Structural heart defects associated with ETB mutation, a cause of Hirschsprung disease

Abstract

Highlights ETB −/− HSCR model was associated with body-growth impairment; neonatal sl/sl rat has 16% less bodyweight than the control group. sl/sl rat has a normal cardiac morphology. Significant reductions were detected in cardiac structures of sl/sl rats: 40% in whole-heart volume, 20% in growth rate, and 25% in whole heart/bodyweight ratios. Similar trend was observed in the measurements of LA, LV, RA, and RV No consistent correlation was observed between ETB genotype and aortic arch sizes. These findings supported HSCR patients may have various degrees of neonatal cardiac anomalies; wholistic post-operative care should be considered, including screening for cardiac risk factors. In consideration of the result from this paper, genotyping study of patients with and without heart failure would be an interesting step study to evaluate possible correlation between ETB genotype and risks of hypertension, ischemic heart disease, exercise capacity, and heart failure.

Keywords

• Hirschsprung disease
• Heart defects
• Endothelin-B mutation
• Spotting-lethal rat