Identification of Genetic Causes of Calcific Aortic Valve Disease

N/AActive Not RecruitingNCT04149600

Beth Israel Deaconess Medical Center1,000 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

1,000

Conditions

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

Eligibility

Sex: ALLMin age: 20 YearsHealthy volunteers:

Medical Language ↔ Plain English

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

Outcomes

Primary Outcomes

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.

Time frame: 8 years

Data from ClinicalTrials.gov

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