patient had arcus aorta hypoplasia. A coronary anomaly was determined in eight of the patients during surgery. These were 1LRCA2Cx in three cases, 1LRCx in three cases, 1R2LCx in one case, and 1L2RCx in one case. Arterial switch operation and ventricular septal defect closure was performed in 10 patients initially and in one patient after a pulmonary banding operation. The median cardiopulmonary bypass time was 190 min (IQR, 170-210 min). The Lecompte maneuver was not performed in any of the patients. The median stay in the intensive care unit and the hospital was 7 days (IQR, 5-10 days) and 16 days (IQR, 14-18 days), respectively. Two patients died in the early postoperative period. Conclusion: In patients with suspected congenital heart disease, a segmental echocardiographic evaluation should be performed, and it should be kept in mind that the aorta may be located posteriorly as a rare spatial relationship in patients with TGA.

The effects of percutaneous branch pulmonary artery interventions in biventricular congenital heart disease: study protocol for a randomized controlled Dutch multicenter interventional trial

BackgroundBranch pulmonary artery (PA) stenosis is one of the most common indications for percutaneous interventions in patients with transposition of the great arteries (TGA), tetralogy of Fallot (ToF), and truncus arteriosus (TA). However, the effects of percutaneous branch PA interventions on exercise capacity remains largely unknown. In addition, there is no consensus about the optimal timing of the intervention for asymptomatic patients according to international guidelines. This trial aims to identify the effects of percutaneous interventions for branch PA stenosis on exercise capacity in patients with TGA, ToF, and TA. In addition, it aims to assess the effects on RV function and to define early markers for RV adaptation and RV dysfunction to improve timing of these interventions.MethodsThis is a randomized multicenter interventional trial. TGA, ToF, and TA patients ≥ 8 years with a class IIa indication for percutaneous branch PA intervention according to international guidelines are eligible to participate. Patients will be randomized into the intervention group or the control group (conservative management for 6 months). All patients will undergo transthoracic echocardiography, cardiac magnetic resonance (CMR) imaging, and cardiopulmonary exercise testing at baseline, 6 months, and 2–4 years follow-up. Quality of life (QoL) questionnaires will be obtained at baseline, 2 weeks post intervention or a similar range for the control group, and 6 months follow-up. The primary outcome is exercise capacity expressed as maximum oxygen uptake (peak VO2 as percentage of predicted). A total of 56 patients (intervention group n = 28, control group n = 28) is required to demonstrate a 14% increase in maximum oxygen uptake (peak VO2 as percentage of predicted) in the interventional group compared to the control group (power 80%, overall type 1 error controlled at 5%). Secondary outcomes include various parameters for RV systolic function, RV functionality, RV remodeling, procedural success, complications, lung perfusion, and QoL.DiscussionThis trial will investigate the effects of percutaneous branch PA interventions on exercise capacity in patients with TGA, ToF, and TA and will identify early markers for RV adaptation and RV dysfunction to improve timing of the interventions.Trial registrationClinicalTrials.gov NCT05809310. Registered on March 15, 2023.

ADVANCES IN DIAGNOSIS AND TREATMENT OF CONGENITAL HEART DISEASE: A COMPREHENSIVE REVIEW

The purpose of this article is to provide a comprehensive review of recent advances in the diagnosis and treatment of congenital heart disease (CHD). CHD, which affects about 1% of live births worldwide, is still a major problem in pediatric cardiology. The most prevalent congenital cardiac defects—Ventricular Septal Defect (VSD), Tetralogy of Fallot (TOF), Coronary Artery Fistula, Coarctation of the Aorta (CoA), Aortic and Pulmonary Stenosis, Valve Insufficiency, Double Outlet Right Ventricle (DORV), Ebstein Anomaly, Transposition of the Great Arteries (TGA), Anomalous Venous Return, and Hypoplastic Left Heart Syndrome (HLHS) are all thoroughly examined in this review. The review examines current diagnostic and treatment strategies, highlighting the benefits, drawbacks, sensitivity, and specificity of several imaging modalities, including as CT, MRI, and echocardiography. It also discusses the historical evolution of treatment outcomes, emphasizing the tremendous advances in patient care and surgical procedures that have significantly mproved survival rates and quality of life for CHD patients.

