Loeys-Dietz Syndrome
Loeys-Dietz syndrome is a rare genetic connective tissue disorder caused by TGF-beta pathway gene mutations. It carries a high risk of aortic aneurysm and dissection at relatively young ages.
Table of Contents
Features
- Aortic aneurysm and dissection (key concern)
- Hypertelorism (wide-set eyes)
- Cleft palate or bifid uvula
- Tortuous arteries throughout body
- Skeletal features overlapping Marfan
Management
- Regular vascular imaging
- Beta-blockers and ARBs to slow aortic growth
- Surgical repair at smaller aortic diameters than Marfan
- Genetic counseling for family
Medical Disclaimer: This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always consult a qualified healthcare provider with questions about a medical condition. If you are experiencing a medical emergency, call your local emergency number immediately.
References
- The Loeys-Dietz Syndrome Foundation. Patient Resources.