Pathogenetic Basis of Aortopathy and Aortic Valve Disease

Description

The main purpose of this study is to define the complex genetic and pathogenic basis of thoracic aortic aneurysm (TAA) and other forms of aortopathy and/or aortic valve disease by identifying novel disease-causing genes and by identifying important genetic modifiers for aortic and aortic valve disease severity.

Conditions

Aortopathies, Thoracic Aortic Aneurysm, Aortic Valve Disease, Thoracic Aortic Disease, Thoracic Aortic Dissection, Thoracic Aortic Rupture, Ascending Aortic Disease, Descending Aortic Disease, Ascending Aortic Aneurysm, Descending Aortic Aneurysm, Marfan Syndrome, Loeys-Dietz Syndrome, Vascular Ehlers-Danlos Syndrome, Shprintzen-Goldberg Syndrome, Turner Syndrome, PHACE Syndrome, Autosomal Recessive Cutis Laxa, Congenital Contractural Arachnodactyly, Arterial Tortuosity Syndrome, Bicuspid Aortic Valve-Associated Aortopathy, Bicuspid Aortic Valve, Familial Thoracic Aortic Aneurysm and Aortic Dissection

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Study Overview

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Study Details

Study overview

The main purpose of this study is to define the complex genetic and pathogenic basis of thoracic aortic aneurysm (TAA) and other forms of aortopathy and/or aortic valve disease by identifying novel disease-causing genes and by identifying important genetic modifiers for aortic and aortic valve disease severity.

Pathogenetic Basis of Aortopathy and Aortic Valve Disease

Pathogenetic Basis of Aortopathy and Aortic Valve Disease

Condition
Aortopathies
Intervention / Treatment

-

Contacts and Locations

Atlanta

Childrens Healthcare of Atlanta, Atlanta, Georgia, United States, 30329

Indianapolis

IU School of Medicine, Indianapolis, Indiana, United States, 46202

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • * Open to external enrollment:
  • * Subjects with a genetic diagnosis of Marfan Syndrome (MDS), Loeys-Dietz Syndrome (LDS), or Vascular Ehlers-Danlos Syndrome (EDS); (Positive genetic testing or a previous cardiac study required to be eligible)
  • * Family members of eligible subjects (Only family members of subjects with syndromic diagnoses are eligible for external enrollment at this time)
  • * Closed to external enrollment:
  • * 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 aortic valve disease (bicuspid, unicuspid, or tricuspid disease)
  • * Control subjects having tissue removed during a surgical procedure (e.g. coronary artery bypass graft surgery (CABG), cardiac transplant, etc.)

Ages Eligible for Study

to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Indiana University,

Benjamin Landis, MD, PRINCIPAL_INVESTIGATOR, IU School of Medicine

Study Record Dates

2030-12-31