Whole Exome Sequencing in Bicuspid Aortic Valve Patients

Public Assistance-Hospitals of Marseille (AP-HM)

Status: Unknown

Conditions: Bicuspid Aortic Valve

Treatments: Biological: Extra blood draw samples; Biological: additional tissue samples

Study type: Interventional

Funder types: Other

Identifiers

NCT02899624

2013-09

Details and patient eligibility

About

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.

Enrollment: 427 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• bicuspid aortic valve, confirmed by transthoracic or transesophageal echocardiography
• With or without an aneurysm of the ascending thoracic aorta nonsyndromic

Exclusion criteria

• aortic syndromic pathology
• antecedent of acute articular rhumatism

Trial design

Primary purpose: Prevention

Allocation: Non-Randomized

Interventional model: Parallel Assignment

Masking: None (Open label)

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427 participants in 3 patient groups

Bicuspid aortic valve (BAV)

Experimental group

Description:

patient with bicuspid aortic valve

Treatment:

Biological: additional tissue samples

Biological: Extra blood draw samples

healthy subjects related patients with BAV

Active Comparator group

Description:

healthy control, related to patient with bicuspid aortic valve, at the 1st, 2nd or 3rd degree

Treatment:

Biological: Extra blood draw samples

Tricuspid aortic valve (TAV)

Active Comparator group

Description:

patient with aortic stenosis on tricuspid valve

Treatment:

Biological: additional tissue samples