Congenital and surgically acquired Wolff-Parkinson-White syndrome in patients with tricuspid atresia

ObjectivesThere are reports associating an increased incidence of Wolff-Parkinson-White syndrome with tricuspid atresia. Here we report on electrophysiologic studies in patients with tricuspid atresia and Wolff-Parkinson-White syndrome after the Fontan operation. In these patients the atrial arrhythmia often seen in patients undergoing the Fontan operation triggered atrioventricular re-entrant tachycardia or caused life-threatening arrhythmias.MethodsFive patients with tricuspid atresia after palliation with a modified Fontan operation (atrioinfundibular connections) and Wolff-Parkinson-White syndrome are presented.ResultsFour of these patients had symptomatic paroxysmal orthodromic atrioventricular re-entrant tachycardia and a history of syncope; one of them additionally had atrial flutter with 2:1 conduction to the ventricle. A fifth patient presented with a life-threatening broad-complex tachycardia. In electrophysiologic studies an accessory pathway was localized in the right septal area in 3 patients. In 2 patients the accessory atrioventricular pathways were created by means of surgical intervention, connecting the right atrial appendage to the right ventricular outflow tract. All patients could be managed successfully by means of catheter ablation.ConclusionsIn patients with tricuspid atresia, there are congenital and surgically acquired accessory pathways responsible for the increased rate of Wolff-Parkinson-White syndrome. Both types of accessory pathways can and should be treated by means of catheter ablation because atrial arrhythmia often seen in patients undergoing the Fontan operation can trigger atrioventricular re-entrant tachycardia or cause life-threatening tachycardia. Congenital accessory pathways should be excluded carefully before surgical intervention for total cavopulmonary anastomosis in patients with tricuspid atresia

ICD Shock, Not Ventricular Fibrillation, Causes Elevation of High Sensitive Troponin T after Defibrillation Threshold Testing-The Prospective, Randomized, Multicentre TropShock-Trial

Background The placement of an implantable cardioverter defibrillator (ICD) has become routine practice to protect high risk patients from sudden cardiac death. However, implantation-related myocardial micro-damage and its relation to different implantation strategies are poorly characterized. Methods A total of 194 ICD recipients (64 +/- 12 years, 83% male, 95% primary prevention of sudden cardiac death, 35% cardiac resynchronization therapy) were randomly assigned to one of three implantation strategies: (1) ICD implantation without any defibrillation threshold (DFT) testing,(2) estimation of the DFT without arrhythmia induction (modified "upper limit of vulnerability (ULV) testing") or (3) traditional safety margin testing including ventricular arrhythmia induction. High-sensitive Troponin T (hsTnT) levels were determined prior to the implantation and 6 hours after. Results All three groups showed a postoperative increase of hsTnT. The mean delta was 0.031 +/- 0.032 ng/ml for patients without DFT testing, 0.080 +/- 0.067 ng/ml for the modified ULV-testing and 0.064 +/- 0.056 ng/ml for patients with traditional safety margin testing. Delta hsTnT was significantly larger in both of the groups with intraoperative ICD testing compared to the non-testing strategy (p<0.001 each). There was no statistical difference in delta hsTnT between the two groups with intraoperative ICD testing (p = 0.179). Conclusion High-sensitive Troponin T release during ICD implantation is significantly higher in patients with intraoperative ICD testing using shock applications compared to those without testing. Shock applications, with or without arrhythmia induction, did not result in a significantly different delta hsTnT. Hence, the ICD shock itself and not ventricular fibrillation seems to cause myocardial micro-damage

Evaluation of the gene encoding the tissue inhibitor of metalloproteinases-3 in various maculopathies

