Atrial Isomerism Research Articles

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.

Successful repair of infracardiac total anomalous pulmonary venous connection with nonconfluent bilateral pulmonary veins.

We report a rare case of an infracardiac-type total anomalous pulmonary venous connection with nonconfluent bilateral pulmonary veins in a patient diagnosed with heterotaxy syndrome with right atrial isomerism, mitral valve atresia, a single atrium, and double-outlet right ventricle. On the fourth day of life, the patient underwent successful repair using a sutureless technique. Two years after the surgery, the patient remained well without any signs of pulmonary venous obstruction.

The Clinical Outcomes in Patients With Atrial Isomerism Undergoing Single Ventricular Palliation: Insights From A Single-Center Study in Thailand.

Background: The management of atrial isomerism across various countries may impact survival outcomes. Methods: This retrospective study involved patients diagnosed with atrial isomerism undergoing single ventricular palliation between 2000 and 2021. The objective was to evaluate survival outcomes within the right atrial isomerism (RAI) and left atrial isomerism (LAI) groups, as well as overall survival. Results: Of the 125 patients diagnosed with atrial isomerism, 105 (84%) had RAI, and 20 (16%) had LAI. The median age at presentation was 3 days (range: birth to 7.1 years), with median follow-up of 6.6 years (range: 0.59 months to 30.8 years). In the overall cohort, survival rates at one, five, and ten years were 85.6%, 72.3%, and 66.8%, respectively, with no statistically significant difference between RAI and LAI groups (log rank P value = .293). Specifically, survival rates in the RAI group at one, five, and ten years were 83.8%, 69.0%, and 62.6%, respectively, while in the LAI group, there were 95.0%, 89.7%, and 81.6%, respectively. Following the third-stage operation, overall survival rates at one and five years were 76.4% and 76.4%, respectively. Among patients in the RAI group, survival rates at one and five years post-third stage operation were 80.2% and 80.2%, respectively. Conclusions: Despite resource limitations, the survival outcomes of patients with atrial isomerism were found to be similar with those observed in high-income countries. Although an increased mortality rate was noted within the first year of life, focusing efforts on neonatal and infant care holds potential for improving overall outcomes.

Assessing the risk of reoperation for mild pulmonary vein obstruction post-TAPVC repair: a retrospective cohort study.

This study investigates the impact of mild pulmonary vein obstruction, detected via echocardiography before hospital discharge, on the likelihood of reoperation in patients who have undergone repair for Total Anomalous Pulmonary Venous Connection (TAPVC). Utilizing a single-center, retrospective cohort approach, we analyzed 38 cases from October 2017 to December 2023, excluding patients with functionally univentricular circulations or atrial isomerism. Our primary outcome was the necessity for reoperation within one year due to anatomical issues related to the initial TAPVC repair. Mild obstruction was defined as a pulmonary vein flow velocity ≥1.2 m/s. Our findings revealed that 31.6% of patients exhibited pre-discharge mild obstruction. During the median follow-up of 10 months, reoperations were notably higher in the mild obstruction group compared to the normal group, with a significant association between pre-discharge mild obstruction and increased risk of reoperation. Specifically, in the fully adjusted model, mild obstruction was linked to a 13.9-fold increased risk of reoperation. Our results suggest that a pre-discharge echocardiography Doppler velocity threshold of 1.2 m/s could serve as a critical predictor for reoperation, emphasizing the need for targeted follow-up strategies for at-risk patients.

Ultrasound and computed tomography angiography diagnosis of fetal right atrial isomerism with cardiac total anomalous pulmonary venous connection and intestinal malrotation: a case report and literature review.

