NCT02899624

Whole Exome Sequencing in Bicuspid Aortic Valve Patients

• Status: Unknown
• Phase: N/A
• Study type: Interventional
• Enrollment: 427 (estimated)
• Sponsor: Assistance Publique Hopitaux De Marseille · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Accepted

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.

Conditions

• Bicuspid Aortic Valve

Interventions

Type	Name	Description
BIOLOGICAL	Extra blood draw samples
BIOLOGICAL	additional tissue samples

Timeline

• Start date: 2014-01-01
• Primary completion: 2017-01-01
• Completion: 2018-01-01
• First posted: 2016-09-14
• Last updated: 2016-09-14

Locations

1 site across 1 country: France