Search Results (6)

One out of every hundred live births present with congenital heart abnormalities caused by the aberrant development of the embryonic cardiovascular system. The conserved zinc finger transcription factor proteins, which include GATA binding protein 5 (GATA5) and GATA binding protein (GATA6) play important roles in embryonic development and their inactivation may result in congenital heart defects (CHDs). In this study, we performed genotypic–phenotypic analyses in two families affected by right-sided CHD diagnosed by echocardiography imaging. Proband A presented with pulmonary valve stenosis, and proband B presented with complex CHD involving the right heart structures. For variant detection, we employed whole-genome single-nucleotide polymorphism (SNP) microarray and family-based whole-exome sequencing (WES) studies. Proband A is a full-term infant who was admitted to the neonatal intensive care unit (NICU) at five days of life for pulmonary valve stenosis (PVS). Genomic studies revealed a normal SNP microarray; however, quad WES analysis identified a novel heterozygous [Chr20:g.61041597C>G (p.Arg237Pro)] variant in the GATA5 gene. Further analysis confirmed that the novel variant was inherited from the mother but was absent in the father and the maternal uncle with a history of heart murmur. Proband B was born prematurely at 35 weeks gestation with a prenatally diagnosed complex CHD. A postnatal evaluation revealed right-sided heart defects including pulmonary atresia with intact ventricular septum (PA/IVS), right ventricular hypoplasia, tricuspid valve hypoplasia, hypoplastic main and bilateral branch pulmonary arteries, and possible coronary sinusoids. Cardiac catheterization yielded anatomy and hemodynamics unfavorable to repair. Hence, heart transplantation was indicated. Upon genomic testing, a normal SNP microarray was observed, while trio WES analysis identified a novel heterozygous [Chr18:c.1757C>T (p.Pro586Leu)] variant in the GATA6 gene. This variant was inherited from the father, who carries a clinical diagnosis of tetralogy of Fallot. These findings provide new insights into novel GATA5/6 variants, elaborate on the genotypic and phenotypic association, and highlight the critical role of GATA5 and GATA6 transcription factors in a wide spectrum of right-sided CHDs. Full article

Transcatheter aortic valve implantation (TAVI) or transcatheter aortic valve replacement (TAVR) is now a very widespread treatment method for symptomatic and severe aortic stenosis as an alternative for patients at intermediate or high risk of surgery or contraindications to surgery. The key role of imaging examinations before TAVI is to assess the morphology of the aortic valve, the routes of surgical access, and non-cardiac and extravascular structures. The objective of this article is to present and discuss the importance of selected accidental vascular findings in computed tomography examinations of the heart and large vessels performed in the TAVI qualification procedure: persistent left superior vena cava (SVC) with absent right SVC, right aortic arch, ectopic right coronary artery ostium, and left superior pulmonary vein draining into left brachiocephalic vein. Full article

The effect of extracellular vesicles (EVs) of various origins on the heart structures in the time of health and disease has been well studied. At the same time, data on the distribution of EVs throughout the body after introduction into the tissues and the possibility of the influence of these EVs on organs distant from the injection site are practically absent. It is also necessary to note a certain inconsistency in the results of various researchers: from articles on the direct absorption of EVs derived from mesenchymal multipotent stromal cells (MSC EVs) by cardiomyocytes to the data that the heart is inherently immune to drug delivery mediated by nanoparticles. In this regard, the morphological changes in the myocardium of outbred rabbits of both sexes weighing 3–4 kg were studied at various times after experimental trauma of the bone tissue in the proximal condyle of the tibia (PCT) and the use of MSC EVs. As a result of modeling the PCT defect, rabbits develop myocardial edema in the heart muscle by the 3rd day, their lymphatic vessels expand, and then, on the 7th day, the blood vessels become dilated. In the myocardium, the relative and absolute contents of neutrophils, erythrocytes, and macrophages increase, but the percentage of lymphocytes decreases. By day 10, almost all of these changes return to their initial values. The detected transformations of the myocardium are most likely due to the ingress of detritus with the blood flow from the PCT. The use of MSC EVs to influence the regeneration of damaged tissue of PCT promotes earlier dilatation of the blood vessels of the heart with pronounced diapedesis of erythrocytes or even hemorrhages, prolongation of edema, the formation of blood clots in vessels with obliteration of their lumen, sclerotic transformation of vascular walls and paravascular tissues. In the myocardium, the number density of neutrophils, the percentage of lymphocytes, and neutrophils become smaller, with a simultaneous increase in the relative numbers of erythrocytes and macrophages, and changes in the content of macrophages remained until the end of the observation—up to 10 days after the surgery. The discovered effect of MSC EVs is most likely associated with the suppression of the activity of the inflammatory process in the PCT area, which, in turn, was caused by a longer ingress of detritus with blood flow into the myocardium. The absence of statistically significant differences between changes in the myocardium of the left and right ventricles may indicate that both detritus from the surgical site and MSC EVs affect the heart spreading through the coronary artery system. Full article

