Return of genetic and genomic research findings: experience of a pediatric biorepository.

BACKGROUND: Assess process, uptake, validity and resource needs for return of actionable research findings to biobank participants. METHODS: Participants were prospectively enrolled in a multicenter biorepository of childhood onset heart disease. Clinically actionable research findings were reviewed by a Return of Research Results Committee (RRR) and returned to the physician or disclosed directly to the participant through a research genetic counselor. Action taken following receipt of this information was reviewed. RESULTS: Genetic data was generated in 1963 of 7408 participants. Fifty-nine new findings were presented to the RRR committee; 20 (34%) were deemed reportable. Twelve were returned to the physician, of which 7 were disclosed to participants (median time to disclosure, 192 days). Seven findings were returned to the research genetic counselor; all have been disclosed (median time to disclosure, 19 days). Twelve families (86%) opted for referral to clinical genetics after disclosure of findings; 7 results have been validated, 5 results are pending. Average cost of return and disclosure per reportable finding incurred by the research program was $750 when utilizing a research genetic counselor; clinical costs associated with return were not included. CONCLUSIONS: Return of actionable research findings was faster if disclosed directly to the participant by a research genetic counselor. There was a high acceptability amongst participants for receiving the findings, for referral to clinical genetics, and for clinical validation of research findings, with all referred cases being clinically confirmed.

Retroesophageal brachiocephalic artery assessed by magnetic resonance imaging: a case report and literature review.

A right aortic arch with a retroesophageal brachiocephalic artery is a very rare type of vascular ring. We present a case report along with a review of published cases to date. Twelve publications from 1968-2014 describe a retroesophageal brachiocephalic artery in a total of 13 patients. The mean age at diagnosis was 8.7 ± 16 years. Four of the 13 patients were boys. Nearly half of the patients were symptomatic, with dysphagia or respiratory difficulties. Ten patients (77%) had associated congenital heart defects. Of the 13 patients with retroesophageal brachiocephalic artery, 12 had a right aortic arch, and only 1 had a left aortic arch associated with complex congenital heart disease. Investigations used in the diagnosis of the vascular ring include angiography, esophagography, echocardiography, and computed tomography. Only 2 patients had the diagnosis confirmed with magnetic resonance imaging (MRI), but this was in the setting of complex congenital heart disease. In conclusion, a right aortic arch with a retroesophageal left brachiocephalic artery is an extremely rare form of vascular ring and is often seen in association with other forms of congenital heart disease. Cardiac MRI can be used as a primary diagnostic modality for both the assessment of the vascular ring anatomy and the hemodynamics of associated cardiac malformations in the preoperative setting.

Repeated systematic surveillance of Kawasaki disease in Ontario from 1995 to 2006.

BACKGROUND: Rising incidences of Kawasaki disease (KD) have been reported worldwide. Reported herein are the results of 4 triennial KD surveillances conducted in Ontario. METHODS: Between 1995 and 2006 all hospitals in Ontario were asked on 4 occasions to identify all patients with discharge diagnoses of KD and report incident cases. RESULTS: The latest surveillance identified 697 new KD patients (100% response rate) for a total of 2378 KD patients through all 4 surveillances. Yearly incidence was 26.2/100,000 for <5 years old, 6.7/100,000 for 5-9 years old and 0.9/100,000 for 10-14 years old. KD incidence significantly increased from 1995 to 2006, although the increase seemed to plateau between the 3rd and 4th surveillance. There was an increase in the proportion of patients diagnosed with incomplete KD and a significant reduction in the rate of coronary artery abnormalities, possibly due to better disease recognition and treatment. Hospitals reporting <20 cases per surveillance were found to be more likely to report cases with incomplete KD. These patients were also less likely to be treated with i.v. immunoglobulin and aspirin but were more likely to be treated with antibiotics, suggesting uncertainties regarding diagnosis and management of KD patients in those centers. CONCLUSIONS: The incidence of KD in Ontario is possibly one of the highest outside of Asia and has been rising since 1995. Although the most recent surveillance demonstrated improved cardiac outcomes, treatment delays or absence thereof continue to be a problem. Effective diagnosis and prompt treatment remain critical aspects of KD management.

Effect of activity restriction owing to heart disease on obesity.

OBJECTIVE: To determine whether exercise intolerance and recommended activity restrictions are associated with development of overweight and obesity in children with congenital heart disease. DESIGN: Retrospective review. SETTING: Pediatric cardiology practice at a teaching hospital. PARTICIPANTS: A total of 110 pediatric congenital heart disease patients followed up for a mean of 8.4 years. MAIN OUTCOME MEASURES: Body mass index (BMI), sex-appropriate BMI percentiles, overweight (BMI percentile > or =85), and obesity (BMI percentile > or =95) at follow-up. RESULTS: As a group, the increase in BMI percentiles was close to 10 points, but the increase was 21.6 points for exercise intolerant children and 27.3 points for activity restricted children. Activity restriction was significantly associated with both overweight (risk ratio [RR], 2.60; 95% confidence interval [CI], 1.34-3.54) and obesity at follow-up (RR, 4.08; 95% CI, 1.42-7.38) after adjusting for weight at baseline. For the subset of 92 children at a healthy weight at baseline, activity restriction was again significantly associated with overweight (RR, 2.51; 95% CI, 1.24-3.52) and obesity (RR, 6.14; 95% CI, 2.54-8.82) at follow-up. Exercise intolerance did not attain statistical significance. CONCLUSIONS: Exercise intolerant and activity restricted children experienced larger increases in absolute BMI and BMI percentile than children with neither exercise intolerance nor activity restriction. Activity restriction was the strongest predictor of risk of overweight and obesity at follow-up. Elevated weight and obesity may cause these children significant additional health burdens. Therefore, when patients must be counseled against physical exertion, they also need to be educated about the importance of appropriate physical activity and good dietary practices.