Transcatheter closure of persistent ductus arteriosus in adults.

OBJECTIVE: To describe the technical aspects and outcome of duct occlusion in adults over a 12-year period. METHODS: A single center review of all transcatheter duct closures performed between 2000 and 2012. RESULTS: Of 518 transcatheter duct closures performed, 31 patients were over the age of 16 at the time of procedure (6%). In 10 of the 31 cases, it was not possible to cross the duct from the pulmonary artery. In 4 of those, the duct was small enough to be closed with coils delivered from the aorta (although 1 required a second procedure for a residual shunt). In the remaining 6 cases, it was necessary to cross the duct from the aorta and create an arterio-venous "circuit" using a snare to deliver an Amplatzer device from the femoral vein. In none of the 487 children who underwent transcatheter duct closure during the same time period was it necessary to deliver the device using an arterio-venous wire circuit. The increased complexity of the procedure in adults compared with children was further reflected by longer procedure times (median of 37 minutes in adults vs. 24 minutes in children [P < 0.01]) and longer fluoroscopy times (median of 8.4 minutes in adults vs. 4.3 minutes in children [P < 0.025]). There were no major complications. CONCLUSIONS: Closure of the arterial duct in adults is safe and effective but ductal anatomy may differ from that seen in childhood, making transcatheter closure technically much more demanding than in children.

Transcatheter closure of the arterial duct without arterial access.

OBJECTIVE: To evaluate the safety and efficacy of transcatheter occlusion of the arterial duct without femoral arterial catheterization. BACKGROUND: Patent arterial ducts have been closed percutaneously since the 1960s. It remains standard practice to use arterial access for aortography before, during, and after implantation of the device. Femoral arterial catheterisation has well recognised complications, and should be avoided unless absolutely necessary. METHODS: We reviewed prospectively collected data relating to 389 occlusions of the arterial duct performed consecutively between 1994 and 2004. We inserted Cook detachable coils in 288 instances using the Amplatzer duct occluder in the remaining 101. Information was obtained regarding procedural success, displacement of the device, and re-intervention. We have followed out patients for a median of 1.15 years in those closed with the Amplatzer device, and 1.09 years in those closed with a coil. RESULTS: In the patients in whom we used coils, occlusion was possible in 75% using venous access alone. We reintervened in 25 patients, because of embolisation of the device in 6, haemolysis in 5, and residual shunting in 14. On follow-up, complete occlusion had been achieved in 98%. We found trivial stenosis of the left pulmonary artery in 3 patients. When using the Amplatzer device, closure using venous access alone was achieved in 82%, and 2 patients required reintervention because of embolisation of the device. Complete occlusion had been achieved in all patients as judged by follow-up at 1 year, and 2 patients had trivial stenosis of the left pulmonary artery. CONCLUSION: Arterial catheterisation is unnecessary in the great majority of patients undergoing occlusion of the arterial duct. Use of venous catheterisation alone is safe, and does not appear to increase the risk of device-related complications.

Prenatal screening for major congenital heart disease: assessing performance by combining national cardiac audit with maternity data.

OBJECTIVE: Determine maternity hospital and lesion-specific prenatal detection rates of major congenital heart disease (mCHD) for hospitals referring prenatally and postnatally to one Congenital Cardiac Centre, and assess interhospital relative performance (relative risk, RR). METHODS: We manually linked maternity data (3 hospitals prospectively and another 16 retrospectively) with admissions, fetal diagnostic and surgical cardiac data from one Congenital Cardiac Centre. This Centre submits verified information to National Institute for Cardiovascular Outcomes Research (NICOR-Congenital), which publishes aggregate antenatal diagnosis data from infant surgical procedures. We included 120 198 unselected women screened prospectively over 11 years in 3 maternity hospitals (A, B, C). Hospital A: colocated with fetal medicine, proactive superintendent, on-site training, case-review and audit, hospital B: on-site training, proactive superintendent, monthly telemedicine clinics, and hospital C: sonographers supported by local obstetrician. We then studied 321 infants undergoing surgery for complete transposition (transposition of the great arteries (TGA), n=157) and isolated aortic coarctation (CoA, n=164) screened in hospitals A, B, C prospectively, and 16 hospitals retrospectively. RESULTS: 385 mCHD recorded prospectively from 120 198 (3.2/1000) screened women in 3 hospitals. Interhospital relative performance (RR) in Hospital A:1.68 (1.4 to 2.0), B:0.70 (0.54 to 0.91), C:0.65 (0.5 to 0.8). Standardised prenatal detection rates (funnel plots) demonstrating inter-hospital variation across 19 hospitals for TGA (37%, 0.00 to 0.81) and CoA (34%, 0.00 to 1.06). CONCLUSIONS: Manually linking data sources produced hospital-specific and lesion-specific prenatal mCHD detection rates. More granular, rather than aggregate, data provides meaningful feedback to improve screening performance. Automatic maternal and infant record linkage on a national scale, requires verified, prospective maternity audit and integration of health information systems.

