Evgeniya V. Lelik

Aim. Intrasegmental and intersegmental analysis of thoracic aortic (TA) biomechanics in patients with ascending aortic (AA) aneurysms before and after TA repair using aortic wall ultrasound assessment. Material and methods.  Twenty-three patients with AA aneurysms (≥50 mm) were examined. Eleven (48%) patients had connective tissue dysplasia. All patients underwent 2D multiplane transesophageal echocardiography with the entire TA imaging before and after TA repair. Using 2D speckle-tracking technology, we calculated global peak systolic circumferential strain (GCS, %), GCS normalized to pulse pressure (PP) (GCS/PP), and the β ₂ aortic wall stiffness index in following three TA segments: sinuses of Valsalva, mid AA segment, and descending aorta (DA). Results. In patients with AA aneurysm, before surgery, a significant decrease in strain and increase in stiffness of the aortic wall in the direction from the aortic root to the DA with a maximum in the area of greatest dilation — the middle AA segment (GCS: -1,1% [-2,4; 2,9], p2 : 24 [15,7; 32,6], p2 : 33,5 [15,1; 50,2], pConclusion.  AA aneurysm is accompanied by a pronounced limitation of strain and an increase in aortic wall stiffness with a maximum in the greatest dilation area — the middle AA segment. AA repair creates a new biomechanical phenotype of the TA, manifested by an intersegmental imbalance of strain and aortic wall stiffness between the aortic root, the repair area AA and the arch, and DA.

This case demonstrates the efficacy and feasibility of visceral–renal debranching with endovascular repair for the treatment of a distal stent graft-induced new entry (dSINE) that occurred 47 months after a frozen elephant trunk procedure in a patient with chronic aortic dissection type B. There were no perioperative complications. Postoperative computed tomography scans confirmed sealing dSINE and the patency of visceral and renal arteries.

Introduction . Aortic arch anomalies, especially the “bovine arch”, can cause the development of an ascending aortic aneurysm. There is a high coefficient of heritability of this pathology, however, genetic studies are rare. Since the “bovine arch” is one of the variants of the development of the aortic arch and large vessels during embryogenesis, this pathology may be associated with genes encoding proteins involved in the embryonic development of the cardiovascular system. Aim: To identify rare, clinically significant variants of genes of cardiovascular embryonic development in patients with sporadic ascending aortic aneurysm and a “bovine arch”. Material and Methods . The study included 42 patients with a sporadic form of ascending aortic aneurysm, including 11 patients with a “bovine arch”. Analysis of the clinical exome was performed based on DNA sequencing data using Clinical Exome Solution (Sophia Genetics, Switzerland) and NextSeq 500 genetic sequencer (Illumina, USA). The search for rare, clinically significant variants (minor allele frequency G of the CCDC39 gene, which is a single-nucleotide substitution leading to the loss of the acceptor splice site (ΔScore = 0.97 Spliceailookup) and a variant of uncertain clinical significance (VUS) c.2564T>C in the ANKS6 gene, which has high pathogenicity rates on the CADD (Phred = 28.3) and AlphaMissense (0.972) scales. A likely pathogenic variant c.1151T>C of the ACVR2B gene was identified in the group of patients with aortic aneurysm without supraaortic vessels anomaly (AlphaMissense = 0.966). Among the 38 genes whose sequences revealed VUS in both groups of patients, the protein products of 17 (44.7%) are involved in the functioning of cilia and microtubules, and the proteins encoded by the genes MKS1, CCDC40, DNAAF1, ANKS6, CCDC39, DNAH5, DNAAF3 are also responsible for the development of the cardiovascular system. Conclusion . Rare, clinically significant variants in the CCDC39 and ANKS6 genes, which are crucial for primary cilia function, contribute to the development of sporadic ascending aortic aneurysm in combination with a “bull’s arch.” When a normal aortic arch is present, variants in the ACVR2B gene, belonging to the TGF-beta signaling protein superfamily, play an important role.

We present a clinical case of mitral insufficiency in a 59-year-old patient with dextrocardia and complete transposition of the viscera. The patient underwent mitral valve posterior leaflet repair and annuloplasty. During the operation, a "mirror inversion" of the equipment and surgery team position was carried out. The special feature of the operation was due to the fact that the aorta and great vessels in the wound were mirror-image. The postoperative period proceeded without complications. Being aware of the patient's dextrocardia and hence organizing the surgical procedure appropriately, we could achieve good results in radical surgery for valvular heart disease.

