Disease relevance of AVSD1

• Our data demonstrate the existence of a congenital heart defect susceptibility gene, inherited as an autosomal dominant with incomplete penetrance, involved in AVCD [1].
• Congenital defects occurred in four infants born to the women with varicella (varicella embryopathy, hydrocephalus, meningocele and clubfeet, and hammer toe) and two infants born to the controls (ventricular septal defect and hip dislocation) [2].
• Late cardiac mortality at 25 years after surgery was 5% for tetralogy of Fallot and isolated ventricular septal defect, 10% for coarctation of the aorta, 17% for aortic stenosis, 5% for pulmonic stenosis, and less than 1% for patent ductus arteriosus; there were no late cardiac deaths after atrial septal defect repair [3].
• Acute mitral regurgitation and ventricular septal defect after myocardial infarction are devastating complications with high mortality [4].
• We describe nine patients subsequently seen at the Mayo Clinic (seven with acute mitral regurgitation and two with acute ventricular septal defect) who underwent emergency operation within four days of evaluation [4].

Psychiatry related information on AVSD1

• Major features included bilateral cataracts, generalised osteopenia, severe platyspondyly, borderline mental retardation, muscular hypotonia, joint laxity, and ventricular septal defect [5].
• Simplified echocardiographic criteria for decision making in perimembranous ventricular septal defect in childhood [6].
• We conclude that low energy levels are probably explained by undernourishment and/or reduced blood flow to skeletal muscle and that the lack of other discrepancies in muscle metabolism indicates a desirable relatively normal motor activity in these infants with symptomatic VSD [7].
• The patient (female, age 17 years) presented with growth retardation, microcephaly, facial dysmorphia, oesophageal atresia, aortic stenosis, ventricular septal defect, atrial septal defect II, hypothyroidism, and learning disability, but no pyloric stenosis [8].
• Further confirmation was obtained during real time study where the valve leaflets appeared to fly through the ventricular septal defect [9].

High impact information on AVSD1

• In contrast, age at repair correlated poorly with cognitive function in children with ventricular septal defect, an acyanotic congenital heart defect [10].
• These results show that not all infants with a congested circulatory state due to a ventricular septal defect benefit from digoxin therapy [11].
• These observations help explain why the newborn with a large ventricular septal defect and a high hemoglobin concentration does not have clinical signs of a large left-to-right shunt, and also suggest that the postnatal decline in hematocrit has a substantial role in the normal fall in pulmonary vascular resistance after birth [12].
• In an infant with interrupted aortic arch and a large ventricular septal defect, formalin infiltration of the ductus and pulmonary arterial banding alleviated cardiac failure and improved lower-body perfusion [13].
• The spectrum of defects obtained through altering Bmp4 expression in the myocardium recapitulates the range of AVCDs diagnosed in patients, thus providing a useful genetic model with AVCD as the primary defect [14].

Chemical compound and disease context of AVSD1

• To evaluate the effect of acute vasodilator therapy, nitroprusside was administered at cardiac catheterization to five infants (ages 10 days to 6 months) with isolated ventricular septal defect and congestive heart failure [15].
• RESULTS: A total of 58 pregnancies were observed: 31 healthy babies (30 full term, 1 premature) and 27 fetal complications (22 spontaneous abortions, 2 warfarin embryopathies, 1 stillbirth, 1 ventricular septal defect, 1 growth retardation) were recorded [16].
• The data demonstrate that patients undergoing tetralogy of Fallot repair had elevated levels of anti-diuretic hormone, renin, angiotensin II, and aldosterone as compared to a group with ventricular septal defect [17].
• Those from bis-diamine treated embryos exhibited common arterial trunk (32%), overriding aortic valve with valvar pulmonary stenosis (40%) or infundibular atresia (4%), or ventricular septal defect (24%) [18].
• The experience we describe derives from the short-term administration of isoproterenol in 15 patients with ventricular septal defect (VSD) and severe pulmonary artery hypertension (PAH) [19].