Right atrial isomerism is a rare and severe isomerism. It is frequently associated with complex congenital heart disease and various extracardiac anomalies. Imaging diagnosis of right atrial isomerism is a challenge. Multisystem and complex anomalies in a 24-week-old fetus were diagnosed with prenatal ultrasound, postnatal computed tomography angiography (CTA), and autopsy. The ultrasound detected most major cardiovascular anomalies including right atrial isomerism and total anomalous pulmonary venous connection. The CTA further detected thoracic and abdominal malformations such as bilateral morphologically right bronchus, diaphragmatic hernia, asplenia, midline liver, and intestinal malrotation. The autopsy confirmed both ultrasound and CTA findings with additional findings, namely, bilateral trilobed lungs and bilateral morphological right auricles. Prenatal ultrasound and postnatal CTA can be complementary to each other in detecting multi-system complex anomalies. Their combined use can be useful for prenatal counseling and postpartum management.

Insight into the research history and trends of total anomalous pulmonary venous connection: a bibliometric analysis

BackgroundTotal anomalous pulmonary venous connection (TAPVC) is a rare congenital heart disease characterized by the inability of all pulmonary veins to connect to the left atrium. Our previous bibliometric article summarized the characteristics of only the 100 most cited papers in TAPVC research. The purpose of this study was to use comprehensive bibliometric analysis to examine the development history, current status, and future trends in the field of TAPVC.MethodsAll publications on TAPVC published between 2000 and 2023 were collected from the Web of Science Core Collection. The publication and citation data were quantitatively analyzed by publication year, country, institution, author, and journal. Co-authorship and co-occurrence analyses were performed using VOSviewer, and keyword and reference bursts were identified using CiteSpace. Pearson’s test was used to examine the correlations between two continuous variables.ResultsAs of July 20, 2023, we identified 368 publications with 3320 citations. These publications were published in 132 journals and authored by 1835 researchers from 457 institutions in 47 countries. For the number of publications, the top country, top institution, top author, and top journals were the United States (n = 82), Shanghai Jiao Tong University (n = 13), Huiwen Chen (n = 9), and Annals of Thoracic Surgery and Pediatric Cardiology (n = 29 each), respectively. For the number of citations, the top country, top affiliation, top author, and top journal were the United States (n = 1348), University of Toronto (n = 250), Christopher A. Caldarone (n = 315), and Annals of Thoracic Surgery (n = 746), respectively. The number of national publications significantly correlated with GDP (R = 0.887, P < 0.001), research & development (R&D) expenditure (R = 0.375, P = 0.013), population (R = 0.694, P < 0.001), and journals (R = 0.751, P < 0.001). The number of national citations significantly correlated with GDP (R = 0.881, P < 0.001), R&D expenditure (R = 0.446, P = 0.003), population (R = 0.305, P = 0.037), and journals (R = 0.917, P < 0.001). International collaboration in the field of TAPVC was not well developed. The most commonly cited publication discussed era changes in mortality and reoperation rate in TAPVC patients. The most common keywords were “total anomalous pulmonary venous connection” and “congenital heart disease”. The keyword “case report” appeared most recently, with an average occurrence year of 2021.8. The co-occurrence analysis grouped 26 keywords into six themes: surgical repair of TAPVC, postoperative pulmonary vein stenosis, surgical repair of TAPVC patients with heterotaxy, application of echocardiography in diagnosing TAPVC, application of echocardiography in the prenatal diagnosis of TAPVC, and application of the sutureless technique in the surgical repair of TAPVC patients with right atrial isomerism or a single ventricle. Citation burst detection identified 32 references with citation bursts, seven of which had ongoing citation bursts until 2023.ConclusionsThis study conducted a bibliometric analysis to provide a comprehensive overview of TAPVC research. We hope to offer new ideas for promoting development in the field of TAPVC.

