Genes and gene-function in bicuspid aortic valves
Completed
- Conditions
- bicuspid aortic valve1004697310007510
- Registration Number
- NL-OMON35653
- Lead Sponsor
- niversitair Medisch Centrum Utrecht
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Completed
- Sex
- Not specified
- Target Recruitment
- 434
Inclusion Criteria
Patients are included in this study with severe aortic stenosis and planned surgical aortic valve replacement when they*re at least 18 years old and not fitting any of the exclusion criteria. Written informed consent.
Exclusion Criteria
Patients with concomitant heart disease: previous myocardial infarction, endocarditis, patients with prior aortic valve replacement and aortic insufficiency. Patients younger than 18 years of age are also excluded from participation in this study. Patients who have a syndromic or genetic diagnosis, for example, Marfan*s disease, trisomy 21 and Turner*s syndrome.
Study & Design
- Study Type
- Observational invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>Identifying gene variations/mutations in patients with a bicuspid aortic valve<br /><br>and severe aortic stenosis, who will undergo aortic valve replacement therapy.<br /><br>Occurrence of gene variations/mutations in a cohort of patients with a stenotic<br /><br>aortic valve. </p><br>
- Secondary Outcome Measures
Name Time Method <p>Characterize the nature and effect of any mutations identified.</p><br>