Whole Exome Sequencing in Bicuspid Aortic Valve Patients

Status Recruiting

Clinical Trial Summary

Bicuspid aortic valve (BAV), congenital anomaly present in 2% of the population, is defined by the presence of two sigmoid valves instead of three. It is conventionally associated with histological abnormalities of the wall of the ascending aorta, risk factors of aortic dystrophy observed in 50% of cases, and dissection. Long considered an accident of development, the discovery of mutations in the NOTCH1 gene in 2 families alternating BAV and aortic dystrophy suggests the existence of a genetic predisposition and a common genetic origin for these two pathologies.

Data on the genetic basis of the BAV are still limited, but the existence of a large phenotypic diversity suggests the involvement of other genes. The establishment of large collections of DNA will allow great advances in this field.

The purpose of this project is to confirm the existence of a genetic determinism at the origin of the BAV with or without dystrophy of non syndromic ascending aorta, identifying genetic defects associated with the presence of a BAV in a series of candidate genes.

Clinical Trial Description

n/a

Study Design

Allocation: Non-Randomized, Intervention Model: Parallel Assignment, Masking: Open Label, Primary Purpose: Prevention

Related Conditions & MeSH terms

Clinical Trial Details

NCT number	NCT02899624
Study type	Interventional
Source	Assistance Publique Hopitaux De Marseille
Contact	Jean François Avierinos
Email	jean-francois.avierinos@ap-hm.fr
Status	Recruiting
Phase	N/A
Start date	January 2014
Completion date	January 2018

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