Prognostic Significance of Hemodynamics in Patients With Transposition of the Great Arteries and Systemic Right Ventricle.

Patients with transposition of the great arteries (TGA) and systemic right ventricle often confront significant adverse cardiac events. The prognostic significance of invasive hemodynamic parameters in this context remains uncertain. Our hypothesis is that the aortic pulsatility index and hemodynamic profiling utilizing invasive measures provide prognostic insights for patients with TGA and a systemic right ventricle. This retrospective multicenter cohort study encompasses adults with TGA and a systemic right ventricle who underwent cardiac catheterization. Data collection, spanning from 1994 to 2020, encompasses clinical and hemodynamic parameters, including measured and calculated values such as pulmonary capillary wedge pressure, aortic pulsatility index, and cardiac index. Pulmonary capillary wedge pressure and cardiac index values were used to establish 4 distinct hemodynamic profiles. A pulmonary capillary wedge pressure of ≥15 mm Hg indicated congestion, termed wet, while a cardiac index <2.2 L/min per m2 signified inadequate perfusion, labeled cold. The primary outcome comprised a composite of all-cause death, heart transplantation, or the requirement for mechanical circulatory support. Of 1721 patients with TGA, 242 individuals with available invasive hemodynamic data were included. The median follow-up duration after cardiac catheterization was 11.4 (interquartile range, 7.5-15.9) years, with a mean age of 38.5±10.8 years at the time of cardiac catheterization. Among hemodynamic parameters, an aortic pulsatility index <1.5 emerged as a robust predictor of the primary outcome, with adjusted hazard ratios of 5.90 (95% CI, 3.01-11.62; P<0.001). Among the identified 4 hemodynamic profiles, the cold/wet profile was associated with the highest risk for the primary outcome, with an adjusted hazard ratio of 3.83 (95% CI, 1.63-9.02; P<0.001). A low aortic pulsatility index (<1.5) and the cold/wet hemodynamic profile are linked with an elevated risk of adverse long-term cardiac outcomes in patients with TGA and systemic right ventricle.

Integrated prenatal and postnatal management for neonates with transposition of the great arteries: thirteen-year experience at a single center

BackgroundTransposition of the great arteries (TGA) is the most common cyanotic congenital heart defect in neonates but with low prenatal detection rate. This study sought to review the prenatal diagnosis, associated abnormalities, and mid-term postnatal outcomes of fetuses with TGA and investigate the integrated prenatal and postnatal management for TGA neonates.MethodsA total of 134 infants prenatally diagnosed with TGA in Guangdong Provincial People’s Hospital, China, from January 2009 to December 2022 were included in the study. The prenatal ultrasound data and neonatal records were reviewed to assess the accuracy of prenatal diagnosis. Univariate and multivariate logistic and Cox analyses were used to identify risk factors associated with prognosis in such individuals.ResultsThe population originated from 40 cities in 10 provinces in China, with integrated antenatal and postnatal management rate reaching 94.0% (126/134) and a high accuracy rate (99.3%) of prenatal primary diagnosis. The median period of follow-up was 1.6 [interquartile range (IQR) 0.1–4.3] years. There were 3 (2.2%) postnatal deaths, 118 (88.1%) patients undergoing arterial switch operation (ASO), 3 (2.2%) undergoing Rastelli operations and 5 (3.7%) doing stage operations. Of 118 patients receiving ASO, the major morbidity occurred in 64 patients (54.2%), and right ventricular outflow tract obstruction (RVOTO) in 31 (26.3%). In the multivariate logistic analysis, gestational ages at birth (OR = 0.953, 95% CI 0.910–0.991; p = 0.025) and cardiopulmonary bypass (CPB) time (OR = 1.010, 95% CI 1.000–1.030; p = 0.038) were identified as independent risk factors associated with major morbidity. In the Cox multivariate analysis, aortic cross-clamping time (HR = 1.030, 95% CI 1.000–1.050; p = 0.017) was identified as independent risk factor associated with RVOTO.ConclusionEarlier gestational ages at birth and longer CPB time are significantly associated with increased morbidity. Integrated prenatal and postnatal management is recommended for patients with prenatal diagnosis of TGA.

