Pathogenetic Basis of Aortopathy and Aortic Valve Disease

Recruiting
100 years or below
All
Phase N/A
1 Location

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.

Participants may be compensated for their participation.

Eligibility of study

You may be eligible for this study if you meet the following criteria:

  • Conditions: aortopathy
  • Age: 100 years or below
  • 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

Updated on 04 Aug 2024. Study ID: 1509977311

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