Objectives: Isolated congenital mitral regurgitation is rare and when presenting in infancy, often represents a severe malformation. The natural history may be fatal and early management remains a therapeutic challenge. These infants are poorly understood largely due to limited experience in each institution and a lack of reporting in the medical literature.

Methods: We performed a review of children presenting with isolated congenital mitral regurgitation at our centre over a 10 year period. Patients were identified from our echocardiography database.

Results: Seven patients were identified with isolated congenital mitral regurgitation: an associated patent ductus arteriosus was present in 2. Median age at referral was 12 weeks, (1 day to 43 weeks). Median weight was 6.9 kg, (3.7 to 10.4 kg). Two infants were managed conservatively and 1 underwent surgical ligation of a patent ductus arteriosus. Following ductal closure, no further intervention was required in two infants. The remaining four infants underwent 3 valve repairs and 3 valve replacements. The in-hospital mortality was 29% (2 patients), in both cases occurring following emergency mitral surgery under one year of age. Two re-operations occurred following mitral repair and no significant complications or late deaths occurred.

Conclusions: Our experience suggests closure of a patent ductus arteriosus should be undertaken prior to mitral valve surgery. There may be a poorer prognosis in those under one year of age requiring emergency mitral valve surgery. Those who can be managed conservatively or undergo mitral valve surgery as an elective procedure tend to have a better outcome.