Loeys–Dietz Syndrome Type VI
The newest and least understood LDS subtype
Overview
Type VI was only recently discovered and is still under research. It’s caused by SMAD2 mutations and may present with unique vascular or connective tissue issues.
Known Features
- Early vascular changes
- Research is ongoing
- Possibly fewer external signs
Genetics
SMAD2 mutation affects the same TGF-beta pathway as other types but in unique ways.
Management
Monitoring and participation in ongoing studies are encouraged to better understand the type.