Background: The aim of our study was to investigate the presence and mutual relationships of coronary vessels within the right atrial appendage (RAA) vestibule. Methods: We examined 200 autopsied hearts. The RAA vestibule was cross-sectioned along its isthmuses (superior, middle, and inferior). Results: The right coronary artery (RCA) was present in 100% of the superior RAA isthmuses but absent in 2.0% of hearts within the middle isthmus and in 6.5% of hearts within the inferior RAA isthmus. Its diameter was quite uniform along the superior (2.6 ± 0.8 mm), middle (2.9 ± 1.1 mm), and inferior (2.7 ± 0.9 mm) isthmuses (p = 0.12). The location of the RCA varied significantly, and it was sometimes accompanied by other accessory coronary vessels. In all the isthmuses, the RCA ran significantly closer to the endocardial surface than to the epicardial surface (p < 0.001). At the superior RAA isthmus, the artery was furthest from the right atrial endocardial surface and this distance gradually decreased between the middle RAA isthmus and the inferior RAA. Conclusions: This study was the most complex analysis of the mutual arrangements and morphometric characteristics of coronary blood vessels within the RAA vestibule. Awareness of additional blood vessels within the vestibule can help clinicians plan and perform safe and efficacious procedures in this region. Full article

The prevalence of isolated right coronary artery (RCA) absence ranges from 0.014% to 0.066% in the general population, but its combination with an absent left main (dual ostium left anterior descending [LAD] and super-dominant left circumflex [LCx]) has not been previously described. We report the case of a rare coronary artery anomaly: an absent RCA with LAD and LCx coronary arteries arising separately from the left coronary sinus. A 53-year-old male with recent COVID-19 infection was referred to our service for coronary computed tomography angiography (CCTA) due to the recent onset of atypical chest pain. The RCA was absent, with no vessel leaving the right or non-coronary sinus. The LAD and LCx emerged from the left coronary sinus, with a “double-barrel” appearance. The LAD was unremarkable, with small, non-stenosed calcified plaque. The LCx had a 3 mm diameter, arching downward in the left atrioventricular groove, passing through the crux cordis, continuing into the right atrioventricular groove, and ending as a left acute artery and sinonodal artery. No significant stenosis was found on any of the vessels, ruling out atherosclerotic coronary disease. Full article

Coronary artery anomalies represent a disease spectrum from incidental to life-threatening. Anomalies of coronary artery origin and course are well-recognized in human medicine, but have received limited attention in veterinary medicine. Coronary artery anomalies are best described in the dog, hamster, and cow though reports also exist in the horse and pig. The most well-known anomaly in veterinary medicine is anomalous coronary artery origin with a prepulmonary course in dogs, which limits treatment of pulmonary valve stenosis. A categorization scheme for coronary artery anomalies in animals is suggested, dividing these anomalies into those of major or minor clinical significance. A review of coronary artery development, anatomy, and reported anomalies in domesticated species is provided and four novel canine examples of anomalous coronary artery origin are described: an English bulldog with single left coronary ostium and a retroaortic right coronary artery; an English bulldog with single right coronary ostium and transseptal left coronary artery; an English bulldog with single right coronary ostium and absent left coronary artery with a prepulmonary paraconal interventricular branch and an interarterial circumflex branch; and a mixed-breed dog with tetralogy of Fallot and anomalous origin of all coronary branches from the brachiocephalic trunk. Coronary arterial fistulae are also described including a coronary cameral fistula in a llama cria and an English bulldog with coronary artery aneurysm and anomalous shunting vessels from the right coronary artery to the pulmonary trunk. These examples are provided with the intent to raise awareness and improve understanding of such defects. Full article