Probable atrioventricular reentry tachycardia (Node to Node) in a patient with right atrial isomerism in the immediate postoperative period of palliative surgery

Probable atrioventricular reentry tachycardia (Node to Node) in a patient with right atrial isomerism in the immediate postoperative period of palliative surgery

Fetal Cardiac Abnormality Left Atrial Isomerism

Fetal Cardiac Abnormality Left Atrial Isomerism

Transesophageal Echocardiographic Assessment of Single Ventricle Physiology with Interrupted Inferior Vena Cava in a Case of Heterotaxy Syndrome Posted for Kawashima Procedure and Hepatic Vein Rerouting

Transesophageal echocardiography (TEE) is essential in delineating the anatomy, physiology, and perioperative management of single ventricle (SV) lesions. SV lesion is commonly associated with heterotaxy syndrome causing abnormal lateralization of organs across the body’s left-right axis. It is manifested as right atrial or left atrial isomerism. Patients with SV physiology require the Glenn procedure for surgical palliation whereas Fontan operation as definitive intervention. However, in a patient with interrupted inferior vena cava (IVC), the Kawashima procedure is used for definitive palliation. We report a 15-year-old female child diagnosed with SV physiology and interrupted IVC in association with heterotaxy syndrome posted for the Kawashima procedure and hepatic vein rerouting and illustrate the importance of perioperative TEE in delineating the anatomy, decision-making, and confirming the success of repair.

Situs Ambiguus Is Associated With Adverse Clinical Outcomes in Children With Primary Ciliary Dyskinesia

BackgroundPrimary ciliary dyskinesia (PCD) is a rare disorder of motile cilia associated with situs abnormalities. At least 12% of patients with PCD have situs ambiguus (SA), including organ laterality defects falling outside normal arrangement [situs solitus (SS)] or mirror image inversion [situs inversus totalis (SIT)]. Research QuestionDo patients with PCD and SA have worse clinical outcomes compared to those with SS or SIT? Study Design and MethodsThis cross-sectional, multicenter study evaluated participants ≤21 years with PCD. Participants were classified as SA, including heterotaxy, or non-SA (SS or SIT). Markers of disease severity were compared between situs groups, adjusting for age at enrollment and severe CCDC39/CCDC40 genotype, using generalized linear models, logistic and Poisson regression. ResultsIn 397 participants with PCD (mean age 8.4 years, range 0.1-21), 42 were classified as SA, including 16 (38%) with complex cardiovascular malformations (CVM) or atrial isomerism, 13 (31%) with simple CVM, and 13 (31%) without CVM. Of these, 15 (36%) underwent cardiac surgery, 24 (57%) had an anatomic spleen abnormality, and 7 (17%) had both. The remaining 355 participants were non-SA, including 152 with SIT and 203 with SS. Overall, 70 (17%) participants had the severe CCDC39/CCDC40 genotype. Compared to non-SA participants, those with SA had lower median body mass index Z-scores (p=0.03), lower forced vital capacity Z-scores (p=0.01), more hospitalizations and intravenous antibiotic courses for acute respiratory infections during the 5-years before enrollment (p<0.01). Participants with CVM requiring surgery or anatomic spleen abnormalities had lower median body mass index Z-scores and more hospitalizations and intravenous therapies for respiratory illnesses compared to non-SA participants. InterpretationChildren with PCD and SA have worse nutritional and pulmonary outcomes with more hospitalizations for acute respiratory illnesses than those with SS or SIT combined. Poor nutrition and increased hospitalizations for respiratory infections in SA participants with PCD are associated with CVM requiring cardiac surgery and/or splenic anomalies. ClinicalTrials.gov: NCT02389049, NCT00323167

Cardiac Laterality: Surgical Results of Right Atrial Isomerism.

Right atrial isomerism (RAI) is a complex entity with varying diagnostic and treatment outcomes due to its rarity. Treatment options range from palliative to corrective surgeries, resulting in heterogeneous outcomes. The aim of this study was to analyze the results obtained after cardiac surgery in patients with RAI. A retrospective study was conducted, including patients diagnosed with RAI who underwent cardiac surgery. Their follow-up was from 1 January 2010 to 31 March 2020. Demographic characteristics and perioperative conditions were described. Thirty-eight patients were included, the median age was 4 years (IQR 2-9.2) and 57.9% were men. The main diagnoses were atrioventricular canal (63.2%) and pulmonary stenosis (55.3%). The most common surgical procedures were modified Blalock-Taussig shunt (65.8%) and total cavopulmonary connection with an extracardiac conduit fenestrated without cardiopulmonary bypass (15.9%). We did not find any factors associated with negative outcomes in these patients. The overall survival was 86.8%, with a better outcome in those who did not require reintubation (log rank, p < 0.01). The survival of RAI was similar to other centers. Individuals with RAI should be evaluated rigorously to determine an adequate repair strategy, considering high morbidity and mortality.