Biological context of AVSD1

• Forward stroke volume was also reduced in swine with VSD compared to controls [20].
• This study was conducted to ascertain the mechanism of the reduced cardiac output in children with VSD and FTT and also in a porcine model of VSD [20].
• Associated phenotypes included AV block, which was the primary manifestation of cardiac disease in nearly a quarter of affected individuals, as well as atrial septal defect and ventricular septal defect [21].
• In another two fetuses we diagnosed small muscular VSD on the second-trimester scans [22].
• Letter: Seasonal variation in incidence of ventricular septal defect [23].

Anatomical context of AVSD1

• The only deaths among patients who had aortic valve replacement or repair of a ventricular septal defect occurred in those who had some serious complication before operation [24].
• Mortality rates for coarctation, ventricular septal defect, atrioventricular septal defect, Fallot, and truncus arteriosus operations were 1.1%, 0.6%, 3.6%, 2.3%, and 28.6%, respectively [25].
• Congenital heart defects included bicuspid aortic valve (two), pulmonary valvular stenosis (one), ventricular septal defect (two), and an atrial septal defect (one) [26].
• In three of five patients, the initial course of the A-V conduction system of the ventricles was delineated between the anterior aspect of the ventricular septal defect and the pulmonary artery [27].
• Between January 1983 and December 1987, 62 patients underwent an arterial switch operation for transposition of the great arteries with ventricular septal defect or double outlet right or left ventricle [28].

Associations of AVSD1 with chemical compounds

• Hemodynamic effects of hydralazine in infants with a large ventricular septal defect [29].
• Hemodynamic effects of nitroprusside in infants with a large ventricular septal defect [15].
• METHODS AND RESULTS: Using a nation-wide registry (CONCOR), 79 female patients with balanced/isolated AVSD were identified [30].
• CONCLUSION: Serial echocardiographic assessment of patients with doubly committed ventricular septal defect is recommended [31].
• Embryos treated with all-trans-retinoic acid showed in 15 cases hearts with a rightward positioned aorta with an additional subaortic ventricular septal defect and 32 cases without septation abnormalities of the heart [32].

Other interactions of AVSD1

• In addition, he has vertebral anomalies, brachymelia of the arms, and a ventricular septal defect-features that are reminiscent of Robinow syndrome, which has also been shown to be caused by mutations in ROR2 [33].
• RESULTS: Combining the results from these eight individuals suggests the candidate region for DS-CHD is demarcated by D21S3 (defined by ventricular septal defect), through PFKL (defined by tetralogy of Fallot) [34].
• Here we report the first pediatric case of heterogeneous vancomycin intermediate resistance Staphylacoccus aureus (hVISA) causing endocarditis in Thailand. A 4 months old girl with truncus arteriosus type IV and ventricular septal defect developed methicillin-resistant S. aureus (MRSA) bacteremia and endocarditis after total repair operation [35].
• At 25 years after surgery, the cumulative incidence of infective endocarditis was 1.3% for tetralogy of Fallot, 2.7% for isolated ventricular septal defect, 3.5% for coarctation of the aorta, 13.3% for valvular aortic stenosis, and 2.8% for primum atrial septal defect [36].
• The purpose of this study was to determine exercise tolerance and cardiac response to exercise for a large cohort of adult subjects with aortic stenosis, pulmonary stenosis, or ventricular septal defect participating in the Second Natural History Study of Congenital Heart Defects (NHS-2) [37].

Analytical, diagnostic and therapeutic context of AVSD1

• Thirty-two of 295 patients in whom a diagnosis of VSD was made by two-dimensional echocardiography and who were studied from June 1983 to April 1985 presented with a subaortic shelf [38].
• Two independent observers measured the Doppler color jet width at the left septal surface; jet width was correlated with subsequent reoperation for residual VSD [39].
• To assess the sensitivity, specificity and limitations of PDE diagnosis of VSD, 105 children undergoing cardiac catheterization were examined by PDE [40].
• An aneurysm of the membranous septum was found frequently in patients with ventricular septal defect; although appearance at catheterization during infancy was not common, aneurysms were detected in about half of the patients older than 2 years of age [41].
• Doppler echocardiography has been shown to have high sensitivity and specificity for noninvasive detection of the flow disturbance of ventricular septal defect [42].

References