Evidence of genetic and phenotypic heterogeneity in the Romano-Ward syndrome.
Open Access
- 1 November 1993
- journal article
- Published by BMJ in Journal of Medical Genetics
- Vol. 30 (11), 947-950
- https://doi.org/10.1136/jmg.30.11.947
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.Keywords
This publication has 16 references indexed in Scilit:
- Study of left and right ventricular function in Romano-Ward syndrome.Heart, 1993
- Evidence of Genetic Heterogeneity in the Long QT SyndromeScience, 1993
- Consanguinity, cardiac arrest, hearing impairment, and ECG abnormalities: counselling pitfalls in the Romano-Ward syndrome.Journal of Medical Genetics, 1993
- Late potentials in a bradycardia-dependent long QT syndrome associated with sudden death during sleepJournal of the American College of Cardiology, 1992
- Idiopathic long QT syndrome: Progress and questionsAmerican Heart Journal, 1985
- The long QT syndrome: a prospective international study.Circulation, 1985
- Cardiac arrhythmias misdiagnosed as epilepsy.Archives of Disease in Childhood, 1985
- A Study of the Inheritance Pattern of Romano-Ward SyndromeClinical Pediatrics, 1982
- A simple scheme for the analysis of HLA linkages in pedigreesAnnals of Human Genetics, 1978
- Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval, and sudden deathAmerican Heart Journal, 1957