title: Phenotypic variability of cardiovascular manifestations in Marfan Syndrome. Possible role of hyperhomocysteinemia and C677T MTHFR gene polymorphism.
abstract: OBJECTIVE
  The aim of this study was to evaluate (1) homocysteinemia and the prevalence of the C677T MTHFR polymorphism in Marfan patients and (2) whether the severity of cardiovascular manifestations is associated with homocysteinemia and/or C677T polymorphism.
  
  
  RESULTS
  We studied 107 patients subdivided into three subgroups based on the severity of cardiovascular manifestations: (A) no involvement (n=4); (B) mild involvement (n=45); (C) aortic dilatation or aortic dissection (n=58), and 189 controls. Total homocysteine (tHcy) was significantly higher in subgroup C than in subgroup B. In subgroup C patients with dissection tHcy was higher than in those without dissection. In subgroup C the prevalence of 677T homozygotes was higher, but not significantly, than in the subgroup B. In patients with dissection the prevalence of 677T homozygotes was significantly higher than in those without dissection and than in subgroup B. In the logistic regression analysis, severe cardiovascular manifestations and aortic dissection in Marfan patients were associated with tHcy plasma levels.
  
  
  CONCLUSIONS
  Our data indicate an association between the severity of the cardiovascular manifestations, in particular aortic dissection, and elevated tHcy levels. This suggests an important role for tHcy in determining phenotypic variability in Marfan patients and provides further evidence for the association of homocysteinemia with the damage of the vascular system.
authors: Dipartimento di Area Critica Medico Chirurgica, University of Florence, Florence, Italy. labtrombosi@ao-careggi.toscana.it
authors: Betti
authors: B
authors: Giusti
authors: Maria Cristina
authors: MC
authors: Porciani
authors: Tamara
authors: T
authors: Brunelli
authors: Lucia
authors: L
authors: Evangelisti
authors: Sandra
authors: S
authors: Fedi
authors: Gian Franco
authors: GF
authors: Gensini
authors: Rosanna
authors: R
authors: Abbate
authors: Guido
authors: G
authors: Sani
authors: Magdi
authors: M
authors: Yacoub
authors: Guglielmina
authors: G
authors: Pepe
mesh_terms: D000293:Adolescent; D000328:Adult; D000784:Aortic Dissection / Q000097:blood / Q000235:genetics; D001014:Aortic Aneurysm / Q000097:blood / Q000235:genetics; D002318:Cardiovascular Diseases / Q000097:blood / Q000235:genetics*; D005260:Female; D006710:Homocysteine / Q000097:blood; D006801:Humans; D020138:Hyperhomocysteinemia / Q000235:genetics*; D016015:Logistic Models; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics*; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D010641:Phenotype; D011110:Polymorphism, Genetic; D012720:Severity of Illness Index
chemical_list: D006710:Homocysteine; D042965:Methylenetetrahydrofolate Reductase (NADPH2)