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 of severe heart failure. Post-mortem examination showed the pathological features of lobar emphysema and cystic medial necrosis of the aorta. These features supported the diagnosis of neonatal Marfan syndrome. Nucleotide sequencing showed substitution of G by A at codon 1032 in exon 25 located in the long arm of chromosome 15. This resulted in the substitution of a cysteine by a tyrosine. A de novo mutation is suggested by the absence of affected family members.
Ng
D K
DK
Department of Paediatrics, Kwong Wah Hospital, Hong Kong, China. dkkng@ha.org.hk
Chau
K W
KW
Black
C
C
Thomas
T M
TM
Mak
K L
KL
Boxer
M
M
D006332:Cardiomegaly / Q000000981:diagnostic imaging; D017809:Fatal Outcome; D005260:Female; D000071837:Fibrillins; D006333:Heart Failure / Q000188:drug therapy / Q000209:etiology; D006801:Humans; D007231:Infant, Newborn; D008382:Marfan Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D008840:Microfilament Proteins / Q000235:genetics; D017354:Point Mutation; D016216:Ultrasonography, Prenatal
D000071837:Fibrillins; D008840:Microfilament Proteins