Pathogenetic Basis of Aortopathy and Aortic Valve Disease

Launched by INDIANA UNIVERSITY · Feb 19, 2018

Keywords

ClinConnect Summary

This clinical trial, titled "Pathogenetic Basis of Aortopathy and Aortic Valve Disease," is focused on understanding the genetic causes of conditions affecting the aorta and aortic valve, such as thoracic aortic aneurysms (bulging of the aorta) and aortic valve diseases. The researchers aim to identify new genes that cause these conditions and how certain genetic factors may influence their severity. This study is currently looking for participants, including individuals with specific genetic diagnoses like Marfan Syndrome, Loeys-Dietz Syndrome, or Vascular Ehlers-Danlos Syndrome, as well as their family members.

If you or a family member have a genetic diagnosis related to these conditions, you might be eligible to participate in the study. Participants can expect to contribute to important research that could help improve understanding and treatment of aortic diseases. It's important to note that individuals with certain types of aortic disease or those undergoing specific surgeries may also be involved in the study, but those who cannot provide consent will not be eligible. Overall, this trial aims to uncover valuable information that could lead to better care for those affected by aortic conditions.

Gender

ALL

Eligibility criteria

• 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)