Pathogenetic Basis of Aortopathy and Aortic Valve Disease

Study of Genetic Factors in Heart and Blood Vessel Diseases

L
Larry Markham

Primary Investigator

B
Benjamin Landis, MD

Primary Investigator

Enrolling By Invitation
100 years or below
All
Phase N/A
3 Locations

Brief description of study

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.
 
THIS STUDY IS ENROLLING BY INVITATION ONLY - Families affected by aortopathy, aortic valve disease, or syndromic or genetic diagnosis that poses risk for the development of aortic disease who have not yet developed disease will be identified and contacted by study team about participation.

Detailed description of study

Blood and urine samples will be obtained from subjects participating in the study. In rare cases in which a blood sample cannot be obtained, cheek swabs (cytobrush) or saliva samples may be obtained. Leftover tissue from subjects having a heart surgery or other procedure that involves removal of tissue will also be collected. Leftover tissue will only be collected for the study if it is not needed by the pathologist (e.g. excess tissue that will not be taken to the pathology lab and/or tissue that is leftover after pathology examines the tissue and runs the test required for medical care). No new tissue will be collected as part of this research.
 
The goals of this study are:
1) to ascertain a cohort of subjects who have aortopathy and/or aortic valve disease including TAA or who have genetic risk for the development of aortopathy and/or aortic valve disease, 
2) to collect paired blood and tissue samples from well-characterized subjects, family members of subjects, and controls to perform genome-wide DNA sequence, histopathologic, transcriptional and proteomic analyses
3) to establish a tissue biorepository with detailed phenotype information to facilitate a broad spectrum of current and future studies.

Eligibility of study

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

  • Conditions: Aortopathy, Aortic valve disease, Marfan Syndrome (MDS), Loeys-Dietz Syndrome (LDS), Vascular Ehlers-Danlos Syndrome (EDS), Riley
  • Age: 100 years or below
  • Gender: All

Inclusion 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.)

Exclusion Criteria:

• Inability or unwillingness to provide consent (assent when indicated
 

This study investigates the genetic causes of thoracic aortic aneurysm (TAA) and other aortic diseases. The purpose is to find new genes that may cause these conditions and understand how genetics can affect the severity of aortic and valve diseases.

Participants will provide blood and urine samples. If blood samples cannot be obtained, cheek swabs or saliva samples may be used. Tissue leftover from surgeries may also be collected if not needed for medical care. No new tissue will be taken specifically for this study.

  • Who can participate: Only families invited by the study team with a history of aortopathy, aortic valve disease, or genetic conditions like Marfan Syndrome, Loeys-Dietz Syndrome, or Vascular Ehlers-Danlos Syndrome may be eligible.
  • Study details: Participants will provide samples such as blood, urine, or cheek swabs. Leftover surgical tissue may also be collected if not needed for medical care.
Updated on 24 Sep 2025. Study ID: PEDS-IIR-LANDIS-TAA, 1509977311
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Interested in the study?

This study is accepting only persons who receive care at a certain clinic or doctor or who are part of an invited group. Questions about this study can be directed to the study team listed in the description or contact your doctor to see if you are eligible.

Accepting Referrals by Invitation Only