Prenatal diagnosis, associated findings and postnatal outcome in fetuses with congenitally corrected transposition of the great arteries.

PURPOSE: To analyze anatomic features and associated malformations in 37 prenatally detected cases of congenitally corrected transposition of the great arteries (ccTGA) and to evaluate the prenatal course, neonatal outcome and mid-term follow-up. METHODS: Retrospective analysis of prenatal ultrasound of 37 patients with ccTGA in two tertiary centers between 1999 and 2019. All fetuses received fetal echocardiography and a detailed anomaly scan. Postnatal outcome and follow-up data were retrieved from pediatric reports. RESULTS: Isolated ccTGA without associated cardiac anomalies was found in 13.5% (5/37), in all other fetuses additional defects such as VSD (73.0%), pulmonary obstruction (35.1%), tricuspid valve anomalies (18.9%), aortic arch anomalies (13.5%), ventricular hypoplasia (5.4%) or atrioventricular block (5.4%) were present. The rate of extracardiac malformations or chromosomal aberrations was low. There were 91.9% (34/37) live births and postnatal survival rates reached 91.2% in a mean follow-up time of 4.98 years. The prenatal diagnosis of ccTGA was confirmed postnatally in all but one documented live birth and the prenatal counselling regarding the expected treatment after birth (uni- versus biventricular repair) was reassured in the majority of cases. The postnatal intervention rate was high, 64.7% (22/34) received surgery, the intervention-free survival was 36.7%, 35.0% and 25.0% at 1 month, 1 year and 10 years, respectively. CONCLUSIONS: ccTGA is a rare heart defect often associated with additional heterogeneous cardiac anomalies that can be diagnosed prenatally. The presented study demonstrates a favorable outcome in most cases but the majority of patients require surgical treatment early in life.

Congenitally corrected transposition and mitral atresia complicated by restrictive atrial septum.

Congenitally corrected transposition (ccTGA), also known as L-transposition of the great arteries (L-TGA), is a rare cardiac malformation accounting for approximately 0.05% of congenital heart disease, characterized by ventricular inversion, discordant ventriculo-arterial connections with a normal visceroatrial relationship. It was first described by Baron Rokitansky in 1875, and prenatal sonographic diagnosis can be difficult. Symptomatology and clinical presentation of this malformation are related to the associated intracardiac defects. We report a rare case of severe, complex cardiac disease: prenatally diagnosed ccTGA with atrial restriction, mitral atresia, Ebsteinoid tricuspid valve, and severe pulmonary valve stenosis, who subsequently developed left pulmonary vein stenosis.

In congenitally corrected transposition of great arteries following Fontan surgery, a left ventricle with suprasystemic systolic and high end-diastolic pressures paradoxically preserves right ventricular and tricuspid valve function.

Systemic right ventricular function in congenitally corrected transposition depends on septal geometry. Suprasystemic left ventricular systolic pressures and high end-diastolic pressures after Fontan surgery paradoxically preserve right ventricular function.

Ventricular Function in Physiologically Repaired and Unrepaired Congenitally Corrected Transposition of the Great Arteries.

In patients with congenitally corrected transposition of the great arteries (ccTGA) and hemodynamically significant concomitant lesions, physiologic repair may be undertaken, in which the circulation is septated but the morphologic right ventricle (RV) remains the systemic ventricle. Patients without significant concomitant lesions may be observed without surgery, with a similar physiologic result. We compared cardiovascular magnetic resonance measures of ventricular size and function in patients with physiologically repaired and unrepaired ccTGA. Patients with ccTGA who underwent cardiovascular magnetic resonance at our center between September 2007 and July 2019 were analyzed. In 38 patients identified (12, physiologically repaired; 26, unrepaired; mean age 34.5 [18.7 to 52.0] years), there was a higher proportion of RV ejection fraction ≤45% in physiologically repaired (75% vs unrepaired 35%, p = 0.02). Physiologically repaired patients had worse left ventricle global longitudinal strain (-14.9% ± 5.0% vs unrepaired patients -18.4% ± 2.7%, p = 0.04). The difference in tricuspid regurgitant fraction between groups did not achieve statistical significance (physiologically repaired 27.4 ± 11.1% vs unrepaired patients 19.2 ± 13.0%, p = 0.08). Evaluation for late gadolinium enhancement was more commonly undertaken in physiologically repaired patients (8 of 12 vs unrepaired 7 of 26, p = 0.03) and present more frequently in the left ventricle in physiologically repaired patients in patients evaluated (6 of 8 vs unrepaired 0 of 7, p = 0.01). In conclusion, ventricular function is decreased in patients with ccTGA undergoing physiologic repair compared with those without previous surgery. These cohorts should be considered separately when using ventricular function as an outcome. RV dysfunction is concerning for long-term outcomes following physiologic repair.

