RecruitingAortic AneurysmAortic DissectionAortic Diseases

Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease

Eligible age

All ages

Accepts

All genders

Locations

10 states

Healthy volunteers

Yes

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About this study

The Montalcino Aortic Consortium (MAC) will provide the infrastructure to assemble large cohorts of patients with mutations in known heritable thoracic aortic disease (H-TAD) genes, define the phenotype associated with these genes, and determine genetic and environmental modifiers of H-TAD.

Sponsor: The University of Texas Health Science Center, Houston

You may qualify if…

✓ Patients and their relatives with a confirmed pathogenic, likely pathogenic variant, or variant of unknown clinical significance in at least one of the H-TAD genes (i.e. TGFBR1, TGFBR2, SMAD3, TGFB2, TGFB3, ACTA2, MYH11, MYLK, PRKG1, MAT2A, MFAP5, LOX, COL3A1, FOXE3, and FBN1).
✓ Patients of all ages, sex and race for which informed consent can be obtained.