当前位置： SCI文献检索 > JOURNAL OF HYPERTENSION期刊下所有文献 > Aortic dilatation in Marfan syndrome: role of arterial stiffness and fibrillin-1 variants.

Aortic dilatation in Marfan syndrome: role of arterial stiffness and fibrillin-1 variants.

Abstract：

OBJECTIVE:Marfan syndrome (MFS) is an autosomal dominant genetic disorder characterized by aortic root dilation and dissection and an abnormal fibrillin-1 synthesis. In this observational study, we evaluated aortic stiffness in MFS and its association with ascending aorta diameters and fibrillin-1 genotype. METHODS:A total of 116 Marfan adult patients without history of cardiovascular surgery, and 144 age, sex, blood pressure and heart rate matched controls were enrolled. All patients underwent arterial stiffness evaluation through carotid-femoral pulse wave velocity (PWV) and central blood pressure waveform analysis (PulsePen tonometer). Fibrillin-1 mutations were classified based on the effect on the protein, into 'dominant negative' and 'haploinsufficient' mutations. RESULTS:PWV and central pulse pressure were significantly higher in MFS patients than in controls [respectively 7.31 (6.81-7.44) vs. 6.69 (6.52-6.86) m/s, P = 0.0008; 41.3 (39.1-43.5) vs. 34.0 (32.7-35.3) mmHg, P < 0.0001], with a higher age-related increase of PWV in MFS (β 0.062 vs. 0.036). Pressure amplification was significantly reduced in MFS [18.2 (15.9-20.5) vs. 33.4 (31.6-35.2)%, P < 0.0001]. Central pressure profile was altered even in MFS patients without aortic dilatation. Multiple linear regression models showed that PWV independently predicted aortic diameters at the sinuses of Valsalva (ß = 0.243, P = 0.002) and at the sinotubular junction (ß = 0.186, P = 0.048). PWV was higher in 'dominant negative' than 'haploinsufficient' fibrillin-1 mutations [7.37 (7.04-7.70) vs. 6.60 (5.97-7.23) m/s, P = 0.035], although this difference was not significant after adjustment. CONCLUSION:Aortic stiffness is increased in MFS, independently from fibrillin-1 genotype and is associated with diameters of ascending aorta. Alterations in central hemodynamics are present even when aortic diameter is within normal limits. Our findings suggest an accelerated arterial aging in MFS.

journal_name

J Hypertens

journal_title

Journal of hypertension

authors

Salvi P,Grillo A,Marelli S,Gao L,Salvi L,Viecca M,Di Blasio AM,Carretta R,Pini A,Parati G

doi

10.1097/HJH.0000000000001512

subject

Has Abstract

pub_date

2018-01-01 00:00:00

pages

77-84

issue

eissn

0263-6352

issn

1473-5598

pii

00004872-201801000-00013

journal_volume

pub_type

杂志文章

在线工具

Aortic dilatation in Marfan syndrome: role of arterial stiffness and fibrillin-1 variants.