Outcomes of treatment pathways in 240 patients with congenitally corrected transposition of great arteries.

OBJECTIVE: Congenitally corrected transposition of the great arteries (ccTGA) encompasses a diverse morphologic cohort, for which multiple treatment pathways exist. Understanding surgical outcomes among various pathways and their determinants are challenged by limited sample size and follow-up, and heterogeneity. We sought to investigate these questions with a large cohort of ccTGA patients presenting at different ages and representing the full therapeutic spectrum. METHODS: Retrospective review of 240 patients diagnosed with ccTGA from Cleveland Clinic coupled with prospective cross-sectional follow-up. Forty-six patients whose definitive procedure was completed elsewhere were excluded. Time-related survival was described among treatment pathways using actuarial, time-varying covariate, and competing risks analyses. Temporal trends in longitudinal valve and ventricular function were assessed using nonlinear mixed-effects models. RESULTS: Median follow-up was 10 years. Seventy-nine patients with ccTGA underwent anatomic repair, 45 physiologic repair, 24 Fontan palliation, and 6 primary transplant. Forty patients managed expectantly had excellent long-term survival when considered from time of presentation, but benefited from failures captured following transition to physiologic repair or transplant. Morphologic right ventricular dysfunction after physiologic repair increased from 68% to 85% after 5 years, whereas morphologic left ventricular function was stable in anatomic repair, especially with early surgery. Transplant-free survival at 15 years for anatomic and physiologic repair was 80% and 71%, respectively. CONCLUSIONS: Early anatomic repair may be preferable to physiologic repair for select ccTGA patients. Late attrition after physiologic repair represents failure of expectant management and progressive tricuspid valve and morphologic right ventricular dysfunction compared with anatomic repair, where morphologic left ventricular function is relatively preserved.

Continuous-Flow Left Ventricular Assist Device Therapy in Adults with Transposition of the Great Vessels.

An increasing number of children with congenital heart disease are surviving into adulthood and subsequently developing end-stage heart failure. Two example populations are adults who have been previously operated on for congenitally corrected transposition of the great arteries (CCTGA) and transposition of the great arteries (TGA). Implantation of a continuous flow left ventricular assist device (CF-LVAD) in these patients can present unusual anatomical and physiologic challenges. In this report, we describe outcomes of CF-LVAD implantation in three such patients. These cases demonstrate the feasibility of implanting a CF-LVAD in patients who have undergone surgery for CCTGA and/or TGA.

Incidental congenitally corrected transposition of the great arteries (ccTGA) in an adult with suspected coronary artery disease: review on radiological features and pathophysiology.

We report a case of a 46-year-old woman who has presented to a peripheral hospital with progressive exertional dyspnoea and chest discomfort. The resting ECG showed features of left-sided ventricular hypertrophy. The initial chest radiograph was reported as cardiomegaly. Initial echocardiography revealed left atrial dilatation and 'left ventricular' hypertrophy with normal ejection fraction. She was treated as possible coronary artery disease and was subsequently referred to our centre for CT coronary angiography. Findings from the CT scan were consistent with congenitally corrected transposition of the great arteries (ccTGA). This report describes the radiological features of ccTGA, its associated cardiovascular anomalies, pathophysiology and potential complications.

Late Presentation of a Congenitally Corrected Transposition of Great Arteries and Hemodynamically Balanced Ventricles Associated with a Large Ventricular Septal Defect and Severe Pulmonary Stenosis: A Case Report and a Multi-Imaging Approach.