EP24.42: Left atrial isomerism with mitral atresia‐VSD, interrupted IVC and hemiazygos continuation to PLSVC and draining directly to left atrium at 26–27 weeks

EP24.42: Left atrial isomerism with mitral atresia‐VSD, interrupted IVC and hemiazygos continuation to PLSVC and draining directly to left atrium at 26–27 weeks

Long-term outcomes of functional single ventricles associated with heterotaxy syndrome†.

The goal of this study was to determine the long-term surgical outcomes of patients with functional single ventricles associated with heterotaxy syndrome, risk factors for mortality and factors associated with Fontan stage completion. Overall, 279 patients with a functional single ventricle associated with heterotaxy syndrome who underwent an initial surgical procedure at our institute between 1978 and 2021 were grouped into 4 "eras" based on the surgical year during which the initial procedure was performed: era 1 (1978-1989, n = 71), era 2 (1990-1999, n = 98), era 3 (2000-2009, n = 64) and era 4 (2010-2021, n = 46). Neonatal surgery was more frequent in eras 3 and 4 than in eras 1 and 2. Overall, 228 patients had right atrial isomerism; 120 patients (43.0%) had a total anomalous pulmonary venous connection; and 58 patients (20.8%) underwent an initial procedure as neonates. Overall survival rates at 10, 20 and 30 years after the initial procedure were 47.1%, 40.6% and 36.1%, respectively. Neonatal surgery (P < 0.001), total anomalous pulmonary venous connection repair at the initial procedure (P < 0.001) and early era (P < 0.001) were identified as risk factors for mortality, with the last 2 variables being negatively associated with Fontan stage completion (P < 0.001 for both). Although era had a favourable effect on survival, total anomalous pulmonary venous connection with intrinsic pulmonary vein obstruction was associated with both mortality and Fontan stage completion. R19092.

Clinical profile, prenatal detection and predictors of outcome of heterotaxy syndromes in Western Australia

BackgroundHeterotaxy syndromes encompass left and right atrial isomerism (LAI and RAI respectively) and are associated with variable cardiac and non-cardiac anomalies which greatly influence outcomes. RAI is usually associated with complex congenital heart disease (CHD), early surgical intervention and increased mortality. LAI is less commonly associated with complex CHD but can be associated with heart block. The objective of this study was to review the clinical features and outcomes of patients with heterotaxy syndromes in Western Australia (WA). MethodsA retrospective review was performed of live born patients diagnosed with heterotaxy from 2003 to 2022 in a statewide tertiary cardiac service, representing all cases in WA with a view to compare the outcomes between LAI and RAI at our centre. Results30 patients (53% male) were diagnosed with heterotaxy; 16 (53%) with LAI and 14 (47%) with RAI. Overall incidence was 0.48 per 10,000 live births over the defined period. RAI patients were significantly more likely to have an antenatal diagnosis (81.8% versus LAI 28.6%, p = 0.03). Overall, 5-year survival was 56% for RAI and 87% for LAI. No deaths occurred after the first 12 months of life with a median follow-up of 65 months (IQR 114.8). RAI was associated with asplenia (91%), atrioventricular septal defect (91%) and a functionally univentricular circulation (71%). LAI was associated with polysplenia (100%) and complete heart block in 3 patients (19%). Surgical pathways included repair of anomalous pulmonary venous return (45%), Blalock Taussig shunt (60%), bidirectional cavopulmonary connection (50%) and Fontan completion (30%). ConclusionsPatients with RAI suffer high mortality and early surgical intervention, with few making it to Fontan completion. By comparison patients with LAI have less morbidity and mortality. The management of heterotaxy continues to be challenging due to widely associated cardiac and extracardiac manifestations.

