- 著者
- Takahiro Motonaga Yuji Ohnishi Seigo Okada Yasuo Suzuki Takashi Furuta Mai Kawamura Naoko Okayama Yutaka Suehiro Shunji Hasegawa
- 出版者
- International Heart Journal Association
- 雑誌
- International Heart Journal (ISSN:13492365)
- 巻号頁・発行日
- pp.21-821, (Released:2022-07-14)
- 参考文献数
- 25
- 被引用文献数
- 2
Marfan syndrome is an autosomal dominant genetic disorder of the fibrous connective tissue caused by pathogenic mutations in the fibrillin-1 gene. Neonatal Marfan syndrome is a rare type of Marfan syndrome that is genotypically and phenotypically different from classical Marfan syndrome and has a poor prognosis. Most patients with neonatal Marfan syndrome die during infancy due to severe and rapidly progressive cardiovascular disorders. Here, we present a case of an 11-year-old girl with neonatal Marfan syndrome due to a novel missense mutation in exon 27 of the fibrillin-1 gene. Her condition was critical due to progressive mitral and tricuspid regurgitation. Mitral valve replacement, performed at the age of 6 months, improved her critical condition. Our case suggests that early mitral valve replacement may lead to better outcomes in patients with neonatal Marfan syndrome.