title: AGT and ACE genes influence classic mitral valve prolapse predisposition in Marfan patients.
abstract: BACKGROUND
  In Marfan syndrome, the mitral valve prolapse, ranging from nonclassic to classic form on the basis of the leaflet thickness, is a common condition characterized by a highly variable structural abnormality. We investigated the role of angiotensinogen (AGT) M235T, angiotensin converting enzyme (ACE) I/D and angiotensin II type 1 receptor (AT1R) A1166C polymorphisms in influencing the susceptibility to classic or non-classic mitral valve prolapse in Marfan patients.
  
  
  METHODS
  We studied 135 Marfan patients with mitral valve prolapse, diagnosed by echocardiography. AGT, ACE, and AT1R polymorphisms were identified by polymerase chain reaction-based restriction analysis.
  
  
  RESULTS
  The frequency of the ACE D, but not AGT 235T and AT1R 1166C allele, was significantly higher in patients with classic mitral valve prolapse in comparison to that observed in the non-classic one (p=0.03). The percentage of subjects with the contemporaneous presence of ACE D and AGT 235T alleles was significantly higher in the classic mitral valve prolapse group in comparison to the non-classic one (79% vs. 55%, respectively; p=0.008). The concomitant presence of these two alleles was associated with increased susceptibility to the classic mitral valve prolapse (OR 3.02, p=0.016).
  
  
  CONCLUSIONS
  Our findings show a possible role of ACE and AGT genes as predisposing factors to classic mitral valve prolapse in Marfan patients, thus suggesting a role of renin angiotensin system genes in modulating mitral valve abnormality, and the need for an interventional study with angiotensin II type 1 receptor antagonists, which considers the leaflet thickness progression in Marfan patients with MVP.
authors: Department of Medical and Surgical Critical Care, University of Florence, Italy. cinziafatini@hotmail.com
authors: Cinzia
authors: C
authors: Fatini
authors: Monica
authors: M
authors: Attanasio
authors: Cristina
authors: C
authors: Porciani
authors: Elena
authors: E
authors: Sticchi
authors: Luigi
authors: L
authors: Padeletti
authors: Ilaria
authors: I
authors: Lapini
authors: Rosanna
authors: R
authors: Abbate
authors: Gian Franco
authors: GF
authors: Gensini
authors: Guglielmina
authors: G
authors: Pepe
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D000808:Angiotensinogen / Q000235:genetics*; D016022:Case-Control Studies; D018618:Echocardiography, Doppler, Color; D005260:Female; D005786:Gene Expression Regulation; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis / Q000235:genetics*; D008945:Mitral Valve Prolapse / Q000000981:diagnostic imaging / Q000235:genetics*; D016017:Odds Ratio; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D011110:Polymorphism, Genetic; D011336:Probability; D012016:Reference Values; D012680:Sensitivity and Specificity
chemical_list: D000808:Angiotensinogen; D007703:Peptidyl-Dipeptidase A