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Neonatal Marfan syndrome: a case report
1Department of Paediatrics, Kwong Wah Hospital, Hong Kong, China. dkkng@ha.org.hk
Journal of Paediatrics and Child Health
|July 15, 1999
Summary
Neonatal Marfan syndrome, a severe genetic disorder, was diagnosed in an infant presenting with heart abnormalities and distinctive physical features. Genetic analysis revealed a de novo mutation in the FBN1 gene, confirming the condition.
Area of Science:
- Genetics
- Cardiology
- Pediatrics
Background:
- Marfan syndrome is a genetic disorder affecting connective tissue.
- Neonatal Marfan syndrome is a severe, early-onset form with significant cardiovascular and respiratory complications.
Observation:
- A case of neonatal Marfan syndrome is presented.
- The infant exhibited cardiomegaly, tricuspid regurgitation, long digits, aged appearance, and hypotonia.
- Antenatal ultrasound detected cardiomegaly and tricuspid regurgitation.
Findings:
- Echocardiogram showed a dilated right atrium and ventricle, dysplastic tricuspid valve, and severe tricuspid regurgitation.
- Post-mortem examination revealed lobar emphysema and cystic medial necrosis of the aorta.
- Genetic analysis identified a de novo mutation (G to A substitution at codon 1032, exon 25) in the FBN1 gene on chromosome 15, leading to a cysteine-to-tyrosine substitution.
Implications:
- This case highlights the critical role of early diagnosis and genetic analysis in neonatal Marfan syndrome.
- Understanding the specific mutation provides insights into Marfan syndrome pathogenesis.
- The findings underscore the severe prognosis of neonatal Marfan syndrome, often leading to early mortality from heart failure.