Pathogenetic Basis of Aortopathy and Aortic Valve Disease
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.
• 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.)