Anomalous subaortic position of the brachiocephalic vein associated with Tetralogy of Fallot. (33/500)

The left brachiocephalic vein is found in an anomalous position less frequently than the superior vena cava or azygous channels in thoracic venous systems. We experienced a rare case of anomalous left brachiocephalic vein which was clearly demonstrated by spiral computed tomography (3D-CT). Although the malformation in itself seems to be of no functional importance, we assessed its importance in terms of associated conditions and its relevance to subsequent operations.  (+info)

Double outlet right ventricle with 1-malposition of the aorta. (34/500)

Four patients are described with a recently recognized variant of double outlet right ventricle. Clinical examination favoured tetralogy of Fallot, but the chest X-ray suggested corrected transposition. Catheterization and angiocardiography showed that the aorta was to the left of the main pulmonary artery, and both arose from a normally positioned morphological right ventricle. Egress of blood from the left ventricle was through a subaortic ventricular septal defect. In all patients severe pulmonary stenosis was present and the right coronary artery ran an anomalous course anterior to the pulmonary valve ring. Two children had successful total correction, and one a palliative Blalock-Taussing shunt. Necropsy material from the fourth patient allowed confirmation of the ventricular morphology and the conducting tissued was examined. In corrective surgery, blood from the left ventricle was rerouted into the aorta by an intraventricular baffle. Pulmonary stenosis was relived by infundibulectomy and outflow tract patch.  (+info)

Quantitative analysis of hypertrophy in cardiac chambers in cyanotic tetralogy of Fallot. (35/500)

Although early total corrective repair for cyanotic tetralogy of Fallot is now safely performed at many institutions, long-term complications after surgical repair have been demonstrated. Therefore, the optimal procedure and timing for surgical treatment remain controxersial. In the present study, we conducted a quantitative analysis of the hypertrophy of all four chambers of 87 autopsied hearts of cyanotic tetralogy of Fallot and 71 normal control hearts utilizing the myocardial mass index, and evaluated the progression of lesions with advancing age. In cyanotic tetralogy of Fallot, hypertrophy of the right ventricle progresses immediately after birth, with that of the right atrium developing soon after. The left side of the heart is normal or slightly atrophied which could be corrected by sufficient palliative intervention or total corrective repair. The growth curves of both ventricles were parallel to those of normal hearts for the period studied. Pulmonary atresia, palliative operation, and total corrective repair have been shown to have some influence on the morphological characteristics of hearts of cyanotic tetralogy of Fallot.  (+info)

Life-threatening pulmonary edema following unilateral stent implantation for bilateral branch pulmonary stenosis: recovery after contralateral stent implantation. (36/500)

A 13-year-old girl, who was suffering complications with bilateral pulmonary artery stenosis after intracardiac repair for tetralogy of Fallot, suffered life-threatening left pulmonary bleeding and edema following inadvertent unilateral stent implantation for a left pulmonary stenosis. Pulmonary edema and subsequent hypoxia persisted despite intensive medical treatment; however, contralateral stent deployment resolved her symptoms quickly.  (+info)

NKX2.5 mutations in patients with tetralogy of fallot. (37/500)

BACKGROUND: Recent reports have implicated mutations in the transcription factor NKX2.5 as a cause of tetralogy of Fallot (TOF). To estimate the frequency of NKX2.5 mutations in TOF patients and to further investigate the genotype-phenotype correlation of NKX2.5 mutations, we genotyped 114 TOF patients. METHODS AND RESULTS: Patients were recruited prospectively (November 1992 through June 1999) and tested for a 22q11 deletion; those with 22q11 deletion or recognized chromosomal alteration were excluded from the present study. Patients were screened for NKX2.5 alterations by conformation-sensitive gel electrophoresis and sequencing of fragments with aberrant mobility. Four heterozygous mutations were identified in 6 unrelated patients with cases of TOF, including 3 with pulmonary atresia and 5 with right aortic arch; none had ECG evidence of PR interval prolongation. Three of 4 mutations (Glu21Gln, Arg216Cys, and Ala219Val) altered highly conserved amino acids, of which 2 mapped in the conserved NK2 domain. The fourth mutation (Arg25Cys) was identified in 3 unrelated probands in the present study and has been previously reported. No homeodomain mutations were identified. CONCLUSIONS: NKX2.5 mutations are the first gene defects identified in nonsyndromic TOF patients. NKX2.5 mutation is present in >/=4% of TOF patients. Mutations identified in the present study mapped outside of the homeodomain, were not associated with atrioventricular conduction disturbances, and were not fully penetrant, in contrast to mutations previously reported that impair homeodomain function.  (+info)

Investigation of parvovirus B19 in cardiac tissue from patients with congenital heart disease. (38/500)

