P03.13: Neonatal Marfan syndrome

Neonatal Marfan syndrome: a case report.

A case of neonatal Marfan syndrome is presented. The patient was noted to have cardiomegaly and tricuspid regurgitation on antenatal ultrasound scan. She was born with long, slender fingers and toes, an aged appearance and non-paralytic hypotonia. Echocardiogram revealed a dilated right atrium, right ventricle, dysplastic tricuspid valve and severe tricuspid regurgitation. She subsequently died...

Neonatal Marfan Syndrome: Report of Two Cases

Marfan syndrome is rarely diagnosed in the neonatal period because of variable expression and age-dependent appearance of clinical signs. The prognosis is usually poor due to high probability of congestive heart failure, mitral and tricuspid regurgitations with suboptimal response to medical therapy and difficulties in surgical management. The authors have studied two cases of Marfan syndrome i...

Marfan syndrome and pregnancy: maternal and neonatal outcomes

OBJECTIVE To report outcomes in a recent series of pregnancies in women with Marfan syndrome (MFS). DESIGN Retrospective case note review. SETTING Tertiary referral unit (Chelsea and Westminster and Royal Brompton Hospitals). SAMPLE Twenty-nine pregnancies in 21 women with MFS between 1995 and 2010. METHODS Multidisciplinary review of case records. MAIN OUTCOME MEASURES Maternal and n...

A recurring FBN1 gene mutation in neonatal Marfan syndrome.

BACKGROUND Marfan syndrome is an autosomal dominant disorder of connective tissue caused by mutations in the fibrillin 1 gene (FBN1). FBN1 mutations have been associated with a broad spectrum of phenotypes. Neonatal Marfan syndrome has unique clinical manifestations and mutations. OBJECTIVE To determine if there is a discernible genotypic-phenotypic correlation associated with the unique muta...

Marfan syndrome.