BACKGROUND Congenitally corrected transposition of great arteries (ccTGA) represents a distinct rare group of congenital heart diseases. Survival of unoperated ccTGA in the presence of large ventricular septal defect (VSD) is exceptional. Furthermore, late presentation of such patients in the absence of severe pulmonary hypertension or severe systemic right ventricle dysfunction is unusual. CASE REPORT We report a rare late presentation of ccTGA associated with large VSD in the absence of severe pulmonary hypertension or systemic ventricle dysfunction. An associated severe pulmonary valve stenosis maintained a balanced and stable condition up to the fourth decade of life. The patient has also dextrocardia, which is an unusual association. The diagnosis was reached using multimodality imaging including transthoracic echocardiogram (TTE), transesophageal echography (TEE), cardiac magnetic resonance imaging (CMR), and cardiac computed tomography (cardiac CT). CONCLUSIONS The presence of pulmonary stenosis can provide a physiological protection that avoids unnecessary surgical correction of large VSD in ccTGA patients. However, such a decision should be made on an individual basis and following a careful anatomical and functional evaluation.

Effectiveness of Bidirectional Glenn Shunt Placement for Palliation in Complex Congenitally Corrected Transposed Great Arteries.

Surgery for complex congenitally corrected transposed great arteries is one of the greatest challenges in cardiovascular surgery. We report our experience with bidirectional Glenn shunt placement as a palliative procedure for complex congenitally corrected transposition. We retrospectively identified 50 consecutive patients who had been diagnosed with congenitally corrected transposition accompanied by left ventricular outflow tract obstruction and ventricular septal defect and who had then undergone palliative bidirectional Glenn shunt placement at our institution from January 2005 through December 2014. Patients were divided into 3 groups according to subsequent surgeries: Fontan completion (total cavopulmonary connection, 13 patients) (group 1), anatomic repair (hemi-Mustard and Rastelli procedures without Glenn takedown, 11 patients) (group 2), and prolonged palliation (no further surgery, 26 patients) (group 3). After shunt placement, no patient died or had ventricular dysfunction. Overall, mean oxygen saturation increased significantly from 79.5% ± 13.5% preoperatively to 94.1% ± 7.3% (P <0.001). The median time from shunt placement to Fontan completion and anatomic repair, respectively, was 2.1 years (range, 1.6-5.2 yr) and 1.1 years (range, 0.6-2.4 yr). Only 2 late deaths occurred, both in group 1. In group 3, time from shunt placement to latest follow-up was 4.5 years (range, 2.3-8 yr). At latest follow-up, mean oxygen saturation was 91.6% ± 10.3%, and no patients had impaired ventricular function. Bidirectional Glenn shunt placement as an optional palliative procedure for complex congenitally corrected transposition has favorable outcomes. Later, patients can feasibly be treated by Fontan completion or anatomic repair. Use of a bidirectional Glenn shunt for open-ended palliation is also acceptable.

Left ventricular retraining in corrected transposition: Relationship between pressure and mass.

BACKGROUND: A subset of patients with corrected transposition of the great arteries (CC-TGA) will require left ventricular (LV) retraining before undergoing a double-switch procedure. LV retraining results in an immediate increase in LV pressure but not in LV mass. The purpose of this study was to evaluate the relationship between LV pressure and mass during LV retraining. METHODS: This was a retrospective review of 36 patients with CC-TGA who were enrolled in LV retraining. The median age at enrollment was 12 months. The majority (82%) had an Ebstenoid tricuspid valve or moderate to severe tricuspid valve regurgitation before pulmonary artery banding. RESULTS: Twenty-seven of the 36 patients underwent LV retraining and a double switch, including 14 patients with a single pulmonary artery band (PAB), 12 patients with 2 PABs, and 1 patient with 3 PABs. There was no early or late mortality associated with these procedures. Ninety percent of the patients demonstrated a linear relationship between LV pressure and mass; however, 3 patients (10%) demonstrated a different LV retraining pattern characterized by excess LV mass compared to LV pressure. Two of these 3 patients are LV retraining failures, whereas the third patient did undergo a double switch. CONCLUSIONS: The data show that the majority of patients enrolled in LV retraining have a predictable relationship between LV mass and pressure. A minority demonstrate an excess accrual of mass with respect to pressure load. These results suggest there may be an important distinction between normal and pathological hypertrophy during the LV retraining process.

Hemodynamically balanced congenitally corrected transposition of the great arteries with a large ventricular septal defect, and subvalvular pulmonic stenosis: a case report.