OBJECTIVE: To explore the correlation between human parvovirus B19 (HPV-B19) and congenital heart (CHD) and to investigate the teratogenic effect of HPV-B19. METHODS: A case control study was conducted to investigate the embedded autopsy cardiac tissues of 29 cases of CHD and 30 controls without CHD with nest polymerase chain reaction (PCR). Other viruses, including herpes simplex virus (HSV). Toxoplasma gondii (TOX), cytomegalovirus (CMV) and rubella virus (RV) were also studied in 10 cases of each group with corresponding PCR kits. RESULTS: Five of 29 (17.2%) CHD cases were positive for HPV-B19, while all the 30 controls were negative for HPV-B19 (P=0.0237). All cases studied were negative for both HSV and TOX. Three cases in each group were positive for CMV, with presence of HPV-B19 DNA in 2 cases in the CHD group. Only two cases in the CHD group showed positive reaction for RV. CONCLUSIONS: As far as we know, it is the first report of the presence of HPV-B19 in cardiac tissues of CHD patients. The detection rate of HPV-B19 DNA is significantly different between the two groups, inferring that HPV-B19 might be correlated with CHD.  (+info)

Adrenergic nervous activity in patients after surgical correction of tetralogy of Fallot. (39/500)

OBJECTIVES: The study was done to define the role of the autonomic nervous system in postoperative tetralogy of Fallot. BACKGROUND: Subsequent to surgical correction of tetralogy of Fallot, patients are at long-term risk of sudden death owing to ventricular electrical instability. The status of the sympathetic nervous system in these patients, known to play an important role in other patients at risk, remains unknown. METHODS: We used (123)I metaiodobenzylguanidine (MIBG) with tomographic imaging, combined with assessment of heart rate variability (HRV), to evaluate the activity of the sympathetic nervous system. We analyzed 22 patients who had undergone total correction of tetralogy of Fallot: 13 with either no or minor ventricular arrhythmias, and 9 with sustained ventricular tachycardia or ventricular fibrillation. RESULTS: Analysis of HRV revealed a reduction in vagal control and sympathetic dominance in all patients compared with a healthy control group of 20 subjects. A significant difference was found in the standard deviation of all the adjacent intervals between normal beats (SDNN) in patients with or without severe ventricular arrhythmias. A significant reduction in uptake of (123)I MIBG was demonstrated 30 min after IV injection, and a trend toward reduction after 5 h, associated with reduced washout indices. These data reflect a decrease in the number of nerve endings in the right and left ventricular walls, and an inhomogeneous distribution of the adrenergic nervous system. The uptake of MIBG was significantly reduced in the patients at risk of ventricular tachycardia or fibrillation. CONCLUSIONS: Subsequent to surgical correction of tetralogy of Fallot, the positive correlation between myocardial uptake of MIBG, SDNN and the QRS dispersion confirmed the usefulness of analysis of the adrenergic nervous system to stratify patients at risk of life-threatening arrhythmias.  (+info)

Reversible activation of nuclear factor-kappaB in human end-stage heart failure after left ventricular mechanical support. (40/500)

OBJECTIVE: Left ventricular assist devices (LVAD) have been used to 'bridge' patients with end-stage heart failure to transplantation. Although several reports have suggested that the native ventricular function recovers after long-term LVAD support, a process called 'reverse remodeling', the underlying biological mechanisms are still unknown. As the transcription factor nuclear factor-kappaB (NF-kappaB) has been shown to be active in the failing human heart, we examined whether its activity is altered under LVAD support, and may thus contribute to the dynamic process of 'reverse remodeling'. METHODS: The activity of NF-kappaB was studied in 16 patients with end-stage heart failure (eight with dilated cardiomyopathy, six with ischemic heart disease, one with myocarditis, and one with congenital heart disease) before and after LVAD support by immunohistochemistry using an antibody against active NF-kappaB. Gel-shifts for NF-kappaB DNA-binding activity were performed with paired human myocardial tissue from four patients. The mean cardiomyocyte diameter before and after mechanical unloading was measured with an image analyzer system. RESULTS: 15 patients out of 16 showed a significant decrease in the number of NF-kappaB positive cardiomyocyte nuclei after LVAD support in the left ventricular myocardium. The NF-kappaB DNA-binding activity also decreased after LVAD support as measured by gel-shift analysis. While the number of positive cardiomyocytes was significantly higher in the subendocardium than in the subepicardium at the time of LVAD implantation, this difference was no longer present at the time of LVAD explantation. The diameter of cardiomyocytes in the left ventricle decreased significantly as a parameter of structural reverse remodeling. CONCLUSION: LVAD support decreases the extent of NF-kappaB activation in failing human hearts, suggesting that NF-kappaB may be involved in the process of 'reverse remodeling'.  (+info)