title: 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.affiliation: German Heart Center and 1st Department of Medicine, Klinikum rechts der Isar, University of Technology, Lazarettstrasse 36, 80636 Munich, Germany.
authors.forename: C
authors.initials: C
authors.lastname: Schulz
authors.forename: W
authors.initials: W
authors.lastname: Kress
authors.forename: A
authors.initials: A
authors.lastname: Schömig
authors.forename: R
authors.initials: R
authors.lastname: Wessely
mesh_terms: D000328:Adult; D049109:Cell Proliferation; D003394:Craniofacial Dysostosis / Q000175:diagnosis / Q000235:genetics; D004452:Echocardiography / Q000379:methods; D004694:Endocardial Cushion Defects / Q000235:genetics*; D005260:Female; D005786:Gene Expression Regulation; D005799:Genes, Dominant; D006801:Humans; D009154:Mutation; D010641:Phenotype; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*; D013577:Syndrome
chemical_list: C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2