Modified technique for coarctation of aorta with hypoplastic distal aortic arch.

BACKGROUND: A combination of coarctation of aorta with various severity of distal arch hypoplasia frequently occurs in newborns. Traditional techniques in the neonatal period such as extended end-to-end anastomosis or inner curve patch are controversial. Arch geometry has a marked role in long-term outcomes. We introduce a modified Amato technique of distal aortic arch enlargement with native tissue-to-tissue reconstruction. METHODS: Neonatal patients with coarctation of aorta and distal aortic arch hypoplasia who underwent surgical reconstruction using this technique between January 2016 and December 2019 in our center were included. Patients with concomitant complex heart defects were excluded. Data were obtained from echo protocols, CT scans before and after repair. The dimensions of the arch were assessed using Z-score, arch geometry was evaluated with height/width ratio. RESULTS: Thirty-two patients (22 males, 10 females) were included. Median age and weight were 7 days (5; 18) and 3.5 kg (3.1; 4.0), respectively. The Z-score of distal part of the arch before and after procedure was significantly different (<0.01). No mortality, recoarctation, or bronchial compression was found during 18 (6-38) months of follow-up. CONCLUSION: Modified technique for coarctation of aorta with hypoplastic distal aortic arch provides favorable geometry of the aorta with a low risk of morbidity. The proper selection and accurate technique could minimize potential risks. This method is relatively safe and might improve long-term outcomes associated with the geometry of aorta.

Dysregulation of Notch signaling in cardiac mesenchymal cells of patients with tetralogy of Fallot.

BACKGROUND: Tetralogy of Fallot (TF) is a severe congenital defect of heart development. Fine-tuned sequential activation of Notch signaling genes is responsible for proper heart chamber development. Mutations in Notch genes have been associated with TF. The aim of this study was to analyze the activity of the Notch pathway in cardiac mesenchymal cells derived from ventricular tissue of TF patients. METHODS: Cardiac mesenchymal cells were isolated from 42 TF patients and from 14 patients with ventricular septal defects (VSDs), used as a comparison group. The Notch pathway was analyzed by estimating the expression of Notch-related genes by qPCR. Differentiation and proliferation capacity of the cells was estimated. RESULTS: The TF-derived cells demonstrated a dysregulated pattern of Notch-related gene expression comparing to VSD-derived cells. Correlation of Notch signaling activation level by HEY1/HES1 expression level with proliferation and cardiogenic-like differentiation of cardiac mesenchymal cells was observed but not with clinical parameters nor with the age of the patients. CONCLUSIONS: The data suggest a contribution of dysregulated Notch signaling to the pathogenesis of tetralogy of Fallot and importance of Notch signaling level for the functional state of cardiac mesenchymal cells, which could be critical considering these cells for potential cell therapy approaches.

3D-printing in preoperative planning in neonates with complex congenital heart defects.

The application of the 3D printing approach in medicine is currently becoming increasingly popular. The management of fetuses and newborns with congenital heart defects is often difficult, primarily due to the complexity of the anatomy. Here we report a newborn with a complex congenital malformation (absent pulmonary valve syndrome associated with tetralogy of Fallot), which could be clinically interpreted in different ways. 3D printing allowed to elucidate the exact anatomy more precisely and direct the cardiosurgeon to a definitive treatment.

Approaches in Animal Proteins and Natural Polysaccharides Application for Food Packaging: Edible Film Production and Quality Estimation.

Natural biopolymers are an interesting resource for edible films production, as they are environmentally friendly packaging materials. The possibilities of the application of main animal proteins and natural polysaccharides are considered in the review, including the sources, structure, and limitations of usage. The main ways for overcoming the limitations caused by the physico-chemical properties of biopolymers are also discussed, including composites approaches, plasticizers, and the addition of crosslinking agents. Approaches for the production of biopolymer-based films and coatings are classified according to wet and dried processes and considered depending on biopolymer types. The methods for mechanical, physico-chemical, hydration, and uniformity estimation of edible films are reviewed.

A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.

BACKGROUND: Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a rare well-defined autosomal dominant disorder characterized by long thumbs with three phalanges combined with pre- and postaxial polydactyly/syndactyly of limbs. By now, the syndrome has been reported in several large families from different ethnic backgrounds, with a high degree of inter- and intrafamilial variability. The genome locus responsible for TPT-PS has been mapped to the 7q36.3 region harboring a long-range sonic hedgehog (SHH) regulatory sequence (ZRS). Both single-nucleotide variants and complete duplications of ZRS were shown to cause TPT-PS and similar limb phenotypes. TPT-PS usually forms as isolated limb pathology not associated with additional malformations, in particular, with cardiovascular abnormalities. CASE PRESENTATION: Here we report on a rare Russian neonatal case of TPT-PS combined with severe congenital heart disease, namely double outlet right ventricle, and microphthalmia with optic disc coloboma. Pedigree analysis revealed TPT-PS of various expressivity in 10 family members throughout five generations, while the cardiac defect and the eye pathology were detected only in the proband. To extend the knowledge on genotype-phenotype spectrum of TPT-PS, the careful clinical and genomic analysis of the family was performed. High-resolution array-based comparative genomic hybridization (array-CGH) revealed a ~ 300 kb microduplication of 7q36.3 locus (arr[GRCh37] 7q36.3(156385810_156684811) × 3) that co-segregated with TPT-PS in the proband and her mother. The duplication encompassed three genes including LMBR1, the intron 5 of which is known to harbor ZRS. Based on whole-exome sequencing data, no additional pathogenic mutations or variants of uncertain clinical significance were found in morbid cardiac genes or genes associated with a microphthalmia/anophthalmia/coloboma spectrum of ocular malformations. CONCLUSIONS: The results support the previous data, indicating that complete ZRS duplication underlies TPT-PS, and suggest a broader phenotypic impact of the 7q36.3 microduplication. Potential involvement of the 7q36.3 microduplication in the patient's cardiac and eye malformations is discussed. However, the contribution of some additional genetic/epigenetic factors to the complex patient`s phenotype cannot be excluded entirely. Further comprehensive functional studies are needed to prove the possible involvement of the 7q36.3 locus in congenital heart disease and eye pathology.