Montalcino Aortic Consortium: Precision Medicine for Heritable Thoracic Aortic Disease (MAC)

The major diseases affecting thoracic aorta are aortic aneurysms and acute aortic dissections. The natural history of ascending thoracic aortic aneurysms is to asymptomatically enlarge over time until a tear in the intimal layer leads to an ascending aortic dissection. With dissection, blood penetrates into the aortic wall and separates the aortic layers, causing aortic rupture and other complications. The Montalcino Aortic Consortium (MAC) will provide the infrastructure to assemble large cohorts of patients with heritable thoracic aortic disease (H-TAD) with causal mutations in the known H-TAD genes and better define the natural and clinical history and phenotypic features associated with mutations of these genes as well as examine genetic and environmental modifiers and other biomarkers of H-TAD

For more information, visit: https://clinicaltrials.gov/study/NCT04005976

Inova Children's Cardiology Fairfax and Inova Adult Congenital Heart - Willow Oaks 
8260 Willow Oaks Corporate Drive 
Fairfax, VA 22031

•  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.
• Patients with H-TAD without a known mutation, i.e., individuals with thoracic aortic 
  disease and similarly affected relatives or patients with the onset of disease before the 
  age of 30 years.
• Affected and unaffected relatives of patients with H-TAD without a known mutation. 

• None