The importance and prognostic effect of thyroid hormones in patients with transposition of the great arteries

Objectives: Transposition of the great arteries (TGA) is a rare congenital heart disease that occurs in 3 in 10,000 newborns and is rapidly fatal (90%) within one year if left untreated. The prognosis of this pathology changed after introducing an early arterial switch operation (ASO), while the left ventricle could still adapt to systemic high-pressure conditions. Appropriate regulation of thyroid hormones positively impacts metabolism, cardiac function, and postoperative recovery. Therefore, regular thyroid hormone monitoring and thyroid function monitoring of TGA patients may help to improve the health status and prognosis of this group of postoperative patients. Methods: In our study, 127 patients who underwent ASO at our pediatric cardiac surgery clinic between 01.01.2014 and 18.09.2021 were retrospectively analyzed and included. Among the patients, 43% (n=54) were females, and 57% (n=73) were males. Results: The coronary arteries were normal in 89.7% (n=114) and abnormal in 10.3% (n=13) of the patients. Twenty-one of the patients exited, and mortality was calculated to be 16.5%. There were no significant differences in mortality or thyroid stimulating hormone (TSH), free thyroxine (T4), or free triiodothyronine (T3) values (P=0.674, P=0.345, P=0.478). In our study, in which we investigated the effect of thyroid hormone levels on prognosis in neonatal patients with TGA with normal free T3, T4, and TSH values, we found that TSH levels were greater in the group with advanced aortic regurgitation and exitus, although the effect of thyroid hormones on postoperative results was not statistically significant. Conclusions: Congenital hypothyroidism is a common disease with cardiac effects. During the neonatal period, this disease may conceal itself. Careful, expert clinical follow-up and clinical trials are crucial to improve outcomes in the surgical treatment of transposition of the great arteries, a complex congenital heart disease.

Intubation and Lower Saturation in the Delivery Room are Associated with Balloon Atrial Septostomy in Neonates with Transposition of the Great Arteries

To identify delivery room (DR) characteristics of patients with transposition of the great arteries (TGA) who underwent preoperative balloon atrial septostomy (BAS). Retrospective cohort study of all patients with prenatally diagnosed TGA delivered at our center between 2013 and 2023 who underwent arterial switch operation during the newborn admission. A total of 168 patients were included (median gestational age 39.5weeks, 64% male, 33% with ventricular septal defect, 8% with aortic arch hypoplasia). BAS was performed in 84 patients (50%). Patients who underwent BAS had higher proportion of intubation in the DR (87% vs 33%, P<.001), lower maximum oxygen saturation in the first 10minutes (64% vs 74%, P<.001) and 20minutes (71% vs 81%, P<.001) of life, and lower maximum oxygen saturation at any point in the DR (79% vs 87%, P<.001). Adjusting for confounders (ventricular septal defect, aortic arch anomaly, 5-minute Apgar, birth weight), intubation in the DR (aOR 9.5, 95% CI 3.9, 25.0) and lower maximum oxygen saturation in the DR (aOR 0.9, 95% CI 0.8, 0.9) were independently associated with BAS. By receiver operating characteristic analysis, a maximum oxygen saturation of less than 86% at any time point in the DR discriminated for BAS with a specificity of 0.88, sensitivity of 0.70, and area under the curve of 0.82. Intubation and lower oxygen saturation in the DR are independently associated with BAS in patients with TGA born at our center. A maximum DR saturation of less than 86% best discriminates patients who undergo BAS in our population.

