title: Correlation of genetic etiology with response to beta-adrenergic blockade among symptomatic patients with familial long-QT syndrome.
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. 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 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.
authors: Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, University of Tokyo, Japan.
authors: T
authors: T
authors: Itoh
authors: K
authors: K
authors: Kikuchi
authors: Y
authors: Y
authors: Odagawa
authors: S
authors: S
authors: Takata
authors: K
authors: K
authors: Yano
authors: S
authors: S
authors: Okada
authors: N
authors: N
authors: Haneda
authors: S
authors: S
authors: Ogawa
authors: O
authors: O
authors: Nakano
authors: Y
authors: Y
authors: Kawahara
authors: H
authors: H
authors: Kasai
authors: T
authors: T
authors: Nakayama
authors: T
authors: T
authors: Fukutomi
authors: H
authors: H
authors: Sakurada
authors: A
authors: A
authors: Shimizu
authors: Y
authors: Y
authors: Yazaki
authors: R
authors: R
authors: Nagai
authors: Y
authors: Y
authors: Nakamura
authors: T
authors: T
authors: Tanaka
mesh_terms: D000293:Adolescent; D000319:Adrenergic beta-Antagonists / Q000627:therapeutic use*; D000328:Adult; D000368:Aged; D002648:Child; D005260:Female; D005838:Genotype; D006801:Humans; D008133:Long QT Syndrome / Q000188:drug therapy* / Q000235:genetics*; D008297:Male; D010641:Phenotype; D016896:Treatment Outcome
chemical_list: D000319:Adrenergic beta-Antagonists