Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease
The University of Texas Health Science Center, Houston
Summary
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.
Description
The MAC will provide the infrastructure to assemble large cohorts of patients with mutations in known H-TAD genes, define the phenotype associated with these genes, and determine genetic and environmental modifiers and other biomarkers of H-TAD. Recruitment of large numbers of patients world-wide will improve the precision of data used to predict disease risks. Retrospective and prospective study designs will be used to fully characterize the different stages of H-TAD (i.e. susceptibility, presymptomatic, and symptomatic) and other complications associated with the H-TAD genes, and examine cli…
Eligibility
- Age range
- Not specified
- Sex
- All
- Healthy volunteers
- Yes
Inclusion Criteria: * 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. Exclusion Criteria: * Patients without a confirmed causative variant for H-TAD.
Locations (20)
- HOAG memorial hospital presbyterianNewport Beach, California
- Hoag Memorial Hospital PresbyterianNewport Beach, California
- Sutter HealthSacramento, California
- University of KentuckyLexington, Kentucky
- Massachusetts General HospitalBoston, Massachusetts
- University of MichiganAnn Arbor, Michigan