Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions.

ABSTRACT:

Introduction

Bicuspid aortic valve (BAV) affects 1% of the general population. NOTCH1 was the first gene associated with BAV. The proportion of familial and sporadic BAV disease attributed to NOTCH1 mutations has not been estimated.

Aim

The aim of our study was to provide an estimate of familial and sporadic BAV disease attributable to NOTCH1 mutations.

Methods

The population of our study consisted of participants of the University of Leicester Bicuspid aoRtic vAlVe gEnetic research-8 pedigrees with multiple affected family members and 381 sporadic patients. All subjects underwent NOTCH1 sequencing. A systematic literature search was performed in the NCBI PubMed database to identify publications reporting NOTCH1 sequencing in context

SUBMITTER: Debiec RM 

PROVIDER: S-EPMC9240330 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature