We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Correlation of genetic etiology with response to β-adrenergic blockade among symptomatic patients with familial long-QT syndrome.
- Authors
Itoh, T.; Kikuchi, K.; Odagawa, Y.; Takata, S.; Yano, K.; Okada, S.; Haneda, N.; Ogawa, S.; Nakano, O.; Kawahara, Y.; Kasai, H.; Nakayama, T.; Fukutomi, T.; Sakurada, H.; Shimizu, A.; Yazaki, Y.; Nagai, R.; Nakamura, Y.; Tanaka, T.
- Abstract
Abstract Mutations in any of the five genes KCNQ1, KCNII2, KCNE1, KCNE2, and SCN5A can be responsible for familial long qt syndrome (LQTS), an arrhythmogenic disorder that entails a high risk of sudden death. Beta-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 Beta-adrenergic blocking agents than those with KCNII2 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.
- Subjects
JAPAN; GENETIC mutation; GENETIC disorder diagnosis
- Publication
Journal of Human Genetics, 2001, Vol 46, Issue 1, p38
- ISSN
1434-5161
- Publication type
Article
- DOI
10.1007/s100380170123