Supravalvular aortic stenosis as part of rubella syndrome, with discussion of pathogenesis.

Gregg (1941) first reported the association of maternal rubella in early pregnancy and congenital malformation. Subsequent authors described additional defects, including cardiac malformation, microcephaly, and deaf mutism (Swan et al., 1943). Persistence of the ductus arteriosus was thought to be the most common cardiac lesion (Campbell, 1961), but the more widespread use of cardiac catheterization and angiocardiography eventually led to an appreciation of the importance of stenoses of pulmonary arteries (Franch and Gay, 1963; Rowe, 1963; Venables, 1964, 1965; Rowe et al., 1966). In two recent reports (Rowe, 1966; Hastreiter et al., 1967) pulmonary artery stenosis was considered to be more frequent than persistence of the ductus arteriosus. Systemic artery involvement in the rubella syndrome has been described by a few authors. Campbell (1965) described diffuse arterial changes at necropsy in a 3-month-old infant, while Menser et al. (1966) described a child with renal artery stenosis and systemic hypertension secondary to maternal rubella. Reviewing the vascular lesions secondary to maternal rubella at necropsy, Esterly and Oppenheimer (1967) found 8 out of 13 had systemic artery lesions. In angiographic observations in children with cardiovascular lesions due to the rubella syndrome, Hastreiter et al. (1967) found evidence of hypoplasia of the aortic isthmus in 16 per cent of their cases. They were impressed by the absence of disease of the aortic valve and proximal aorta in their series. The present report describes 2 rubella-affected children with supravalvular aortic stenosis.