PURPOSE: Rieger Syndrome (RS) is an autosomal dominant disease, in which Axenfeld's and Rieger's anomalies are associated with typical facial dysmorphism and other extra-ocular findings. Cardiovascular defects are considered an occasional finding in this syndrome. METHODS: We describe a RS case in which the typical ocular and dysmorphic features were associated with bicuspid aortic valve. A review of the literature is provided. RESULTS: A total of 15 other cases of Axenfeld's or Rieger's anomaly associated with cardiovascular defects have been reported. In the cases in which the diagnosis of RS could be clinically performed, the cardiac defect mostly involved the outflow tract structures. CONCLUSION: The hypothesis that this association could be non-coincidental is discussed. The proved genetic heterogeneity of RS, based on clinical and molecular evidence, may suggest that RS is a contiguous gene syndrome or RS with cardiac defect is a separate entity. Finally we suggest a careful cardiological evaluation in RS patients, to assess the real frequency of cardiac defects in this syndrome.
PURPOSE:Rieger Syndrome (RS) is an autosomal dominant disease, in which Axenfeld's and Rieger's anomalies are associated with typical facial dysmorphism and other extra-ocular findings. Cardiovascular defects are considered an occasional finding in this syndrome. METHODS: We describe a RS case in which the typical ocular and dysmorphic features were associated with bicuspid aortic valve. A review of the literature is provided. RESULTS: A total of 15 other cases of Axenfeld's or Rieger's anomaly associated with cardiovascular defects have been reported. In the cases in which the diagnosis of RS could be clinically performed, the cardiac defect mostly involved the outflow tract structures. CONCLUSION: The hypothesis that this association could be non-coincidental is discussed. The proved genetic heterogeneity of RS, based on clinical and molecular evidence, may suggest that RS is a contiguous gene syndrome or RS with cardiac defect is a separate entity. Finally we suggest a careful cardiological evaluation in RS patients, to assess the real frequency of cardiac defects in this syndrome.
Authors: Russell A Norris; Brook Damon; Vladimir Mironov; Vladimir Kasyanov; Anand Ramamurthi; Ricardo Moreno-Rodriguez; Thomas Trusk; Jay D Potts; Richard L Goodwin; Jeff Davis; Stanley Hoffman; Xuejun Wen; Yukiko Sugi; Christine B Kern; Corey H Mjaatvedt; Debi K Turner; Toru Oka; Simon J Conway; Jeffery D Molkentin; Gabor Forgacs; Roger R Markwald Journal: J Cell Biochem Date: 2007-06-01 Impact factor: 4.429
Authors: Erin Kaltenbrun; Panna Tandon; Nirav M Amin; Lauren Waldron; Chris Showell; Frank L Conlon Journal: Birth Defects Res A Clin Mol Teratol Date: 2011-04-28
Authors: F Castinetti; R Reynaud; M-H Quentien; N Jullien; E Marquant; C Rochette; J-P Herman; A Saveanu; A Barlier; A Enjalbert; T Brue Journal: J Endocrinol Invest Date: 2014-09-09 Impact factor: 4.256
Authors: Nicole L Maciolek; Wallace L M Alward; Jeffrey C Murray; Elena V Semina; Mark T McNally Journal: BMC Med Genet Date: 2006-07-11 Impact factor: 2.103
Authors: Russell A Norris; Ricardo Moreno-Rodriguez; Stanley Hoffman; Roger R Markwald Journal: J Cell Commun Signal Date: 2009-10-02 Impact factor: 5.782