In a 4-year-old girl supravalvular aortic stenosis was diagnosed by echocardiography. Her younger brother was operated on for the same heart disease one year before. Since chromosomal disorder and Williams-Beuren syndrome were excluded we made the diagnosis of familial supravalvular aortic stenosis in these sibs.
1 Heart catheterisation confirmed the diagnosis and, surprisingly, a total occlusion of the brachiocephalic trunk (BT) was demonstrated (figure 1). Cerebral and thoracic/abdominal MR angiography showed retrograde filling of the right-sided neck vessels with symmetrical jugular venous return (figure 2). No other systemic arteries were affected. …
