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Article

Clinical Impact of Genetic Testing for Long QT Syndrome　- Evidence From a Nationwide LQTS Registry in Japan.

Circulation journal : official journal of the Japanese Circulation Society - 23 May 2025

Aiba Takeshi, Ohno Seiko, Takegami Misa, Kato Yoshiaki, Sakaguchi Heima, