Timeline of Loeys-Dietz Syndrome
Initial Discovery
Drs. Bart Loeys and Hal Dietz first identified Loeys-Dietz syndrome (LDS) as a distinct connective tissue disorder involving mutations in TGFBR1 and TGFBR2.
Types 1 & 2 Classified
Type 1 included craniofacial abnormalities and arterial aneurysms. Type 2 lacked craniofacial symptoms but shared vascular characteristics.
Type 3 (SMAD3) Identified
Associated with early-onset osteoarthritis and aneurysms. Confirmed autosomal dominant inheritance pattern.
Type 4 (TGFB2) Recognized
Found in patients with aortic aneurysms and skeletal features. Helped expand understanding of LDS genetics.
Type 5 (TGFB3) Added
Another member of the TGF-beta signaling family. Reinforced the shared pathogenic mechanisms across LDS types.
Type 6 (SMAD2) Discovered
Recognized through advanced genome sequencing in atypical LDS cases with overlapping features.
Ongoing Research
Focus on targeted therapies for TGF-beta signaling, patient registries, and personalized treatment based on genetic data.