VASCERN News
19 May 2025
VASCERN HTAD WG launches gene compendia for Heritable Thoracic Aortic Diseases
Our Heritable Thoracic Aortic Diseases Working Group (HTAD WG) has published a new gene compendia offering a practical, accessible reference for key genes associated with heritable thoracic aortic diseases (HTAD).
Developed by the dedicated HTAD Gene Compendium Subgroup, this resource consolidates the latest knowledge about genes most frequently linked to HTAD. It provides clear, concise overviews of each gene’s role in disease, known clinical associations, and available guidance references.
Who is this for?
The compendia is tailored for a broad spectrum of professionals involved in HTAD care and research, including:
- Clinical geneticists engaged in diagnosis and variant interpretation
- Cardiologists and vascular surgeons managing patient care
- Genetic counsellors providing information and support to families
- Diagnostic laboratories conducting genetic testing
- Researchers advancing understanding of aortic disease genetics
What’s included so far?
The initial set includes overviews of:
- TGF-βR1 and TGF-βR2 – frequently involved in Loeys-Dietz syndrome
- TGF-β2 and TGF-β3 – associated with rarer HTAD forms
- FBN1 – the most well-known gene linked to Marfan syndrome
Each entry provides a brief overview of the gene’s role in disease, known clinical associations, and guidance references where available.
More to come
This is a living resource. Additional genes will be added over time as the subgroup expands the compendium to reflect new evidence and clinical needs. The goal is to build a reliable, practical knowledge base for anyone involved in the care or understanding of HTAD.
Explore the gene compendia on the VASCERN HTAD WG page.