Familial history (aortic dissecting aneurysms over
generations), clinical features, chest radiographs revealing prominent
ascending aorta, confirmed by echocardiography, and on arteriogram demonstrating
dilatation of aortic root and sinuses of Valsalva. Left ventricular
hypertrophy and bicuspid aortic valve may be present, as well as dilatation
of the aorta more distally and dilatation of some of the major aortic
branches. Histologic examination reveals the cystic medial necrosis of the aorta
and deposits of mucopolysaccharide-like material (mucoid degeneration). Differential diagnosis
includes Marfan Syndrome or Ehlers-Danlos Syndrome (EDS) (patients with Gsell-Erdheim Syndrome are usually
not tall and do not have hyperextensible joints and
skin, or lens subluxation, or collagen and skin fibroblast anomalies).