[Juvenile sudden death from spontaneous aortic rupture].

In the time interval 1979-1991, 150 cases of juvenile sudden death (< or = 35 years) were studied. Among these, 9 were due to aortic rupture within the pericardial cavity. Two were mycotic and 7 dissecting aneurysms. The latter, all male, age ranging from 17 to 31 years (mean 24), presented the following risk factors: Marfan syndrome in 2, isthmal coarctation associated with bicuspid aortic valve (BAV) in 3, isolated and normally functioning BAV in 2. Histology of the dissected aortic wall showed an equal severity of degenerative changes consisting of elastic fragmentation, cystic medial necrosis and medionecrosis. By reviewing our anatomical collection of dissecting aneurysm we found a 12% frequency of BAV. Taking into consideration that the frequency in normal population of BAV is near 1%, the association between bicuspid aortic valve and dissecting aneurysm should not be casual (p < 0.001). In conclusion: a) natural history of BAV entails the risk of spontaneous aortic laceration and sudden death in the youth, either in the isolated form or in association with isthmal coarctation; b) the aortic tunica media in these conditions shows an intrinsic structural weakness very similar to that observed in Marfan syndrome, as to suggest a congenital, most probably genetic defect with phenotype expression not only at valve level, but also within the aortic wall; c) aortic dissection occurs nearly ten times more frequently in patients with BAV than in normal population.