Long-term Outcome After Repair of Transposition of the Great Arteries With Aortic Arch Obstruction

BackgroundThis study compares the long-term outcomes of patients after repair of transposition of the great arteries (TGA) with and without aortic arch obstruction (AAO). MethodsThis is a single-institution, retrospective study between October 2004 and February 2023. Patients who underwent arterial switch operation and aortic arch repair (ASO-AAR group) with patch augmentation were compared with those without AAO (ASO group). The primary end point was survival; freedom from reintervention was a secondary end point. ResultsWe identified 176 patients, 31 in the ASO-AAR group and 145 in the ASO group. The median follow-up period was 10.3 years. There were no differences between the ASO-AAR group and the ASO group in early deaths (3.2% vs 0.7%) and late deaths (3.2% vs 2.8%), or 15-year survival rates (92.6% vs 96.2%). Surgical and catheter-based reinterventions were higher in the ASO-AAR group, involving the pulmonary arteries (41.9% vs 4.8%, P < .001), aortic arch (16.1% vs 0.7%, P < .001), and residual ventricular septal defects (11.4% vs 0%, P = .05). The ASO-AAR group showed a higher prevalence of double-outlet right ventricle TGA-type (61.3% vs 4.1%, P < .001) and a lower aortopulmonary index (0.67 vs 1.01, P < .001). ConclusionsPatients undergoing surgical repair of TGA and AAO achieved excellent survival rates, comparable to patients with simple transposition. A higher rate of surgical and catheter-based reinterventions was observed in patients with arch obstruction and/or a low aortopulmonary index. AAR with patch augmentation proved to be an effective surgical technique with a low incidence of aortic reinterventions.

Progesterone for Neurodevelopment in Fetuses With Congenital Heart Defects

Neurodevelopmental outcomes for children with congenital heart defects (CHD) have improved minimally over the past 20 years. To assess the feasibility and tolerability of maternal progesterone therapy as well as the magnitude of the effect on neurodevelopment for fetuses with CHD. This double-blinded individually randomized parallel-group clinical trial of vaginal natural progesterone therapy vs placebo in participants carrying fetuses with CHD was conducted between July 2014 and November 2021 at a quaternary care children's hospital. Participants included maternal-fetal dyads where the fetus had CHD identified before 28 weeks' gestational age and was likely to need surgery with cardiopulmonary bypass in the neonatal period. Exclusion criteria included a major genetic or extracardiac anomaly other than 22q11 deletion syndrome and known contraindication to progesterone. Statistical analysis was performed June 2022 to April 2024. Participants were 1:1 block-randomized to vaginal progesterone or placebo by diagnosis: hypoplastic left heart syndrome (HLHS), transposition of the great arteries (TGA), and other CHD diagnoses. Treatment was administered twice daily between 28 and up to 39 weeks' gestational age. The primary outcome was the motor score of the Bayley Scales of Infant and Toddler Development-III; secondary outcomes included language and cognitive scales. Exploratory prespecified subgroups included cardiac diagnosis, fetal sex, genetic profile, and maternal fetal environment. The 102 enrolled fetuses primarily had HLHS (n = 52 [50.9%]) and TGA (n = 38 [37.3%]), were more frequently male (n = 67 [65.7%]), and without genetic anomalies (n = 61 [59.8%]). The mean motor score differed by 2.5 units (90% CI, -1.9 to 6.9 units; P = .34) for progesterone compared with placebo, a value not statistically different from 0. Exploratory subgroup analyses suggested treatment heterogeneity for the motor score for cardiac diagnosis (P for interaction = .03) and fetal sex (P for interaction = .04), but not genetic profile (P for interaction = .16) or maternal-fetal environment (P for interaction = .70). In this randomized clinical trial of maternal progesterone therapy, the overall effect was not statistically different from 0. Subgroup analyses suggest heterogeneity of the response to progesterone among CHD diagnosis and fetal sex. ClinicalTrials.gov Identifier: NCT02133573.

