List of Genes
- Research & Registry
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- List of Genes
Many genes have been identified as contributing to Hereditary Thoracic Aortic Disease (HTAD), reflecting the genetic complexity of these conditions.
MAC’s goal is to elucidate the natural history of disease associated with each gene and to determine whether specific genetic variants influence disease severity or clinical presentation. This list will continue to be updated as new genes are discovered.
The MAC Registry collects data from individuals with pathogenic, likely pathogenic, and highly suspicious variants of uncertain clinical significance in the following genes:
Resources & References:
Clinical Genome (ClinGen) Familial Thoracic Aortic Aneurysm and Aortic Dissection genes
Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection. J Am Coll Cardiol. 2018 Aug 7;72(6):605-615. PMID: 30071989.
Update on the genetic risk for thoracic aortic aneurysms and acute aortic dissections: implications for clinical care. J Cardiovasc Surg (Torino). 2021 Mar 18;62(3):203–210. PMID: 33736427