Современные клинико-фундаментальные аспекты в диагностике и лечении пациентов с ишемической кардиомиопатией (обзор)

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.

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

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