Aortic Aneurysm, Aortic Diseases, Aortic Dissection
Conditions
Brief 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.
Detailed 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 clinical and environmental factors that define risk of aortic dissections. The data from MAC will provide the critical clinical information for precise management of thoracic aortic disease and other complications caused by mutations of these genes and improve the medical management and outcome of patients with genetically triggered, lethal vascular diseases.
Interventions
None listed
Sponsors
The University of Texas Health Science Center, Houston
Study design
Observational model
COHORT
Time perspective
OTHER
Eligibility
Sex/Gender
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Number of participants with aortic dissection | 20 years | Aortic Dissection |
| Number of participants with aortic aneurysm requiring repair | 20 years | Aortic repair |
| Number of participants who died due to an aortic dissection/rupture or postoperative complications | 20 years | Mortality due to aortic disease |
| Number of participants with aortic dilation | 20 years | Aortic dilation |
| Rate of aortic growth | 20 years | Aortic diameter |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Number of participants with other cardiovascular complications | 20 years | Number of participants with other cardiovascular complications including ) other arterial dissection, 2) other arterial dilation or aneurysm requiring repair, 3) other arterial occlusion (i.e. ≥50% stenosis), 4) stroke, 5) myocardial infarction, 6) congenital heart defect (bicuspid aortic valve and type of fusion, patent ductus arteriosus, atrial septal defect, ventricular septal defect, aortic coarctation, other), 7) mitral valve prolapse, 8) mitral valve regurgitation, 9) mitral valve disease requiring repair, 10) cardiomyopathy and type, 11) left ventricular hypertrophy (interventricular septal thickness \>10 mm), 12) arrhythmia (requiring a pacemaker), 13) pulmonary artery dilation, 14) pulmonary hypertension. |
Countries
Australia, Belgium, Canada, Spain, United Kingdom, United States
Contacts
CONTACTDianna M Milewicz, MD, PhD
CONTACTErnesto Calderon Martinez, MD
STUDY_DIRECTORDianna Milewicz, MD, PhD
UTHealth
Outcome results
None listed