A Case of Neonatal Marfan Syndrome with Medical Management （propranolol, losartan etc.） since 1 Month of Age and Mitral Valve Replacement at 5 Years of Age

Abstract

Neonatal Marfan syndrome (nMFS) is a rare disease with extremely poor prognosis due to severe cardiopulmonary failure that may be present at birth or develop during early infancy. In Japan, only 12 cases of nMFS have been reported to date. Here we report a female nMFS patient who received propranolol from 1 month of age, losartan from 2 months of age, and mitral valve replacement at 5 years of age. On the second day after birth, she was presented to a local hospital with poor sucking and vomiting. She also had arachnodactyly and a senile appearance. Echocardiograms demonstrated dilatation of the aortic root, mitral valve prolapse, and mitral regurgitation. She was referred to our hospital at 26 days of age after diagnosis of nMFS. Sequence analysis of the fibrillin-1 gene identified a mutation in exon 24 (Gly1013Arg). During follow-up, mitral regurgitation worsened progressively despite administration of diuretics, propranolol, losartan, and enalapril, and mitral valve replacement with a St. Jude Medical valve (25 mm) was performed successfully at 5 years of age. Histopathological evaluation revealed myxomatous thickening of the mitral valve. Ectopia lentis and progression of scoliosis were also observed during follow-up. At the time of this report, she was 7 years old and has had an uneventful postoperative course. Thus, losartan showed a potential role in the treatment of nMFS in the present case； however, more case studies are necessary to establish its efficacy.