Identification of Genetic Causes of Calcific Aortic Valve Disease

Study Overview
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Brief Summary
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This study aims to identify the molecular genetic causes of the variability in development of calcific aortic valve disease in bicuspid and tricuspid aortic valves and their associated aortic dilation.

Official Title
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Identification of Genetic Causes of Calcific Aortic Valve Disease

Conditions
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Calcific Aortic Stenosis, Calcific Aortic Stenosis - Bicuspid Valve, Aortic Valve Disease, Aortic Valve Calcification, Aortic Diseases, Aortic Aneurysm, Aortic Valve Cusp Abnormality, Aortic Valve Disease Mixed, Aortic Valve Insufficiency

Intervention / Treatment
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* Procedure: Patients scheduled to undergo aortic valve replacement or aortic surgery at BIDMC will be approached for participation in this study.


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Patients with a plan to undergo elective aortic valve replacement and/or ascending aortic surgery Exclusion Criteria: Age < 20 years Unable/unwilling to consent History of aortic valve replacement or transcatheter aortic valve replacement (TAVR) History of endocarditis History of rheumatic fever History of chest radiotherapy History of organ transplant

Ages Eligible for Study
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Minimum Age: 20 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Bicuspid aortic valve<br>We wish to investigate the etiology of calcific aortic valve disease, and aortic dilation or aneurysm in patients with a bicuspid aortic valve undergoing aortic valve replacement or aortic surgery. | Procedure: Patients scheduled to undergo aortic valve replacement or aortic surgery at BIDMC will be approached for participation in this study.<br>* Adult patients undergoing aortic valve replacement (AVR) and/or aortic resection will be enrolled.<br>|
| Tricuspid aortic valve<br>Data and samples will be compared using a control group comprised of patients with a tricuspid aortic valve undergoing aortic surgery. | Procedure: Patients scheduled to undergo aortic valve replacement or aortic surgery at BIDMC will be approached for participation in this study.<br>* Adult patients undergoing aortic valve replacement (AVR) and/or aortic resection will be enrolled.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Identification of expression signatures of aortic valve development and calcification in the macroscopically normal and abnormal portions of aortic valves excised during aortic valve replacement. | We will take a portion of the aortic valve and/or aortic tissue that is routinely excised for aortic valve or aortic replacement for expression analyses and generation of fibroblast cell lines. In collaboration with the Department of Pathology, we have established methods to take sufficient normal and abnormal tissue while allowing formal routine pathological evaluation. All tissue samples for expression analysis will be transported in iced RNALater and later frozen in a -80°C research freezer, prior to next generation sequencing. We may use tissue samples to develop cell lines for indefinite use. | 8 years |