PO-02-047 OUTCOMES OF CARDIOVASCULAR IMPLANTABLE ELECTRONIC DEVICE REMOVAL WITHOUT REIMPLANTATION IN PEDIATRIC PATIENTS

Patients with cardiovascular implantable electronic device (CIED) may no longer meet indications for pacing during follow up. This population represents a challenge for physicians since no guidelines stipulate acceptable indication for CIED removal without reimplantation. Little is known about the risk of significant cardiac events in children who undergo CIED removal. The present study aims to investigate the outcomes in a population having undergone CIED removal without immediate reimplantation before the age of 18 years at our institution. We retrospectively searched for consecutive patients <18 years of age who underwent CIED removal at the Hospital for Sick Children from Jan 2007 to Dec 2022. The primary outcome of significant cardiac event was defined as symptomatic bradycardia with documented high grade atrioventricular block (AVB) or sinus pause, syncope of presumed cardiac origin, ventricular arrhythmia with hemodynamic compromise, or sudden death of presumed arrhythmic etiology. Of 667 patients who underwent CIED implantation at our institution during the study period, a total of 14 (2.1%) patients (9 males [64.3%]) underwent explantation without immediate reimplantation. The majority of patients (N=9; 64.3%) had structural heart disease, with the most common indication for implantation being post-op AVB (N=5; 35.7%) followed by sinus node dysfunction (SND, N=4; 28.6%). During a median follow-up of 2.2 years (IQR 0.4–6.7), significant cardiac event occurred in 3 (21.4%) patients aged 13.5 years (IQR 6.4–17.9) at a median of 0.7 years (IQR 0.6–3.2) after explantation. Two patients had recurrence of their post-operative AVB 7 and 8 months after explantation respectively, both presenting with self-resolving syncope and documented prolonged pause on implantable loop recorder (ILR). One patient known for left atrial isomerism who had been paced for SND developed new complete AVB 3.2 years after his device has been explanted, which represented a new indication for pacing. There were no aborted or sudden death during the 48.7 patient-years of follow-up. In a small cohort of pediatric patients, CIED explantation without reimplantation was a safe practice that required careful patient selection. An ILR should be considered at the time of explant to facilitate monitoring over time. Further studies are required to identify predictive factors for cardiac events in this specific population.

Total Anomalous Pulmonary Venous Connection: Surgical Outcomes and Risk Factors for Postoperative Pulmonary Vein Obstruction.

Total anomalous pulmonary venous connection (TAPVC) is a fatal congenital cardiac anomaly that requires urgent surgical intervention. The development of postoperative pulmonary vein obstruction (PVO) negatively impacts long-term survival. The present study aimed to evaluate the surgical outcomes of TAPVC repair and risk factors associated with postoperative PVO. Patients who underwent primary TAPVC repair at our institute between 2004 and 2022 were retrospectively enrolled, and those with right atrial isomerism and single ventricle physiology were excluded. Factors associated with survival and postoperative PVO were analyzed. A total of 116 patients were enrolled in the present study. The early mortality rate was 6.9%. Nineteen patients (16.4%) developed postoperative PVO within a median time of 59 days of the primary repair, of whom 10 were successfully relieved without any recurrent obstruction. In long-term follow-up, patients with postoperative PVO had significantly lower long-term survival rates than those without postoperative PVO [57.9%, 95% confidence interval (CI) = 34.8-79.5%; vs. 90.4%, 95% CI = 83-96.6% at 10 years, p < 0.001]. Risk factors for postoperative PVO development included lower body weight, younger age, preoperative mechanical ventilation, preoperative inotrope use, and emergency operation. Postoperative PVO was significantly associated with a higher long-term mortality rate after primary TAPVC repair, with the risk being higher in patients with critical preoperative status. The long-term outcome was good for patients in whom the obstruction was successfully relieved. Early detection and prompt intervention for postoperative PVO after TAPVC repair can improve overall survival in these patients.