Протезирование восходящей аорты у пациентов с нормальной и вариантной анатомией брахиоцефального ствола

Nonsyndromic sporadic thoracic aortic aneurysm (nssTAA) is characterized by diverse genetic variants that may vary in different populations. Our aim was to identify clinically relevant variants in genes implicated in hereditary aneurysms in Russian patients with nssTAA. Forty-one patients with nssTAA without dissection were analyzed. Using massive parallel sequencing, we searched for variants in exons of 53 known disease-causing genes. Patients were found to have no (likely) pathogenic variants in the genes of hereditary TAA. Six variants of uncertain significance (VUSs) were identified in four (9.8%) patients. Three VUSs [FBN1 c.7841C>T (p.Ala2614Val), COL3A1 c.2498A>T (p.Lys833Ile), and MYH11 c.4993C>T (p.Arg1665Cys)] are located in genes with “definitive” disease association (ClinGen). The remaining variants are in “potentially diagnostic” genes or genes with experimental evidence of disease association [NOTCH1 c.964G>A (p.Val322Met), COL4A5 c.953C>G (p.Pro318Arg), and PLOD3 c.833G>A (p.Gly278Asp)]. Russian patients with nssTAA without dissection examined in this study have ≥1 VUSs in six known genes of hereditary TAA (FBN1, COL3A1, MYH11, NOTCH1, COL4A5, or PLOD3). Experimental studies expanded genetic testing, and clinical examination of patients and first/second-degree relatives may shift VUSs to the pathogenic (benign) category or to a new class of rare “predisposing” low-penetrance variants causing the pathology if combined with other risk factors.

Aim      To evaluate quality of life (QoL), general survival, and development of complications in patents one year after surgical aortic valve (AV) replacement with a MedInzh-BIO xenopericardial carcass prosthesis. Material and methods  Degenerative AV disease is one of the most common cardiovascular diseases that gives place only to ischemic heart disease. Surgical correction of the AV defect should be aimed not only at hemodynamic outcomes but also at improvement of QoL. This study included 91 patients (48 women and 43 men), who were implanted with a MedInzh-BIO biological xenopericardial prosthesis in aortic position from January 2017 through March 2020. Mean age of patients was 69.96±4.4 years. QoL was evaluated with a standard SF-36 questionnaire. Also, survival and complications were analyzed one year after surgery. Results Data analysis before and one year after surgery showed a significant improvement of QoL. Postoperative one-year survival was 95.4 %, and major valve-associated complications were absent in 94.5% of cases. During one year, four patients died after 1, 6, 8, and 10 months of follow-up, respectively. Conclusion      The improvement of QoL following the AV replacement with a novel xenopericardial carcass prosthesis with the “easy change” system indicates the clinical and functional effectiveness of the used method. The results of the study demonstrated improvements of both the physical health component and the subjective emotional assessment. Postoperative one-year survival was 95.4 %, and major valve-associated complications were absent in 94.5% of cases.

Первый клинический опыт использования костной крошки для улучшения репарации костной ткани грудины после срединной стернотомии

Aim. To compare the outcomes of aortic valve replacement using the xenogenic aortic prosthesis Hancock II and the novel Russian xenogenic pericardial prosthesis MEDINGE-BIO.Material and methods. The study included patients operated on for aortic stenosis in the cardiac surgery department № 1 of the Cardiology Research Institute (Tomsk National Research Medical Center). All patients were divided into two groups. The first group included 54 patients with Hancock II prostheses, the second — 91 patients with MEDINGE-BIO prostheses. Hemodynamic characteristics of heart valves were assessed by echocardiography before surgery and before discharge (on average 10 days after surgery).Results. When comparing hemodynamic parameters before and after surgery, significant differences between the groups were not obtained. The average pressure gradient after surgery using Hancock II and MEDINGE-BIO prosthesis was 21,6±7,9 and 17,9±5,6 mm Hg, respectively (p=0,05).Conclusion. The comparative analysis showed that the novel biological prosthesis MEDINGE-BIO has comparable hemodynamic characteristics with the well-known aortic prosthesis Hancock II.