Geospatial Distribution of Prenatally and Postnatally Diagnosed Congenital Heart Disease: Implications for Equitable Care from a Fetal Heart Society Research Collaborative Study

To characterize patterns in the geospatial distribution of pre- and postnatally diagnosed congenital heart disease (CHD) across 6 surgical centers. A retrospective, multicenter case series from the Fetal Heart Society identified patients at 6 centers from 2012 through 2016 with prenatally (PrND) or postnatally (PoND) diagnosed hypoplastic left heart syndrome (HLHS) or d-transposition of the great arteries (TGA). Geospatial analysis for clustering was done by the average nearest neighbor (ANN) tool or optimized hot spot tool, depending on spatial unit and data type. Both point location and county case rate per 10 000 live births were assessed for geographic clustering or dispersion. Of the 453 CHD cases, 26% were PoND (n=117), and 74% were PrND (n=336). PrND cases, in all but one center, displayed significant geographic clustering by the ANN. Conversely, PoND cases tended toward geographic dispersion. Dispersion of PoND HLHS occurred in 2 centers (ANN=1.59, P<.001; and 1.47, P=.016), and PoND TGA occurred in 2 centers (ANN=1.22, P<.05; and ANN=1.73, P<.001). Hot spot analysis of all CHD cases (TGA and HLHS combined) revealed clustering near areas of high population density and the tertiary surgical center. Hot spot analysis of county-level case rate, accounting for population density, found variable clustering patterns. Geographic dispersion among postnatally detected CHD highlights the need for a wider reach of prenatal cardiac diagnosis tailored to the specific needs of a community. Geospatial analysis can support centers in improving the equitable delivery of prenatal care.

Transbaffle or retrograde aortic approach for atrial arrhythmias ablation in patients with D-TGA treated with atrial switch surgery

Abstract Introduction Patients with D- transposition of the great arteries (TGA) treated with Senning or Mustard surgeries have high incidence of supraventricular tachycardias (SVTs). Accessing to the pulmonary venous atrium (PVAt) is frequently required to perform the ablation, however it can be challenging. Aim To investigate the differences between a retrograde aortic approach (Re-Aa) and transbaffle approach (TBa) for PVAt ablation in this set of patients. Methods Prospective observational study in a third level hospital since April 2018 until October 2022, with a medium-term follow-up. All consecutive patients (pt) with history of SVT and atrial switch surgery that underwent electrophysiologic study (EP) and electroanatomic mapping using a high-density Grid mapping catheter and a contact-force ablation catheter were included. Results A total of 25 EPs were performed in 20 pt (13 (52%) Female, median age 37 y.o [IQR 34-41], median follow-up time 13 month [IQR 10-37]). In 14 pt the PVAt was mapped and ablated via Re-Aa, and in 11 with TBa. Table 1 shows basal patients characteristics, note that no significant differences between groups were found. In 19 pt (76%) a CTI-dependent flutter was documented (10 (71%) in Re-Aa group and 9 (82%) in TBa, p=0.6). Furthermore, in 7 pt other tachycardia circuits were found. Accurate mapping of all the CTI walls were achieved with both strategies, however, the posterior PVAt wall and the pulmonary veins were suboptimal mapped with Re-Aa due to a lack of catheter contact. Acute ablation success was 83% in Re-Aa and 100% in TBa (p=0.5). Despite a higher recurrence rate in the Re-Aa in the first months (20% vs 0%), no significant differences in recurrences were found between groups within 1 year of follow-up (HR 1.3 [95%CI: 0,2-7], p=0.8) (FIGURE). Complication rate was 20% in Re-Aa and 0% in TBa. All complications were directly related to the arterial vascular access (1 femoral pseudoaneurysm, 1 iliac dissection, 1 mediastinal hematoma), and were successfully treated. Conclusion In D-TGA treated with atrial switch surgery, PVAt mapping and ablation is feasible with both strategies with a high acute success rate and without significant differences in recurrences at mid-term follow up. However, TBa is associated with a lower complications rate and also with a better catheter contact and accurate mapping in the PVAt posterior wall.

