Calcific Aortic Disease With Immunologic Abnormalities, Familial

Clinical Features

Tentolouris et al. (1993) described 2 sisters, aged 53 and 61 years, and the 31-year-old son of the youngest sister who had linear calcification of the ascending aorta and severe calcific mixed (stenotic and regurgitant) aortic valve disease associated with increased levels of globulins, lambda-chain gammopathy, an increased T4/T8 lymphocyte ratio, and other immunologic abnormalities. A 38-year-old daughter of the older sister had a history of severe aortic valve calcification with stenosis, for which she underwent open heart surgery. The surgeon described a peculiar severe nodular calcification that was 'scooped out' from the aortic ring; the aortic valve was thought to be normally formed. The findings were thought to resemble particularly those reported by Goldbaum et al. (1986) who described a young woman with nodular aggregates of amorphous calcific material on the aortic valve and referred to a possible familial basis. Similar idiopathic calcification of the ascending aorta and aortic valve was described in a young woman by McLoughlin et al. (1974) and by Rose and Forman (1976). The first case reported by McLoughlin et al. (1974) was studied also by Theman et al. (1979), who reported on the pathologic findings: extensive medial necrosis with secondary calcification of elastic tissue without evidence of previous inflammation or other destructive or reparative processes. Aortic calcification is an important feature of the Singleton-Merten syndrome (182250), which is characterized also by dental dysplasia and osteoporosis and other bone changes. Although syphilitic aortitis is characterized by 'bark-like' linear calcification of the ascending aorta caused by destruction of the media and resulting in dilatation and aortic valve regurgitation without stenosis, these patients had no clinical or serologic evidence of syphilis and had no risk factors or signs pointing to precocious atherosclerosis.