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Phenotypic variability of cardiovascular manifestations in Marfan Syndrome. Possible role of hyperhomocysteinemia and C677T MTHFR gene polymorphism.

Abstract：

AIMS: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. METHODS AND 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.

journal_name

Eur Heart J

journal_title

European heart journal

authors

Giusti B,Porciani MC,Brunelli T,Evangelisti L,Fedi S,Gensini GF,Abbate R,Sani G,Yacoub M,Pepe G

doi

10.1016/j.ehj.2003.08.020

subject

Has Abstract

pub_date

2003-11-01 00:00:00

pages

2038-45

issue

22

eissn

0195-668X

issn

1522-9645

pii

S0195668X03005669

journal_volume

24

pub_type

杂志文章

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