Abstract

We report two families with phenotypically different forms of Romano-Ward syndrome. In one family, only five of 18 affected subjects are symptomatic, whereas in the other the proportion is three out of five. The families show distinct ECG morphologies, in addition to QT prolongation. Previous reports have shown genetic linkage either to the HLA locus on chromosome 6 or the Harvey-ras oncogene on chromosome 11. No linkage was found to either locus in the families reported here. The implications of phenotypic and genotypic heterogeneity in Romano-Ward syndrome are discussed in relation to the neurogenic and intrinsic models of pathogenesis.