Abstract
Mutations in any of the five genes KCNQ1, KCNH2, KCNE1, KCNE2, and SCN5A can be responsible for familial long QT syndrome (LQTS), an arrhythmogenic disorder that entails a high risk of sudden death. β-Adrenergic blocking agents are the first therapeutic choice, and 80% of patients treated with these agents show symptomatic relief; however the remaining 20% do not respond well. We previously performed a nationwide analysis of familial long QT syndrome (LQTS) in Japan and identified 32 mutations in the KCNQ1 and KCNH2 genes. In the present retrospective study, we found that patients carrying mutations in the KCNQ1 gene responded better to β-adrenergic blocking agents than those with KCNH2 mutations (12 of 13 vs 1 of 5; P = 0.0077, Fisher's exact test). This is a good example of the power of genetic diagnosis to direct the selection of appropriate therapy for patients with diseases of heterogeneous genetic etiology.
Similar content being viewed by others
Article PDF
Author information
Authors and Affiliations
Additional information
Received: September 29, 2000 / Accepted: October 12, 2000
Rights and permissions
About this article
Cite this article
Itoh, T., Kikuchi, K., Odagawa, Y. et al. Correlation of genetic etiology with response to β-adrenergic blockade among symptomatic patients with familial long-QT syndrome. J Hum Genet 46, 38–40 (2001). https://doi.org/10.1007/s100380170123
Published:
Issue Date:
DOI: https://doi.org/10.1007/s100380170123
This article is cited by
-
?-Blocker Therapy Failures in Symptomatic Probands with Genotyped Long-QT Syndrome
Pediatric Cardiology (2004)