aortic aneurysm familial thoracic type 4; familial thoracic aortic aneurysm & dissection

Pathology

• degenerative changes in the aortic wall
• characteristic histologic appearance of 'medial necrosis'
  • degeneration & fragmentation of elastic fibers
  • loss of smooth muscle cells
  • accumulation of basophilic ground substance
• marked aortic stiffness
• show large areas of medial degeneration with very low smooth muscle cells content

Genetics

• associated with defects in MYH11

More general terms

• familial aortic aneurysm

Database

• OMIM: https://mirror.omim.org/entry/132900