familial aortic aneurysm

Introduction

Familial syndromes associated with aortic aneurysm.

Genetics

• three such syndromes associated with defects in TGFBR1
  • Loeys-Dietz syndrome type 1A
  • Loeys-Dietz syndrome type 1B
  • Loeys-Dietz syndrome type 2A
  • Loeys-Dietz syndrome type 2B
  • aortic aneurysm familial thoracic type 3
  • aortic aneurysm familial thoracic type 5

More general terms

• aortic aneurysm
• genetic disease of blood vessels

More specific terms

• aortic aneurysm familial thoracic type 3
• aortic aneurysm familial thoracic type 4; familial thoracic aortic aneurysm & dissection
• aortic aneurysm familial thoracic type 5
• aortic aneurysm familial thoracic type 6
• Loeys-Dietz syndrome type 1A; Furlong syndrome; Loeys-Dietz aortic aneurysm syndrome (LDS1A, LDS1)
• Loeys-Dietz syndrome type 1B (LDS1B)
• Loeys-Dietz syndrome type 2A (LDS2A)
• Loeys-Dietz syndrome type 2B (LDS2B); Marfan syndrome type 2