Forty-one patients in whom the diagnosis of a non-stenotic bicuspid aortic valve had been established by noninvasive techniques were followed up for a mean of 10.9 years. During this period, 2 patients required aortic valve replacement because of the development of calcific aortic valve stenosis at the ages of 52 and 64 and 5 others developed evidence of mild aortic valve stenosis. The appearance of calcium in a bicuspid aortic valve suggests the possibility of subsequent calcific aortic stenosis, and patients with this feature should be carefully followed up. Bacterial endocarditis on the aortic valve occurred in 3 patients, one of whom developed severe aortic regurgitation and subsequently died. Patients with a bicuspid aortic valve are at definite risk from bacterial endocarditis and should receive appropriate antibiotic prophylaxis. In 26/41 (63%) patients there was no clinical change during the follow-up period, including 7 of the patients over the age of 50.
SUMMARY DNA markers were used to assess the segregation of genes encoding the collagen types that predominate in the mitral valve (types I, III, and V) in two family pedigrees that are phenotypically different but showed dominantly inherited mitral valve prolapse. The inheritance of these markers was compared with the segregation of the phenotype for mitral valve prolapse in both families. In one family it was shown that the COLIA1, COLIA2, COL3AI, and COLSA2 genes segregated independently of the phenotype; in the other family the results for COLlAl, COLIA2, and COL5A2 were similar but analysis at the COL3AI locus was not possible.These data indicate that in these families mitral valve prolapse does not arise from a defect in one of these collagen genes.
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