The modern techniques of the cardiology laboratory have resulted in marked improvement in diagnostic ability with concomitant refinement in diagnostic criteria.1-3 In aortic stenosis, these advances now permit precise differentiation into valvular, subvalvular, and supravalvular lesions.4,5
Congenital supravalvular aortic stenosis, apparently first described by Archer in 1878,6 has recently been reviewed and given a comprehensive classification by Perou.7 The material and discussion presented below is limited to the true stenosis, or coarctation, of the supravalvular aorta under this classification, and is concerned with the familial incidence of this malformation.
Report of Cases
Case 1.—Patient 1 (P1) is a 9-year-old white boy of Scandinavian ancestry in whom an aortic systolic murmur was discovered at 2 months of age, and who was asymptomatic until age 8. Since then, he has had mild exertional dyspnea and, occasionally, mild precordial pain. The family history is of considerable interest and will
EISENBERG R, YOUNG D, JACOBSON B, BOITO A. Familial Supravalvular Aortic Stenosis. Am J Dis Child. 1964;108(4):341-347. doi:10.1001/archpedi.1964.02090010343002