A Rare Case of Left Atrial Isomerism

A Rare Case of Left Atrial Isomerism

Outcomes of treatment for right atrial isomerism with functional single ventricle and extracardiac total anomalous pulmonary venous connection beyond neonatal period: Delayed surgical treatment, improving outcomes.

Total anomalous pulmonary venous connection (TAPVC) is frequently associated with right atrial isomerism (RAI), which is commonly complicated with an unbalanced atrioventricular canal with contralateral hypoplasia, complex systemic and pulmonary venous anatomy, and conotruncal abnormalities, resulting in increased risk of mortality. This study aimed to review the outcomes of delayed surgical treatment for patients with RAI complicated with functional single ventricle (FSV) and TAPVC at a single center. In this retrospective study, we reviewed the medical records of 24 consecutive patients with RAI complicated with FSV and TAPVC who underwent initial surgical palliation after 5-month old between September 2008 and June 2019. Demographic data, concomitant anomalies, age at initial palliation, and surgical interventions were extracted and analyzed using the Cox proportional hazard model to assess risk factors for mortality and the Kaplan-Meier method to assess survival. The in-hospital mortality was 12.5% (three out of 24). The causes of death were pulmonary arterial hypertension and low cardiac output syndrome. Average follow-up was 65.2 ± 40.3 months (7-137 months). Another 4 patients died during the follow-up due to low cardiac output syndrome, protein-losing enteropathy and pulmonary arterial hypertension, respectively. Kaplan-Meier estimated survival at 1 and 5 years were 83.1 and 69.4%, respectively. Fontan completion was 45.8% (11/24). The mortality for patients with pulmonary venous obstruction (PVO) was 66.7% (4/6). Cox multivariate regression analysis indicated that preoperative PVO was the only risk factor for mortality (p = 0.032; hazard ratio, 10.000; CI 1.222-81.811). Outcomes of delayed surgical treatment for patients with RAI complicated with FSV and TAPVC have improved significantly. The survival and Fontan completion were higher. However, preoperative PVO was still the risk factor for mortality.

Supracardiac total anomalous pulmonary venous connection type Ib: Morphology and outcomes

BackgroundSupracardiac total anomalous pulmonary venous connection is the most common subtype of total anomalous pulmonary venous connection. We aimed to describe the morphological spectrum of supracardiac total anomalous pulmonary venous connection and to identify risk factors for death and postoperative pulmonary venous obstruction. MethodsFrom February 2009 to June 2019, 241 patients diagnosed with supracardiac-Ia (left-sided vertical vein, n = 185) or supracardiac-Ib (right-sided connection directly to superior vena cava, n = 56) total anomalous pulmonary venous connection underwent initial surgical repair at our institute. Cases with functionally univentricular circulations or atrial isomerism were excluded. Patients' postoperative survival was described by Kaplan–Meier curves. Cox proportional hazards models and competing risk regression models were used to identify clinical risk factors for death and postoperative pulmonary venous obstruction. ResultsThere were 8 early deaths and 4 late deaths. The overall survivals at 30 days, 1 year, and 10 years were 97.1%, 94.8%, and 94.8%, respectively, in the supracardiac-Ia group (2.7%, 5/185) (hazard ratio, 4.8; P = .003). Five patients required reoperation for pulmonary venous obstruction, including 2 patients who required reintervention for superior vena cava syndromes (all in the supracardiac-Ib group). One patient required superior vena cava balloon dilation for superior vena cava syndromes. Multivariable analysis showed that the supracardiac-Ib group (12.5%, 7/56) had a significantly higher mortality rate than the supracardiac-Ia group (adjusted hazard ratio, 8.5, P = .008). Surgical weight less than 2.5 kg (adjusted hazard ratio, 10.8, P = .023), longer duration of cardiopulmonary bypass (adjusted hazard ratio, 1.15 per 10 minutes, P = .012), and supracardiac-Ib subtype (adjusted hazard ratio, 4.7, P = .037) were independent risk factors associated with death. The supracardiac-Ib subtype (adjusted hazard ratio, 4.8, P = .003) was an incremental risk factor associated with postoperative pulmonary venous obstruction. ConclusionsMorphological features of supracardiac total anomalous pulmonary venous connection, especially the supracardiac-Ib subtype, were risk factors associated with postoperative pulmonary venous obstruction and survival. Patients with unique anatomic subtypes might require more individualized surgical planning.

