BSPED2010 Poster Presentations (1) (59 abstracts)
Cardiac abnormalities in children with congenital hyperinsulinism (CHI)
AS Petkar 1 , G Ciotti 2 , L Rigby 2 , L Patel 2 , S Ehtisham 2 , P E Clayton 3 , I Banerjee 2 , M Skae 2 , M Didi 4 & J Blair 4
1Tameside General Hospital, Ashton-under-Lyne, Tameside, UK; 2Royal Manchester Children’s Hospital, Manchester, UK; 3Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK; 4Alderhey Children’s Hospital, Liverpool, UK.
Congenital hyperinsulinism of Infancy (CHI) can be associated with cardiac problems such as septal hypertrophy and reversible hypertrophic cardiomyopathy (Breitweser et al. 1980, Harris et al. 1992); however, the prevalence and range of cardiac abnormalities in CHI has not been well investigated.
Aims and methods: With National Research Ethics Service approval and consent, we retrospectively reviewed the prevalence of cardiac abnormalities in 48 children with CHI. Forty-three patients were genotyped for potassium channel (KATP) mutations. Echocardiography was used to detect structural abnormalities and parameters for left/right/biventricular hypertrophy (LVH/RVH/BVH) and interventricular septal thickness in diastole (IVSd) were used to quantify myocardial dysfunction, with serial echocardiography to assess cardiac improvement. Electrocardiograms (ECG) were used to corroborate muscle hypertrophy.
Results: In our cohort of 48 children, 94% (45/48) required diazoxide therapy for CHI management and 48.8% (21/43) had positive KATP mutations. Median age at echocardiography was 23 days (5 days to 10.8 years). Cardiac structural abnormalities were present in 15 (31%) (5 patent ductus arteriosus, 4 atrial septal defect, 2 ventricular septal defect, 2 branch pulmonary artery stenosis, 1 atrial stenosis and 1 aberrant subclavian artery). Myocardial hypertrophy was present in 26(54%) (20 LVH, 1 RVH, 5 BVH) with increased IVSd in 8(17%) children with LVH. ECG abnormalities consistent with myocardial hypertrophy were present in only 24% (5/21). Cardiac medications (diuretics, digoxin, beta blockers) were required in 7 (15%), with improved function and discontinuation of therapy in 6 (75%). No significant associations were found between birthweights, genotypes and cardiac defects using Chi-squared analysis.
Conclusion: Our results show that a third of CHI patients have cardiac defects. Almost a fifth had symptomatology severe enough to require treatment, with reversible pathology in 75%. We advocate early cardiac assessment in infants with CHI, with baseline echocardiography as the investigation of choice.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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