Cardiac monitoring and treatment for children and adolescents with neuromuscular disorders.

Dilated cardiomyopathy, hypertrophic cardiomyopathy, and cardiac rhythm disturbances are important features of certain neuromuscular disorders in children, adolescents, and young adults. This article summarizes the cardiac features seen in patients with Duchenne muscular dystrophy, Becker muscular dystrophy, myotonic dystrophy, Friedreich's ataxia, and Emery-Dreifuss muscular dystrophy. The optimal management of these cardiac features remains contentious, but increasingly these patients are referred for routine cardiological assessment in the absence of symptoms. This article examines the value of routine screening and drug interventions for cardiac complications in asymptomatic and symptomatic individuals with neuromuscular disorders. We recommend a pragmatic approach, actively looking for cardiac conditions which will benefit from early intervention, but avoiding routine screening for asymptomatic conditions in which there is no evidence of benefit from early intervention.

New outpatient referrals to a tertiary paediatric cardiac centre: evidence of increasing workload and evolving patterns of referral.

OBJECTIVES: To assess the volume and range of diagnosis in new patients referred to paediatric cardiac outpatient clinics. METHODS: Data was collected prospectively, using a proforma completed at all outpatient clinics over a period of three months. RESULTS: There were 526 new referrals, representing an increase of almost one-fifth compared to 5 years ago. Of the referrals, 78 percent came from hospital doctors, and 22 percent from general practitioners, with 221 of those referred being infants. A heart murmur was the most common reason for referral, representing almost two-thirds of cases. In 372 patients referred (71 percent), the heart was discovered to be structurally normal. The proportion of patients with normal hearts referred by general practitioners and hospital doctors were 81 percent, and 68 percent, respectively (p less than 0.004). There was considerable variation in the pattern of referral between doctors working in different hospitals. CONCLUSION: New referrals to centres dealing with congenital cardiac malformations are increasing alarmingly, with the majority of the children referred having normal hearts. This increase in demand for specialist services has important implications for resources and training.

Survival after surgery or therapeutic catheterisation for congenital heart disease in children in the United Kingdom: analysis of the central cardiac audit database for 2000-1.

OBJECTIVES: To analyse simple national statistics and survival data collected in the central cardiac audit database after treatment for congenital heart disease and to provide long term comparative statistics for each contributing centre. DESIGN: Prospective, longitudinal, observational, national cohort survival study. SETTING: UK central cardiac audit database. MAIN OUTCOME MEASURES: Survival at 30 days and one year after treatment in the year April 2000-March 2001, assessed by using both volunteered life status and independently validated life status through the Office for National Statistics, using the patient's unique NHS number, or the general register offices of Scotland and Northern Ireland. Institutional results following a group of six benchmark operations and three benchmark catheterisation procedures. RESULTS: Since April 2000 data have been received from all 13 UK tertiary centres performing cardiac surgery or therapeutic cardiac catheterisation in children with congenital heart disease. Altogether 3666 surgical procedures and 1828 therapeutic catheterisations were performed. Central tracking of mortality identified 469 deaths, 194 occurring within 30 days and 275 later. Forty two of the 194 deaths within 30 days were detected by central tracking but not by volunteered data. For surgery overall, survival at 30 days was 94.9%, falling to 91.2% at one year; this effect was most marked for infants. For therapeutic catheterisation survival at 30 days was 99.1%, falling to 98.1% at one year. Survival of individual centres or individual operators did not differ from the national average after benchmark procedures. CONCLUSIONS: Independent data validation is essential for accurate survival analysis. One year survival gives a more realistic view of outcome than traditional perioperative mortality. Currently no detectable difference exists in survival between any of the 13 UK tertiary congenital heart disease centres, but confidence intervals for small centres are wide, limiting our power to detect underperformance from analysis of a single year's data. Appropriately resourced, focused national audit is capable of accurate data collection on which nationwide, long term quality control can be based.

Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.

Ellis-van Creveld syndrome (EvC) is an autosomal recessive skeletal dysplasia. Elsewhere, we described mutations in EVC in patients with this condition (Ruiz-Perez et al. 2000). We now report that mutations in EVC2 also cause EvC. These two genes lie in a head-to-head configuration that is conserved from fish to man. Affected individuals with mutations in EVC and EVC2 have the typical spectrum of features and are phenotypically indistinguishable.