Нeterotaxy Syndrome in the Fetuses of the First Trimester of Pregnancy (the Spectrum of Congenital Heart Defects and Extracardiac Anomalies)

Цель исследования. Изучить спектр врожденных пороков сердца (ВПС) и экстракардиальных аномалий у плодов с синдромом гетеротаксии, абортированных в первом триместре беременности после проведения ультразвуковой пренатальной диагностики. Обсудить вопрос актуальности имеющихся классификаций синдромов гетеротаксий.Материалы и методы. Сонография проводилась на аппарате Voluson 730 Expert с использованием трансабдоминального (4–8 МГц) датчика. Нозологический диагноз установлен по результатам патоморфологического исследования плодов в первом триместре.Результаты. Представлены 7 наблюдений синдрома гетеротаксии у плодов в первом триместре. Соотношение полов (мужской/женский) составило 2,5:1. Правопредсердный изомеризм установлен в 57,0% случаев (4/7), левопредсердный – в 1 наблюдении, 2 случая были с неопределенным изомеризмом. Декстрокардия наблюдалась в 57,0% случаев (4/7), левокардия – в 43,0%. Наиболее частыми ВПС явились единственный желудочек сердца с атрезией/стенозом легочного ствола и двойное отхождение магистральных сосудов из правого желудочка со стенозом легочного ствола. Гигрома шеи наблюдалась в 2 случаях, увеличение толщины воротникового пространства до 3 МоМ – в одном наблюдении. Аспления диагностирована в 43,0% случаев (3/7), полиспления – в 28,5% наблюдений. В 2/7 случаях аномалий селезенки не выявлено. Выводы. Существующие классификации пациентов с СГ – по состоянию селезенки или по морфологии ушек предсердий – часто не соответствуют ожидаемой картине сердечных и экстракардиальных аномалий. Основная задача заключается в точном описании сложных пороков сердца и всех висцеральных проявлений при синдроме гетеротаксии, в том числе у плодов в первом триместре. Purpose. To explore the spectrum of congenital heart defects and extracardiac anomalies in the fetus of the first trimester of pregnancy with heterotaxy syndrome.Materials and methods. Sonography was performed on a Voluson 730 Expert using a transabdominal (4–8 MHz) sensor. The nosological diagnosis is established by the result of pathomorphological studies in the first trimester.Results. We present 7 case of heterotaxy syndrome in the fetuses of the first trimester. The sex ratio (male/female) was 2.5:1. Right atrial isomerism diagnosed in 57% cases (4/7), left atrial isomerism – in 1 case. 2 cases were indefinite isomerism. Dextrocardia presented in 57% cases (4/7). Most common heart defect was single ventricle с L-transposition of the great arteries with atresia/stenosis pulmonary artery and double outlet right ventricle with stenosis pulmonary artery. Asplenia present in the majority of cases (3/7), polysplenia (2/7), normal (2/7). Fetal hydrops, hygroma – 2/7.Conclusions. Actual 2 most common methods of classifying patients with heterotaxy – based on the status of the spleen or on the morphology of the atrial appendages – is frequently incongruent with the expected pattern of cardiac and noncardiac anomalies. The study emphasizes the importance of an individualized approach to diagnosis based a systematic segment-by-segment analysis of each part of the cardiovascular system and noncardiac anomalies including in the first trimester of pregnancy.