Relationship between diagnosis of conus arteriosus malformation and genetic diagnosis results in fetal cardiac axis abnormalities by echocardiography during middle pregnancy.

To explore the clinical value of echocardiography in detecting fetal cardiac axis abnormalities during middle pregnancy for diagnosing conus arteriosus malformation, and to compare and analyze the genetic diagnosis results, in order to provide evidence for clinical diagnosis and intervention. Four hundred twenty-one fetuses with conus arteriosus malformation from January 2020 to October 2023 were included as the conus arteriosus malformation group, and 917 healthy fetuses (all single fetuses) matched at the same gestational age were selected as the healthy group. There was no significant difference in gestational weeks between two groups (P > 0.05). The age of pregnant women in conus arteriosus malformation group was lower compared to healthy group (P < 0.05), and the fetal cardiac axis in conus arteriosus malformation group was significantly higher compared to healthy group (P < 0.05). Among the fetuses with conus arteriosus malformation, tetralogy of Fallot (TOF), transposition of the great arteries (TGA) and double outlet right ventricle (DORV) had the highest proportions, accounting for 38.00%, 18.29% and 17.58%, respectively. Among all types of conus arteriosus malformations, atresia pulmonary valve syndrome associated with TOF, persistent truncus arteriosus and DORV exhibited higher proportions of fetal cardiac axis abnormalities, at 75.00%, 36.84% and 27.03%, respectively, while TGA and interrupted aortic arch associated with B-type interruption had lower proportions of fetal cardiac axis abnormalities, at 2.60% and 4.55%, respectively. Genetic testing was conducted on 73 cases (17.34%) of fetuses with conus arteriosus malformation in this study. Among them, fetal cardiac axis abnormalities were considered positive for genetic results due to factors such as aneuploidy, copy number abnormalities, and single-gene pathogenicity. A total of 31 cases tested positive for genetic anomalies, with a positive rate of approximately 42.47%. In the middle pregnancy, the fetal cardiac axis in cases of conus arteriosus malformation was significantly higher than in normal fetuses. Moreover, there were variations in fetal cardiac axis among different types of conus arteriosus malformations, and these differences were notably associated with genetic diagnostic results.

Long-term impact of coronary artery transfer techniques during the arterial switch operation on neo-aortic root dilation

BackgroundAortic dilation (AD) remains one of the most common complications needing re-operation after ASO (arterial switch operation) in simple transposition of the great arteries (TGA). ObjectivesWe sought to clarify which coronary artery transfer techniques help to minimize postoperative neo-aortic root dilation after ASO for TGA. Methods117 patients were identified in the German National Register for Congenital Heart Defects presenting transposition of the great arteries with intact ventricular septum (TGA-IVS) with minimum 5-year follow-up who underwent ASO between 1986 and 2015 at 16 centers. Our study population was divided into two groups depending on the sinus tissue gain during coronary re-implantation. Group one (n = 72) included the tissue-gaining techniques slit, trap-door, J-/V-/U-incision, and pericardial augmentation. Group two (n = 45) included ‘punch’ as the no-tissue gaining technique. Transthoracic echocardiography data were analyzed retrospectively for development of neoaortic dilation defined by Z-score ≥ 2.0. As secondary endpoint was analyzed, the need for reintervention due to aortic pathology. ResultsMedian follow-up was 11 (5–29) years; cumulative follow-up was 853 patient-years for group one and 19 (5–34) years; cumulative follow-up was 853 patient-years for group two, comprising 1706 patient-years, p < 0.0001. We observed statistically significant higher Z-scores at the aortic valve annulus level in group one (p = 0.03). There was no statistically significant difference between both groups regarding re-operation. ConclusionNeo-aortic roots of patients who underwent sinus gain tissue coronary artery transfer techniques show higher Z-scores than the punch technique in long-term postoperative follow-up. Lifelong surveillance of patients after ASO seems necessary.

