Kumar A, Stalker H J, Williams C A
Department of Pediatrics, College of Medicine, University of Florida, Gainesville.
Am J Med Genet. 1993 Mar 15;45(6):739-42. doi: 10.1002/ajmg.1320450614.
Isolated supravalvular aortic stenosis (SVAS) commonly is an autosomal dominant trait; it may also occur in the Williams syndrome (WS). While peripheral pulmonary stenosis (PPS) can occur in the same individual with familial isolated SVAS, concurrence of these lesions in different relatives of a family is uncommon. We describe five affected individuals in one family; three had isolated SVAS, one had isolated PPS, and one had SVAS and PPS. Based on this family and review of literature, we suggest that SVAS is a form of arterial dysplasia encompassing PPS in its spectrum. It is developmentally distinct from other left heart obstructive lesions that are hypothesized to be related to blood flow abnormalities in the developing embryo. We also conclude that the clinical disorder in this family represents one that is distinct from WS.
孤立性瓣上主动脉狭窄（SVAS）通常是一种常染色体显性性状；它也可能发生在威廉姆斯综合征（WS）中。虽然外周肺动脉狭窄（PPS）可发生于患有家族性孤立性SVAS的同一个体，但这些病变在一个家族的不同亲属中同时出现并不常见。我们描述了一个家族中的五名患者；三名患有孤立性SVAS，一名患有孤立性PPS，一名同时患有SVAS和PPS。基于这个家族并结合文献回顾，我们认为SVAS是一种动脉发育异常的形式，其谱系包括PPS。它在发育上与其他被认为与胚胎发育过程中血流异常相关的左心梗阻性病变不同。我们还得出结论，这个家族中的临床病症代表了一种与WS不同的病症。
