Pathogenetic Basis of Aortopathy and Aortic Valve Disease
Study on Genetic Factors in Aortic Disease
Brief description of study.
The purpose of this study is to identify genes related to aortopathy and aortic valve disease in order to determine the risk and severity of aortic disease in individuals starting at an early age or stage of disease.
Detailed description of study
The purpose of this study is to obtain information from individuals and their families in order to define the complex genetic and pathogenic basis of thoracic aortic aneurysm and other forms of aortopathy and aortic valve disease by identifying new disease-causing genes and by identifying important genetic modifiers for aortic/aortic valve disease severity.
Eligibility of study
You may be eligible for this study if you meet the following criteria:
- Conditions: aortopathy
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Age: 100 years or below
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Gender: All
Inclusion Criteria
Subjects with aortic disease including TAA* or dissection, aortic tortuosity, or aortic hypoplasia/stenosis (based on any cardiac imaging modality including echocardiography, CT, MRI, or angiography)
Subjects with a syndromic or genetic diagnosis that poses risk for the development of aortic disease who have not yet developed disease
Subjects with aortic valve disease
Family members of eligible subjects
Control subjects having tissue removed during a surgical procedure
Tissue donors who have authorized the use of their specimens for research
Leftover specimens being stored within an Indiana University and/or Indiana University Health lab or storage facility from patients who fall into previously described inclusion criteria
Exclusion Criteria
Inability or unwillingness to provide consent
This study investigates the genetic factors related to aortopathy and aortic valve disease. Aortopathy refers to conditions affecting the aorta, the main artery of the body, while aortic valve disease affects the valve that controls blood flow from the heart to the aorta. The study aims to identify genes that may influence the risk and severity of these conditions, even from an early age or stage of the disease.
Participants will provide information and possibly tissue samples, which will help researchers understand the genetic and disease-causing factors of thoracic aortic aneurysm and other related conditions. This includes identifying genes that might change how severe the disease becomes.
- Who can participate: Individuals with aortic disease or genetic conditions posing risk for these diseases, and family members of eligible subjects, can participate. Control subjects undergoing surgery are also included.
- Study details: Participants may provide tissue samples or other information for research. Some participants may be compensated for their involvement.
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