Increased Carotid Wall Stress in Vascular Ehlers-Danlos Syndrome

Abstract

Background-Vascular Ehlers-Danlos syndrome (vEDS), also known as EDS type IV, an inherited disorder of connective tissue, results from mutations in the gene encoding type III procollagen (COL3A1). Affected patients are at risk for arterial dissection or rupture, the main cause of death. To understand the pathogenesis of the vascular lesions, we used a biomechanical approach and determined steady and pulsatile wall stress. Methods and Results-Sixteen patients with vEDS and 16 age-, gender-, and blood pressure-matched control subjects were included in this cross-sectional noninvasive study. Circumferential wall stress was determined under steady and pulsatile conditions at the site of an elastic (common carotid) and a muscular (radial) artery from the measurements of intima-media thickness and internal diameter with high-resolution echo-tracking systems and either mean blood pressure or pulse pressure, respectively. At the site of the carotid artery, steady circumferential wall stress was 43% higher in vEDS patients than in control subjects (68.9Ϯ14.3 versus 48.2Ϯ12.1 kPa, PϽ0.001), and pulsatile circumferential wall stress was 22% higher (28.2Ϯ7.7 versus 23.1Ϯ5.7 kPa, PϽ0.001). Carotid intima-media thickness was 32% lower (408Ϯ56 versus 598Ϯ171 m, PϽ0.001) in vEDS patients, and internal diameter was not different between groups. Radial artery parameters were not significantly different between groups. Conclusions-In vEDS patients, an abnormally low intima-media thickness generates a higher wall stress than in control subjects at the site of an elastic artery, which may increase the risk of arterial dissection and rupture.

Structural and Genetic Bases of Arterial Stiffness

“…50 It is a rare connective tissue disorder inherited as an autosomaldominant trait, characterized mainly by the spontaneous rupture of arteries, and a gravid uterus or intestines. 50 In a recent cross-sectional study, 51 we compared the arterial phenotype of vascular-type Ehlers-Danlos syndrome patients with that of age-, sex-, and BP-matched control subjects. We observed no significant difference in carotid-femoral PWV and arterial distensibility (carotid and radial arteries).…”

Inheritance of arterial lesions in renal fibromuscular dysplasia

“…18 In monogenic connective tissue diseases (Marfan, Williams-Beuren and vascular Ehlers-Danlos syndromes), precise characterization of the arterial phenotype has highlighted the role of extracellular matrix signaling in vascular wall structure. [19][20][21] Our results, based on the use of an arterial score in renal FMD, provide strong evidence that FMD is a systemic inheritable disease. The use of this score as a surrogate trait for genetic linkage studies will require its validation in a larger number of families.…”

Disección carotídea en paciente con síndrome de Ehlers-Danlos tipo vascular

“…Farmacológicamente, se describe el uso de betabloqueadores como tratamiento preventivo de disección arterial, evitando la hipertensión arterial. El valor a largo plazo del tratamiento con celiprolol para prevenir las complicaciones vasculares es actualmente objeto de un ensayo clínico controlado, encontrándose este fármaco en proceso de validación (fase IV) 15 .…”