Percutaneous closure of an atrial septal defect in adult patients with congenitally corrected transposition of the great arteries.

Congenitally corrected transposition of great arteries is a rare anomaly which are responsible for 0.5% of all CHDs and can be associated with other congenital cardiac abnormalities. Association of congenitally corrected transposition of great arteries and isolated atrial septal defect is a very rare condition, and management of this association is challenging. In this paper, we describe three patients with congenitally corrected transposition of great arteries and isolated atrial septal defect who were admitted to our clinic and all of them underwent percutaneous closure of defect. From 2017 to 2020, we visited three patients with congenitally corrected transposition of great arteries and isolated atrial septal defect. Our patients' ages ranged from 28 to 38 years. All of them underwent percutaneous atrial septal defect device closure without any complications. Patients were discharged from hospital in good condition with a daily dose of Aspirin 80 mg and Plavix 75 mg. For all of them, follow-up echocardiography was performed the day after the procedure at 1, 3, and 6 months later and showed the function of the right-sided left ventricle improvement and the severity of the mitral regurgitation was reduced. Furthermore, clinical evaluation also indicated functional class improvement. Although the cases of percutaneous transcatheter closure are few and cannot be regarded as strong evidence to recommend this procedure, the outcomes are promising and can demonstrate that this approach is practical.

Does Coronary Reimplantation After Neoaortic Reconstruction Increase Aortic Regurgitation?

Coronary reimplantation after neoaortic reconstruction (CRANR) in the arterial switch operation (ASO) allows easy selection of accurate coronary transfer sites in the distended neoaorta. However, neoaortic valve injury may occur during coronary reimplantation. We determined whether the CRANR procedure increased the incidence of aortic valve regurgitation (AR) after ASO. Between March 1994 and August 2017, 227 patients underwent ASO. Since September 2000 CRANR has been performed on 155 patients and open coronary reimplantation (OCR) on 72. Patients who had undergone aortocoronary flaps procedures (n = 13), had early or late mortality (n = 27), or lacked data (n = 11) were excluded. We enrolled and retrospectively reviewed the medical records of 176 patients who were followed up for postoperative AR: 38 underwent OCR and 138 underwent CRANR. We compared the incidences of early and late postoperative AR in both groups. We defined mild or greater AR as "significant AR." The groups did not differ in body weight at operation, great artery relationship, and coronary artery anatomy. The incidences of significant AR at discharge were 21.1% (8/38) in the OCR group and 16.6% (23/138) in the CRANR group (p = 0.53). The freedom from significant AR at 5 years was 59.9% in the OCR group and 62.4% in the CRANR group with no difference between the two groups (p = 0.73). Moderate AR occurred in one patient in the CRANR group. No surgical intervention was required for the aortic valve in either group. ASO using the CRANR technique did not increase the incidence of postoperative early and late AR.

Pulmonary haemorrhage due to an aortopulmonary collateral artery after arterial switch.

A neonate with transposition of the great arteries and intact ventricular septum presented without pulmonary over-circulation, and subsequently developed pulmonary haemorrhage after corrective surgery. Postoperative CT revealed an aortopulmonary collateral artery arising from the descending aorta, and we performed successful embolisation on postoperative day 9. Aggressive imaging modalities such as angiography and/or CT imaging with contrast can detect unexpected extra-pulmonary blood supply and guide further management.

Pathogenesis and Surgical Treatment of Dextro-Transposition of the Great Arteries (D-TGA): Part II.

Dextro-transposition of the great arteries (D-TGA) is the second most common cyanotic heart disease, accounting for 5-7% of all congenital heart defects (CHDs). It is characterized by ventriculoarterial (VA) connection discordance, atrioventricular (AV) concordance, and a parallel relationship with D-TGA. As a result, the pulmonary and systemic circulations are separated [the morphological right ventricle (RV) is connected to the aorta and the morphological left ventricle (LV) is connected to the pulmonary artery]. This anomaly is included in the group of developmental disorders of embryonic heart conotruncal irregularities, and their pathogenesis is multifactorial. The anomaly's development is influenced by genetic, epigenetic, and environmental factors. It can occur either as an isolated anomaly, or in association with other cardiac defects. The typical concomitant cardiac anomalies that may occur in patients with D-TGA include ventriculoseptal defects, patent ductus arteriosus, left ventricular outflow tract obstruction (LVOTO), mitral and tricuspid valve abnormalities, and coronary artery variations. Correction of the defect during infancy is the preferred treatment for D-TGA. Balloon atrial septostomy (BAS) is necessary prior to the operation. The recommended surgical correction methods include arterial switch operation (ASO) and atrial switch operation (AtrSR), as well as the Rastelli and Nikaidoh procedures. The most common postoperative complications include coronary artery stenosis, neoaortic root dilation, neoaortic insufficiency and neopulmonic stenosis, right ventricular (RV) outflow tract obstruction (RVOTO), left ventricular (LV) dysfunction, arrhythmias, and heart failure. Early diagnosis and treatment of D-TGA is paramount to the prognosis of the patient. Improved surgical techniques have made it possible for patients with D-TGA to survive into adulthood.

Overview of Long-Term Outcome in Adults with Systemic Right Ventricle and Transposition of the Great Arteries: A Review.

