Pediatric Cardiology and Cardiac Surgery
Vol.27 No.6 2011 (262-269)
Toru Iwasa1）, Yuko Ban1）, Hiraku Doi2）, Hiroko Morisaki3）
1）Department of Pediatrics, Otsu Red-Cross Hospital, Shiga, Japan, 2）Department of Pediatrics, Kyoto University Hospital, Kyoto, Japan, 3）Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Osaka, Japan
Abstract
Neonatal Marfan syndrome (nMFS) is the severest form of classical Marfan syndrome (cMFS). Although both nMFS and cMFS are caused by defects in fibrillin (mutation of the FBN1 gene), and the skeletal anomalies are similar, nMFS patients show severe cardiopulmonary failure from birth or early infancy and a poor prognosis compared to cMFS patients. Effective treatment of nMFS has not been established and almost all patients died in early infancy. In Japan, only 12 cases of nMFS have been reported and their clinical courses and cardiopulmonary findings are similar to those of foreign cases. Because 2 cases with mitral valvuloplasty or mitral valve replacement were reported to be alive for more than 1 year after surgery among Japanese cases, intervention for mitral regurgitation may improve the prognosis. LA-PCR/MLPA methods enable us to diagnose nMFS with large deletion of FBN1.