Birth Prevalence of Chromosome 22q11.2 Deletion Syndrome: A Systematic Review of Population-Based Studies.

Background: A birth prevalence of chromosome 22q11.2 deletion syndrome among population-based reports has been documented to vary, however, a systematic assessment is lacking. Objective: To assess the evidence in the literature for the birth prevalence of chromosome 22q11.2 deletion syndrome. Material and Method: A systematic literature search was conducted through PubMed between 1992 and June 2016 using search terms of 22q11.2 deletion OR 22q11 deletion and prevalence. Results: Of the six studies reported, there were 156 patients with 22q11.2 deletion syndrome found in total study populations of 1,111,336 live births. According to countries, the birth prevalence of this deletion syndrome (95% confidence interval) from United States, Belgium, Sweden, United Kingdom, France, and Singapore were 1.68 (1.22-2.26), 1.56 (1.33-1.72), 1.36 (0.91-2.08), 1.30 (0.45-2.15), 1.03 (0.53-2.23), and 1.02 per 10,000 live births, respectively. Estimates of minimum prevalence rates on the basis of the presence of this syndrome in cohorts of patients with cardiovascular malformations were from one in 4,000 to one in 7,092 live births. Conclusion: This systematic review indicates that the 22q11.2 deletion syndrome is rather common. The findings can help physicians, health care planners and other health professionals to plan and manage better care of these patients.

Antibiotics for brain abscesses in people with cyanotic congenital heart disease.

BACKGROUND: Brain abscess is a focal, intracerebral infection that begins as a localized area of brain infection and develops into a collection of pus surrounded by a well-vascularized capsule. People with cyanotic congenital heart disease are at risk of developing brain abscess. OBJECTIVES: To evaluate the effectiveness of antibiotic regimens for treating brain abscess in people with cyanotic congenital heart disease. SEARCH METHODS: We updated the searches of the Cochrane Central Register of Controlled Trials (CENTRAL) on The Cochrane Library Issue 12 of 12, December 2012, MEDLINE Ovid (1946 to December Week 4 2012), EMBASE Ovid (1980 to 2013 Week 01) and LILACS (1980 to 9 January 2013) on 9 January 2013. No language or publication restrictions were applied. SELECTION CRITERIA: Randomized controlled trials that reported clinically meaningful outcomes and presented results on an intention to treat basis, irrespective of blinding, publication status, or language. DATA COLLECTION AND ANALYSIS: Data were to be extracted, unblinded, by the two reviewers independently. MAIN RESULTS: No studies meeting the inclusion criteria were identified. AUTHORS' CONCLUSIONS: There are no randomized controlled trials about the effectiveness of antibiotic regimens for treating people with cyanotic congenital heart disease who developed a brain abscess. Currently, the antibiotic regimens used are based on previous retrospective studies and clinical experience. There is a need for a well designed multicentre randomized controlled trial to evaluate the effects of different antibiotic regimens.

Evolution of valve damage in Sydenham's chorea during recurrence of rheumatic fever.

BACKGROUND: The evolution of valve damage during a recurrence, in a patient who did not have apparent carditis in the initial attack of Sydenham's chorea, has been a subject of debate. METHODS: Thirty-six patients with an initial episode of acute rheumatic fever and Sydenham's chorea (3 patients with subclinical mitral regurgitation) were followed up prospectively for 5 years. Clinical examinations and transthoracic color Doppler echocardiography were done for each patient at initial attacks of Sydenham's chorea and at recurrences of rheumatic fever. RESULTS: Six recurrences of rheumatic fever occurred in 6 of the 36 patients. One recurrence developed in the regular secondary prophylaxis group (27 patients) with a recurrence rate of 0.007 per patient-year. Three of the 18 patients who initially had no heart murmur and no echocardiographic finding of valvular regurgitation had three recurrences of pure chorea with no echocardiographic evidence of significant valvular regurgitation. Interestingly, one of the 3 patients with previous pure chorea and echocardiographic finding of significant mitral regurgitation had a recurrence of pure chorea and new echocardiographic evidence of mitral, aortic and tricuspid regurgitations. Furthermore, two recurrences occurring in 2 of the 15 patients with previous carditis developed echocardiographic evidence of new carditis. CONCLUSIONS: Rheumatic recurrence can develop new valve damage evident by echocardiography for the patient with pure Sydenham's chorea who had previous subclinical valvulitis. Longer duration of secondary prophylaxis is recommended to prevent a recurrence of rheumatic fever in the patient with pure Sydenham's chorea who initially had subclinical valvulitis.

Kawasaki disease in central area of Northeast Thailand.

Kawasaki disease (KD) is a leading cause of acquired heart disease of childhood. The authors retrospectively reviewed cases of KD in major referral centers of central Northeast Thailand from July 1991 to June 2003. Seventy-three episodes occurring in 72 patients were diagnosed with KD by the American Heart Association criteria with a mean age of presentation of 27 +/- 19 months. The annual incidence was 2.2 per 100,000 children < 5 years of age. Coronary artery abnormalities (CAA) were found in 15 (20.5%) children. Nine patients (18%) who were diagnosed before 10 days were not treated with intravenous immunoglobulin (IVIG). Two (13%) of the 15 patients still had coronary lesions at the end of the follow-up period of 35.5 +/- 13.4 months. Index of suspicious should be maintained in children who had clinical signs of KD for early diagnosis and prompt treatment with IVIG.

Aortoesophageal fistula: a life-threatening cause of upper gastrointestinal hemorrhage in double aortic arch, a case report.

The authors present the case of a 2-month-old infant with double aortic arch that developed massive bright red upper gastrointestinal hemorrhage from aortoesophageal fistula (AEF) after prolonged endotracheal and nasogastric intubation. Emergency thoracotomy with AEF and double aortic arch repaired were done successfully under cardiopulmonary bypass. Due to tracheomalacia and left phrenic nerve injury, tracheal extubation could not be done until 1 month after correction of the vascular ring. The endotracheal and nasogastric tube led to fistula formation by compression of the esophageal wall against an abnormal double aortic arch. When a double aortic arch is suspected, prolonged nasogastric intubation should be avoided.

The relationship of carditis to the initial attack of Sydenham's chorea.

BACKGROUND: The natural history of valvular regurgitation detected by echocardiography in Sydenham's chorea has been lacking. METHODS: Clinical assessment and transthoracic color Doppler echocardiography were independently performed for each patient with an initial attack of Sydenham's chorea and also for each normal control (Khon Kaen University, Thailand; 1991-2001) at the time of their presentations. Serial clinical examinations and echocardiography were done for each patient at 1- and at 5-year follow-up. RESULTS: Of 44 patients, 17 (39%) had carditis (valvulitis) evident by auscultation at the time of the initial attack. Three (11%) of the 27 patients with no clinical evidence of carditis had echocardiographic evidence of acute mitral regurgitation (subclinical valvulitis). All 17 patients with carditis had echocardiographic evidence of acute mitral regurgitation. None of the 88 control children had evidence of pathologically significant valvular regurgitation. Of the 15 patients with carditis regularly followed, the persistence of a mitral regurgitation murmur and of pathologically significant valvular regurgitation by echocardiography were 33% (5/15) and 60% (9/15), respectively, at 1-year follow-up, but the persistence of both was 25% (1/4) at 5-year follow-up. CONCLUSIONS: Color Doppler echocardiography is a useful tool in the early diagnosis of rheumatic carditis (valvulitis) and at 1-year follow-up of rheumatic valvular heart disease in the patients with initial Sydenham's chorea but the incremental benefit beyond 5 years after the initial attack might be minimal.