Features Of Ventricular Septal Defect Research Articles

Coxsackievirus B3 Infection Early in Pregnancy Induces Congenital Heart Defects Through Suppression of Fetal Cardiomyocyte Proliferation.

BackgroundCoxsackievirus B (CVB) is the most common cause of viral myocarditis. It targets cardiomyocytes through coxsackie and adenovirus receptor, which is highly expressed in the fetal heart. We hypothesized CVB3 can precipitate congenital heart defects when fetal infection occurs during critical window of gestation.Methods and ResultsWe infected C57Bl/6 pregnant mice with CVB3 during time points in early gestation (embryonic day [E] 5, E7, E9, and E11). We used different viral titers to examine possible dose‐response relationship and assessed viral loads in various fetal organs. Provided viral exposure occurred between E7 and E9, we observed characteristic features of ventricular septal defect (33.6%), abnormal myocardial architecture resembling noncompaction (23.5%), and double‐outlet right ventricle (4.4%) among 209 viable fetuses examined. We observed a direct relationship between viral titers and severity of congenital heart defects, with apparent predominance among female fetuses. Infected dams remained healthy; we did not observe any maternal heart or placental injury suggestive of direct viral effects on developing heart as likely cause of congenital heart defects. We examined signaling pathways in CVB3‐exposed hearts using RNA sequencing, Kyoto Encyclopedia of Genes and Genomes enrichment analysis, and immunohistochemistry. Signaling proteins of the Hippo, tight junction, transforming growth factor‐β1, and extracellular matrix proteins were the most highly enriched in CVB3‐infected fetuses with ventricular septal defects. Moreover, cardiomyocyte proliferation was 50% lower in fetuses with ventricular septal defects compared with uninfected controls.ConclusionsWe conclude prenatal CVB3 infection induces congenital heart defects. Alterations in myocardial proliferate capacity and consequent changes in cardiac architecture and trabeculation appear to account for most of observed phenotypes.

Discrepancies between Doppler and catheter gradients in ventricular septal defect: a correction of localized gradients from pressure recovery phenomenon

Although very high gradient levels were measured during the evaluation of ventricular septal defect (VSD) in daily practice, these measurements are generally interpreted as erroneous and thus neglected. Our aim was to assess the features of VSD's having erroneous interventricular pressure gradients by echocardiography. A 46 patients were enrolled in the study. The patients with higher Doppler-derived interventricular gradient than brachial systolic blood pressure were compared with patients with lower gradient (group 1, n = 26; group 2, n = 20, respectively) in terms of echocardiographic characteristics of VSD. No significant relations were observed in systolic and diastolic blood pressure and interventricular synchronicity between two groups (117.1 ± 6.7 vs 110.2 ± 6.3 mmHg, p = 0.145; 74.7 ± 4.3 vs 73.2 ± 4.9 mmHg, p = 0.32; 31.2 ± 5.5 vs 33.2 ± 4.9 msn, p = 0.29, respectively). Left ventricular end-diastolic and end-systolic diameters were greater in group 2 (46.6 ± 3.5 vs 49.5 ± 4.5, p = 0.022; 30.3 ± 2.5 vs 32.9 ± 3.2, p = 0.004, respectively). Doppler-derived interventricular pressure gradients were significantly higher in group 1 (144.4 ± 13.6 vs 75.7 ± 5.1 mmHg, p < 0.001, respectively). Defect width was significantly lower (3.20 ± 0.40 vs 4.8 ± 1.8 mm, respectively, p < 0.05), and length was greater in group 1 patients (5.75 ± 0.90 vs 2.80 ± 0.80 mm, p < 0.05, respectively). There was a significant positive correlation between pressure gradient and defect length (r = 0.84, p < 0.001), and a negative correlation between pressure gradient and defect width (r = -0.66, p < 0.001). Defect length/width was significantly greater in group 1. With the cut-off value of 1.2, defect length/width was able to predict tunnel-type VSD with sensitivity of 88.5% and specificity of 72.7%. Continuous-wave Doppler method may overestimate interventricular pressure gradients in patients with tunnel-type ventricular septal defect.

