Genotype-phenotype correlation in patients with bicuspid aortic valve and aneurysm.

ABSTRACT:

Objectives

Bicuspid aortic valve is the most common congenital cardiac abnormality, occurring in 1% to 2% of the population, and often associates with ascending aortic aneurysm. Based on familial studies, bicuspid aortic valve with aneurysm segregates in an autosomal dominant manner with incomplete penetrance. NOTCH1 mutations have been reported in 6 families with prominent valve calcification and dysfunction and low penetrance of aneurysm. We sought to determine the contribution of NOTCH1 mutations to the more common phenotype of highly penetrant aneurysms with low penetrance of bicuspid aortic valve and with rare valve calcification or dysfunction.

Methods

All exons and splice junctions of NOTCH1 were sequenced in probands from 13 affected families presenting with bicuspid

SUBMITTER: Kent KC 

PROVIDER: S-EPMC3697122 | biostudies-literature | 2013 Jul

REPOSITORIES: biostudies-literature