Endocardial cushion defect in a patient with Crouzon syndrome carrying a mutation in the fibroblast growth factor receptor (FGFR)-2 gene.

Abstract

Crouzon syndrome is an autosomal dominant disorder caused by mutation in the fibroblast growth factor receptor (FGFR)-2 gene. Recent findings from animal studies imply a critical role for FGFs in the regulation of cardiac development including cardiac cushion proliferation and valvulogenesis. We report on a 36-year-old woman, who required surgical closure for an atrial septal defect, a clinical feature that has not been previously reported in other patients with Crouzon syndrome. The findings suggest that cardiac investigations are warranted in patients with a diagnosis of Crouzon syndrome.

• Authors: C Schulz, W Kress, A Schömig, R Wessely
• Journal: Clinical genetics (Clin Genet) Vol. 72 Issue 4 Pg. 305-7 (Oct 2007) ISSN: 0009-9163 [Print] Denmark
• PMID: 17850625 (Publication Type: Case Reports, Journal Article)

Chemical References

• FGFR2 protein, human
• Receptor, Fibroblast Growth Factor, Type 2

Topics

• Adult
• Cell Proliferation
• Craniofacial Dysostosis (diagnosis, genetics)
• Echocardiography (methods)
• Endocardial Cushion Defects (genetics)
• Female
• Gene Expression Regulation
• Genes, Dominant
• Humans
• Mutation
• Phenotype
• Receptor, Fibroblast Growth Factor, Type 2 (genetics)
• Syndrome