Development of aortic aneurysms in familial supravalvar aortic stenosis

In a male patient with supravalvar aortic stenosis (SAS) and peripheral pulmonary arterial stenoses, aortic aneurysms developed between his first and fourth years of life. He died five days after correction of SAS and resection of aneurysms. Histologic examination revealed disarrangement as well as severe degeneration of elastic fibers in the aortic wall. This tissue defect is probably inherited through an autosomal dominant mechanism. It may lead to aneurysm formation. Only one case of SAS with aortic aneurysm has been previously reported.