BACKGROUND: Adults with unoperated congenitally corrected transposition of the great arteries are rare but form a distinct group among adults with congenital heart disease. Patients with congenitally corrected transposition of the great arteries often have one or more associated cardiac anomalies that dictate the need for, and timing of, surgical intervention in childhood. However, in a proportion of patients, the hemodynamics does not require surgical attention during childhood, and, in some patients, a correct diagnosis is not established until adulthood. Here we report an adult case of unoperated congenitally corrected transposition of the great arteries with a large ventricular septal defect and probable pulmonary arterial hypertension. CASE PRESENTATION: Our patient was a 46-year-old Korean man. Transthoracic echocardiography and cardiac catheterization demonstrated hemodynamically balanced ventricles with a non-regurgitant systemic atrioventricular valve, normal pulmonary arterial pressure, and a reasonable difference between the oxygen saturation values of the aorta and pulmonary trunk, even with the presence of a large ventricular septal defect. Further morphological assessments using cardiac computed tomography and three-dimensional modeling/printing of his heart revealed that the mitral valve was straddling over the posteriorly positioned ventricular septal defect, which could explain the functional and anatomical subvalvular pulmonary stenosis and a small amount of shunt flow through the large ventricular septal defect. We interpreted this combination of cardiac defects as able to sustain his stable cardiac function. Thus, we decided to maintain his unoperated status. CONCLUSION: A detailed anatomical understanding based on transthoracic echocardiography, cardiac computed tomography, and three-dimensional printing can justify a decision to not operate in cases of congenitally corrected transposition of the great arteries with hemodynamically balanced pulmonary stenosis and a ventricular septal defect, as observed in the present case.

Congenitally corrected transposition of the great vessels: evaluation with cardiac magnetic resonance imaging after double-switch repair. / Transposición congénitamente corregida de grandes arterias: valoración por resonancia magnética cardíaca tras corrección anatómica tipo "doble switch".

Congenitally corrected transposition of the great vessels implies double discordance: atrioventricular and ventriculoarterial. We present cardiac magnetic resonance images from a 9-year-old girl with congenitally corrected transposition of the great vessels, interventricular communication, and coarctation of the aorta who was treated with pulmonary artery banding, correction of coarctation, and posterior double switch. We also review the disease and the complications that should be evaluated after the surgical intervention.

Exploring the Prognostic Value of Novel Markers in Adults With a Systemic Right Ventricle.

Background Adults with a systemic right ventricle (sRV) have a high risk of cardiac complications. This study aimed to identify prognostic markers in adults with sRV based on clinical evaluation, echocardiography, and blood biomarkers. Methods and Results In this prospective cohort study, consecutive clinically stable adults with sRV caused by Mustard- or congenitally corrected transposition of the great arteries were included (2011-2013). Eighty-six patients were included (age 37±9 years, 65% male, 83% New York Heart Association functional class I, 76% Mustard transposition of the great arteries, 24% congenitally corrected transposition of the great arteries). Venous blood sampling was performed including N-terminal pro B-type natriuretic peptide, high-sensitive-troponin-T, high-sensitivity C-reactive protein, growth differentiation factor-15, galectin-3, red cell distribution width, estimated glomerular filtration rate, and hemoglobin. Besides conventional echocardiographic measurements, longitudinal, circumferential, and radial strain were assessed using strain analysis. During a median follow-up of 5.9 (interquartile range 5.3-6.3) years, 19 (22%) patients died or had heart failure (primary end point) and 29 (34%) patients died or had arrhythmia (secondary end point). Univariable Cox regression analysis was performed using dichotomous or standardized continuous variables. New York Heart Association functional class >I, systolic blood pressure, and most blood biomarkers were associated with the primary and secondary end point (galectin-3 not for primary, N-terminal pro B-type natriuretic peptide and high-sensitivity C-reactive protein not for secondary end point). Growth differentiation factor-15 showed the strongest association with both end points (hazard ratios; 2.44 [95% CI 1.67-3.57, P<0.001], 2.00 [95% CI 1.46-2.73, P<0.001], respectively). End-diastolic basal dimension of the subpulmonary ventricle was associated with both end points (hazard ratio: 1.95 [95% CI 1.34-2.85], P<0.001, 1.70 [95% CI 1.21-2.38, P=0.002], respectively). Concerning strain analysis, only sRV septal strain was associated with the secondary end point (hazard ratio 0.58 [95% CI 0.39-0.86], P=0.006). Conclusions Clinical, conventional echocardiographic, and blood measurements are important markers for risk stratification in adults with a sRV. The value of novel echocardiographic strain analysis seems limited.