Purpose. Mutations in the gene encoding the tissue inhibitor of metalloproteinases-3 (TIMP3) have been shown previously to cause Sorsby's fundus dystrophy, an autosomal-dominant disorder characterized by extracellular matrix irregularities in Bruch's membrane. To assess the involvement of TIMP3 in a variety of other macular dystrophies, the authors have screened this gene for disease-causing mutations in age-related macular degeneration (AMD), adult vitelliform macular dystrophy (AVMD), central areolar choroidal dystrophy (CACD), syndrome-associated macular dystrophies, cone-rod dystrophy, and a group with unspecified macular degeneration. Methods. Single-stranded conformational analysis of the entire coding region was performed using the polymerase chain reaction and oligonucleotide primers flanking the five exons of the TIMP3 gene as well as the putative promotor region and a highly conserved fragment of the 3'-untranslated region. The authors analyzed a total of 217 patients, including 143 patients with AMD, 28 patients with AVMD, 21 patients with CACD, and 25 patients with other forms of macular dystrophy. Results. In the 217 patients analyzed, the authors have identified one sequence alteration (a G-to-C base change) in the 5'-untranslated region in a patient with AMD. However, the functional consequences of this mutation are not clear. No other disease-causing mutations were found. The authors have characterized a frequent intragenic polymorphism in exon 3 of the TIMP3 gene (heterozygosity = 0.57) that will be useful for genetic linkage or allele sharing analyses or both. Conclusions. The authors' results suggest that TIMP3 is not a major factor in the cause of AMD, AVMD, and CACD. Thus far, Sorsby's fundus dystrophy appears to be the only phenotype known to be associated with mutations in TIMP3

Emergency hospital admissions and three-year survival of adults with and without cardiovascular surgery for congenital cardiac disease

AbstractObjective:This study determined the quantity and nature of emergencies leading to unscheduled hospital admissions of adults with congenital cardiac disease and their mid-term survival.ResultsDuring 1 year, 429 adults with congenital cardiac diseases were admitted 571 times, and 124 admissions (22%) of 95 patients (22%) were emergency admissions. Fifteen of the 95 patients were seen for the first time in 1 of the participating centers. The underlying anomalies were Fallot's tetralogy and pulmonary atresia (n = 26/7), univentricular heart after Fontan procedure (n = 25), atrial septal defect (n = 18), Eisenmenger syndrome (n = 12), complete transposition (n = 11), and others (n = 25). Indications for admission were cardiovascular complications (n = 103; 83%) (arrhythmia, cardiac failure, syncope, pacemaker problems, pericardial tamponade, and sudden death), infections (n = 8, 6%) (endocarditis, pacemaker infection, pneumonia, and cerebral abscess), acute chest pain (n = 7; 6%), and acute abdominal pain (n = 4; 3%). All patients required immediate emergency care, and 16 patients (17%) required urgent cardiovascular or abdominal surgery. Six patients died during the hospital stay. During a follow-up of 2.9 years (SD 0.8), 16 (18%) of the discharged patients died, and 2 additional patients underwent heart or heart-lung transplantation.ConclusionAdults with congenital cardiac disease often experience serious emergency situations with a high in-hospital and mid-term post-hospital mortality. Care given by physicians with special expertise is important in this specific group of patients

Clinical electrophysiology of two rod pathways: normative values and clinical application

Background: The scotopic 15-Hz flicker electroretinogram (ERG) has two limbs (slow and fast ERG rod signals), and these have been attributed to two retinal rod pathways (the ON rod bipolar and AII amacrine pathway and the rod-cone gap-junction pathway). The aim of this study was to provide normative values of the scotopic 15-Hz flicker ERG, to estimate the inter-individual variability, and to apply this method to a clinical setting. Methods: Twenty-two normal subjects, one patient with retinitis pigmentosa (RP), and two patients with Stargardt's macular dystrophy (SMD) participated in the study. The SMD patients were screened for mutations in the 50 exons of the ABCA4 (formerly ABCR) gene. We measured ERG response amplitudes and phases to flicker intensities ranging from –3.37 to –0.57 log scotopic trolands s at a flicker frequency of 15 Hz. Results: The normal scotopic 15-Hz flicker ERG showed a biphasic amplitude pattern with a minimum at about –1.57 log scotopic trolands s, where there was an abrupt phase shift of about 180 deg. The inter-individual variability in ERG amplitude ranged from 47% to 67% for the slow and from 41% to 64% for the fast rod signal. Both the RP patient and the SMD patients (who were compound heterozygotes for mutations in the ABCA4 gene) showed reduced amplitudes for the two rod ERG pathways. Conclusion: The inter-individual variability might be explained by anatomical differences between individual retinae. In the RP patient, the amplitude reductions corresponded well with the standard rod ERG. In the SMD patients, however, the scotopic 15-Hz flicker ERG revealed rod dysfunction, whereas the standard rod ERG was within normal limits. The scotopic 15-Hz flicker method may be more sensitive than the standard rod ERG