Deficient Circumferential Growth Is the Primary Determinant of Aortic Obstruction Attributable to Partial Elastin Deficiency.

ABSTRACT:

Objective

Williams syndrome is characterized by obstructive aortopathy attributable to heterozygous loss of ELN, the gene encoding elastin. Lesions are thought to result primarily from excessive smooth muscle cell (SMC) proliferation and consequent medial expansion, although an initially smaller caliber and increased stiffness of the aorta may contribute to luminal narrowing. The relative contributions of such abnormalities to the obstructive phenotype had not been defined.

Approach and results

We quantified determinants of luminal stenosis in thoracic aortas of Eln^-/- mice incompletely rescued by human ELN. Moderate obstruction was largely because of deficient circumferential growth, most prominently of ascending segments, despite increased a

SUBMITTER: Jiao Y 

PROVIDER: S-EPMC5501334 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature