The objective of this study was to understand and measure epigenetic changes associated with the occurrence of CHDs by utilizing the discordant monozygotic twin model. A unique set of monozygotic twins discordant for double-outlet right ventricles (DORVs) was used for this multiomics study. The cardiac and muscle tissue samples from the twins were subjected to whole genome sequencing, whole genome bisulfite sequencing, RNA-sequencing and liquid chromatography-tandem mass spectrometry analysis. Sporadic DORV cases and control fetuses were used for validation. Global hypomethylation status was observed in heart tissue samples from the affected twins. Among 36,228 differentially methylated regions (DMRs), 1097 DMRs involving 1039 genes were located in promoter regions. A total of 419 genes, and lncRNA–mRNA pairs involved 30 genes, and 62 proteins were significantly differentially expressed. Multiple omics integrative analysis revealed that five genes, including BGN, COL1A1, COL3A1, FBLN5, and FLAN, and three pathways, including ECM-receptor interaction, focal adhesion and TGF-β signaling pathway, exhibited differences at all three levels. This study demonstrates a multiomics profile of discordant twins and explores the possible mechanism of DORV development. Global hypomethylation might be associated with the risk of CHDs. Specific genes and specific pathways, particularly those involving ECM–receptor interaction, focal adhesion and TGF–β signaling, might be involved in the occurrence of CHDs.

Objective: The aim of this study was to determine developmental enamel defects and dental treatment conditions in children with congenital heart disease by comparing them with a control group of healthy children. Methods: Children included in the study were referred to a paediatric dentistry for dental examination and treatment after undergoing routine examination in a paediatric clinic. Results: The congenital heart disease group included 72 children and the control group included 56 healthy children. Children in the age group of 3–14 years were included in this study. The mean age of the congenital heart disease group and control group was 6.24±2.85 and 6.73±3.01, respectively. The mean values of the decayed, missing, and filled indices for primary and permanent teeth in the congenital heart disease group were 2.80±3.77 and 0.81±1.63, respectively. In the control group, the values were 1.87±3.31 and 0.72±1.46, respectively. The care score for primary teeth was 3.6% in the congenital heart disease group and 13.3% in the control group. The enamel defect was detected in at least one permanent tooth in seven out of 72 children (9.7%) in the congenital heart disease group and in three out of 56 children (5.3%) in the control group. Conclusion: Although there was no significant difference in the development of dental caries or the prevalence of enamel defects between children with congenital heart disease and healthy children, the care score was low in children with congenital heart disease. In addition, children with congenital heart disease had a higher rate of pulled primary teeth and delayed treatment of decayed teeth.

We report a case of fistula between the descending aorta and the left atrium with associated aortopulmonary window and secundum atrial septal defect. No previous reports of such association have been found in the literature. A 5-month-old infant presented with heart failure from the age of 2 weeks. Echocardiography confirmed the presence of an aorto–left atrial fistula, aortopulmonary window, and atrial septal defect. The diagnosis was additionally supported by computed tomography. The entity aorto–left atrial fistula is rare. It is mostly acquired and usually between the ascending aorta and the right atrium or right ventricle or left ventricle. We do not know about all the associated anomalies, which have implications in management. There is a case report of ascending aorto–left atrial fistula associated with bicuspid aortic valve and anomalous origin of coronaries. Here we are reporting a case of descending aorto–left atrial fistula associated with aortopulmonary window.

Numerous investigations have addressed the most appropriate anatomical structures to be used for the identification of segmental arrangement (“situs”). Variations from normal have been termed “heterotaxy syndromes”. The assumption is frequently made that, in such instances, all the organs in a given individual case follow the same rules for segmental morphology. This leads to confusion. The starting point for cardiac analysis is the structure of the atriums. On this basis, we can define viscero-atrial discordance when, in usual arrangement, mirror imagery, and heterotaxy, the atriums and their appendages are no longer concordant with the remaining thoracic and abdominal organs. With this in mind, we examined a large number of autopsied specimens to identify all possible variations of thoracic structures and abdominal organs relative to atrial arrangement. We analyzed 1100 malformed hearts. Of these, 1046 had usual arrangement with normally situated heart (95%); 10 cases had usual arrangement with right-sided heart (0.90%); 25 showed mirror imagery (2.27%), and 19 were found with heterotaxy (1.72%). There was a total of 54 hearts of usual arrangement with right-sided heart, mirror imagery and heterotaxy, (4.90%) and, amongst them, 17 showed viscero-atrial discordances (31.48%). In those having usual arrangement with right-sided heart, there were 2 cases (20%); 8 in those with mirror imagery (32%); and 7 in heterotaxy (36.8%). In the 1046 cases of usual arrangement with normally situated heart, there were 12 examples of viscero-atrial discordances (1.14%). In all, we found a total of 29 cases of viscero-atrial discordances. Taken together, the discordances are best dealt with by describing separately, in every case of normal or abnormal atrial arrangement, the thoracic structures, the atrial appendages, and the abdominal organs. In the final analysis, the diagnosis of the cardiac arrangement rests on the location and morphology of the atriums and their appendages.

among the operations which lead to a partial rerouting of the systemic venous return into the pulmonary arteries, the bidirectional cavopulmonary anastomosis is frequently utilised in the staged surgical management of patients with functionally univentricular hearts. whereas some surgeons insist on closing any other source of pulmonary blood flow while performing a bidirectional cavopulmonary anastomosis, others maintain patency of either a stenosed native pulmonary outflow tract, or of a systemic-to-pulmonary arterial shunt. it remains controversial as to whether an additional source of pulmonary arterial blood flow can safely and usefully be left at the time of the bidirectional cavopulmonary anastomosis to increase systemic saturation, or whether it should be eliminated to reduce the volume load on the ventricle.

the norwood procedure involves three separate stages of operative corrections. the first stage involves re-fashioning the pulmonary trunk into a neo-aorta so that it is possible to establish an unrestricted systemic circulation. an interpositional, or systemic-to-pulmonary arterial, shunt is then created between the neo-aorta and the pulmonary arteries to allow pulmonary perfusion and gas exchange. two of the available options for the systemic-to-pulmonary shunt are the central shunt and the right modified blalock-taussig shunt. in the setting of a central shunt, pulmonary perfusion is derived from a conduit placed between the pulmonary arterial bed and the neo-aorta whereas, in the modified blalock-taussig shunt, the conduit is interposed between one of the pulmonary arteries and the brachiocephalic artery. in subsequent stages, pulmonary perfusion is provided directly by deoxygenated blood. this is achieved by connecting, first, the superior caval vein, and then the inferior caval vein, to the pulmonary arteries. it is usually during the second stage that the systemic-to-pulmonary shunt is removed.