The population of patients with a systemic right ventricle (sRV) in biventricular circulation includes those who have undergone an atrial switch operation for destro-transposition of the great arteries (d-TGA) and those with congenitally corrected transposition of the great arteries (ccTGA). Despite the life expectancy of these patients is significantly increased, the long-term prognosis remains suboptimal due to late complications such as heart failure, arrhythmias, and premature death. These patients, therefore, need a close follow-up to early identify predictive factors of adverse outcomes and to implement all preventive therapeutic strategies. This review analyzes the late complications of adult patients with an sRV and TGA and clarifies which are risk factors for adverse prognosis and which are the therapeutic strategies that improve the long-term outcomes. For prognostic purposes, it is necessary to monitor sRV size and function, the tricuspid valve regurgitation, the functional class, the occurrence of syncope, the QRS duration, N-terminal pro B-type natriuretic peptide levels, and the development of arrhythmias. Furthermore, pregnancy should be discouraged in women with risk factors. Tricuspid valve replacement/repair, biventricular pacing, and implantable cardioverter defibrillator are the most important therapeutic strategies that have been shown, when used correctly, to improve long-term outcomes.

A Non-coding HES1 Variant Predisposes Children to Congenital Heart Disease in Chinese Population.

Background: As a key component in the NOTCH signaling pathway, HES1 plays an important role in vertebrate heart development. Variants in the HES1 coding sequence are known to be associated with congenital heart disease (CHD). However, little is known about HES1 non-coding sequence variants and their association with the risk of developing CHD. Method and Results: We initially analyzed the non-coding sequence of the HES1 gene in 12 unrelated CHD families by direct sequencing and identified a previously unreported promoter region variant (NM_005524.4: c.-1279-1278 insAC, rs148941464) in the HES1 gene in four CHD families. The homozygous variant in patients was inherited from carrier parents with normal phenotypes, indicating a likely recessive genetic model. Given that the HES1 gene is predicted to be likely to exhibit haploinsufficiency (%HI: 11.44), we hypothesized that the HES1 homozygous variant is a genetic risk factor underlying CHD. We then carried out sequencing of this HES1 variant in 629 sporadic non-syndromic CHD cases and 696 healthy controls and performed association analysis. Interestingly, we observed a significant association of the homozygous HES1 promoter variant with CHD (18.92% of cases vs. 9.91% of controls; OR: 2.291, 95% CI: 1.637-3.207, p = 9.72 × 10-7). No significant association with CHD was observed for the HES1 promoter heterozygous variant (p > 0.05). However, association analysis tests of the HES1 homozygous variant with each subtype of CHD revealed that this homozygous variant was strongly associated with transposition of the great arteries (TGA) (OR: 3.726, 95% CI: 1.745-7.956, p = 0.0003). Moreover, the prevalence of HES1 homozygous variants in CHD patients with TGA (27.66%) was significantly higher than that in patients with other CHD subtypes or controls. Similar results were observed in a replication group of TGA (n = 64). Functional studies demonstrated that the homozygous variant in the HES1 promoter can disrupt its ability to bind RXRA, an inhibitory transcription factor, which results in abnormally high expression of the HES1 gene, indicating that this variant harbors gain-of-function effects. Conclusions: Our findings reveal that the non-coding homozygous variant in the HES1 promoter has a gain-of-function effect and is associated with an increased risk of CHD development, especially the severe TGA subtype.

Adverse impact of univentricular pacing for the patient with functional single ventricle: successful conversion to cardiac resynchronization therapy.

BACKGROUND: In a Fontan candidate, univentricular pacing may cause delay in interventricular conduction, which induces asynchronous contraction. Cardiac resynchronization therapy is expected to be an effective mode of therapy in such a case. CASE PRESENTATION: A 7-month-old girl, diagnosed with dextrocardia, congenitally corrected transposition of the great artery [situs solitus, L-loop, and L-transposition], ventricular septal defect, infundibular and pulmonary valvular stenosis, and straddling of the tricuspid valve, was considered as a candidate for the Fontan procedure. She had undergone Blalock-Taussig shunt, and epicardial univentricular pacemaker implantation for persistent complete atrioventricular block. She underwent a bidirectional cavopulmonary shunt concomitant with ventricular lead translocation from the morphological left ventricle to the morphological right ventricle. After discharge, ventricular dyssynchrony was noted and cardiac failure persisted. She was converted to cardiac resynchronization therapy (CRT) at 13 months of age. Two-dimensional speckle tracking imaging was used by cardiologists to determine the most suitable pacing site. CRT rapidly corrected the heart failure; thus, she underwent the Fontan procedure after 1.5 years. Five years have passed since the cardiac resynchronization therapy; her interventricular synchrony is maintained well and the level of brain natriuretic peptide remains within normal range. CONCLUSION: We describe the successful conversion from single ventricular pacing to CRT, in a case of congenitally corrected transposition of the great artery indicated for the Fontan procedure. The long-term prognosis of cardiac resynchronization therapy is undetermined in the pediatric population; therefore, further follow-up is required.

Transposition of great arteries with natural partial Senning: A rare case report.

The association of transposition of the great arteries (TGA) and anomalous pulmonary venous connection is extremely rare. Children with transposition of the great arteries improved dramatically with the advent of the atrial repair. In this report, we describe a 40-day old male infant with TGA and associated anomalous pulmonary venous connection who presented with the history of cyanosis and hurried breathing. This patient underwent successful balloon atrial septostomy and discharged with uneventful recovery.