A VERY COMPLEX CASE OF DORV TYPE FALLOT: A CASE REPORT

Abstract Double outlet right ventricle (DORV) is a rare CHD characterized by ventriculoarterial connection in which both great arteries arise entirely or predominantly from the right ventricle. Its prevalence is 0.9% of all CHDs. Several chromosomal abnormalities have been associated with DORV, including trisomy 13, trisomy 18, and chromosome 22q11 deletion. Hearts with DORV are an extremely heterogeneous group showing various morphological features, connections, and relationships at each level of the cardiac segments and intersegmental junctions. As a consequence, the clinical manifestations and required surgical procedures for patients with DORV are variable. The anatomical spectrum is higly variable: it can be associated with ventricular septal defect, transposition of the great arteries (TGA) and functional single ventricle. We report the case of an infant with prenatal diagnosis of CHD and finding partial duplication of the short arm of the X chromosome. Pregnant woman at 22 weeks comes to the outpatient clinic to perform follow–up ultrasound. At that site finding of CHD which was later confirmed at birth and therefore prostaglandin therapy was started. Echocardiogram showed a wide DIV from malalignment with antero–cephalic deviation of the conal septum with significant aortic destroposition configuring picture of double outlet right ventricle. It also presents a complex right efflux obstruction already at subvalvular pulmonary departure. The pulmonary valve presented dysplastic, with en dome motion, hypoplastic. Pulmonary perfusion appears to be provided predominantly by the Botallo‘s duct originating from the isthmic region of the aorta and leading with a long and tortuous course to the pulmonary confluence near the left pulmnary artery with high velocity flow. The remaining findings are normal. Therefore, in view of the clinical picture, he was subjected to palliative surgery of right systemic–pulmonary shunt between the brachiocephalic trunk and right pulmonary artery (modified Blalock–Taussing surgery) in 3.5mm PTFE and ligation of Botallo‘s duct. At subsequent follow–up, the systemic–pulmonary shunt appeared pervious with regular flow. Wide DIV from anterior malalignment with aorta cavalier to DIV. Severe stenosis at complex pulmonary outflow with max gradient up to 124mmHg with dynamic and valvular component. For the subsequent course of treatment, the patient will be discussed collegially.

Echocardiographic imaging of neonatal transposition of great arteries: Rare case report and review of literature

Transposition of the great arteries (TGA) is a congenital conotruncal abnormality characterized by discordant connections between the ventricles and great arteries, with the aorta originating from the right ventricle (RV), and the pulmonary artery (PA) originating from the left ventricle (LV). The two main types of TGA are complete transposition or dextro-transposition of the great arteries (D-TGA), commonly referred to as D-loop, and congenitally corrected transposition (CCTGA), commonly referred to as L-loop or L-TGA. In D-TGA, the connections between the ventricles and atria are concordant, whereas in CCTGA they are discordant, with the left atrium connected to the RV, and the right atrium connected to the LV. Imaging plays an important role in the evaluation of TGA, both before and after surgery, for helping define the anatomy, quantify hemodynamics, and evaluate complications. Transthoracic echocardiography is the first-line imaging modality for pre-surgical planning in children with TGA. MRI provides comprehensive morphologic and functional information, particularly in adults after surgery. CT is performed when MRI is contraindicated or expected to generate artifacts. We are reporting an extremely rare and unique case of 25-day old male neonate, suffering from TGA with a side to side alignment of great arteries, accompanied by a moderate sized restrictive atrial septal defect (ASD) and an ascending aortic aneurysm (AAA).