Mutational analysis of JAG1 gene in non-syndromic Tetralogy of Fallot children

BackgroundJAG1 is an evolutionarily conserved ligand for Notch receptor and functions in the cell fate decisions, cell–cell interactions throughout the development of heart especially right heart development. Tetralogy of Fallot (TOF) is essentially a right sided heart disease with characteristic features of ventricular septal defect, right ventricular outflow tract obstruction, aortic dextroposition and right ventricular hypertrophy. Hence, the present study was investigated to identify mutations of JAG1 gene in an Indian cohort of patients with TOF. MethodsThe clinical data and blood samples from 84 unrelated subjects with TOF were collected and evaluated in comparison with 87 healthy individuals. PCR based single strand conformation polymorphism analysis and subsequent bidirectional DNA sequencing of conformers was carried in the exon 6 of JAG1 gene. ResultsThe DNA sequences aligned with NCBI-BLAST led to the identification of four novel variations including one nonsense 765 C>A, two missense 814 G>T, 834 G>T; and one silent alteration 816 G>T in TOF patients. The protein structure of JAG1 predicts that these variations effect first and second epidermal growth factor like repeat and might disturb ligand-receptor binding ability. The presence of similar variations was not observed in healthy controls. The software CLUSTAL-W showed the inter species conservation of altered amino acids in missense mutations. ConclusionDisease-associating novel JAG1 gene variations were found in TOF patients, and seem to play an important role in the causation of the disease.

MR anatomy of ventricular septal defect in double-outlet right ventricle with situs solitus and atrioventricular concordance.

Surgical treatment of patients with double-outlet right ventricle (DORV) depends on the spatial relation between the associated ventricular septal defect (VSD) and the arterial valves. This study was performed to refine the magnetic resonance (MR) imaging characteristics of VSD in DORV. Ten patients with DORV underwent MR imaging. Coronal, transverse, and oblique images were obtained with an electrocardiographic-gated multiple-section spin-echo technique. The transverse plane was the most valuable in defining the spatial relation of the VSD to the arterial valves. The site of fusion of the outlet septum with the VSD margin was diagnostically the most important feature in differentiating subaortic from subpulmonary VSD. The outlet septum fused with the anterior margin in subaortic VSD and the posterior margin in subpulmonary VSD; it was absent in doubly committed VSD. This study suggests that MR imaging can demonstrate the pertinent features of VSD and may be an indispensable adjunct to echocardiography in the preoperative evaluation of patients with DORV.

Tricuspid Valve Fluttering: Echocardiographic Features of Ventricular Septal Defect

M-mode echocardiographic features are presented in four patients with membranous ventricular septal defect. The most consistent echo findings in all the patients were the presence of fuzzy, fluttering echoes of the tricuspid valve during systole. More careful echocardiographic evaluation of the tricuspid valve in ventricular septal defect is therefore recommended.

Bronchopulmonary circulation in d-transposition of the great arteries: Possible role in genesis of accelerated pulmonary vascular disease

Hemodynamic and angiograhic data from 209 patients with d-transposition of the great arteries were reviewed to estimate the incidence of prominent bronchopulmonary circulation and to explore its role in the genesis of accelerated pulmonary vascular disease in these patients. The degree of bronchopulmonary circulation was assessed visually by considering the extent of the pulmonary arterial opacification and the circulation to the left atrium. An initial survey study revealed a marked degree of collateral circulation in 20 of 138 patients with d-transposition having cardiac catheterization before age 2 years at the Hospital for Sick Children, Toronto, between 1967 and 1972. Detailed analysis of 71 additional patients with d-transposition aged 1 week to 72 months (mean 17 months) studied at Children's Memorial Hospital, Chicago, between 1967 and 1974 showed collateral circulation of marked degree in 23 and of mild degree in 14. The bronchopulmonary collateral vessels were more freqently demonstrated in the patients with intact ventricular septum than in those with ventricular septal defect or left ventricular outflow tract stenosis. In a prospective study in 12 of 15 patients during cardiac catheterization the functional patency of the bronchopulmonary collateral circulation was demonstrated by obstructing pulmonary blood flow in the right or left pulmonary artery, or both, with an inflated balloon and obtaining from the pulmonary arterial segment distal to the occlusion blood with an oxygen saturation similar to that of the aorta. A hypothesis is presented concerning the role of systemic hypoxemia and local pulmonary hypoxemia induced by way of the bronchopulmonary collateral vessels and the bronchial arterial vasovasorum in promoting pulmonary vasoconstriction. It is suggested that increased pulmonary blood flow and pressure due to the physiologic features of ventricular septal defect, patent ductus arteriosus or transposition of the great vessels, in the face of this regionally increased hypoxemia results in accelerated pulmonary vascular disease.

Echocardiographic features of ventricular septal defect with prolapsing a ortic valve associatated with aortic insufficiency: Angiocardiographic correlates

Echocardiographic features of ventricular septal defect with prolapsing a ortic valve associatated with aortic insufficiency: Angiocardiographic correlates

Influence of structural and functional features of ventricular septal defect on frontal plane QRS axis of the electrocardiogram.

Influence of structural and functional features of ventricular septal defect on frontal plane QRS axis of the electrocardiogram.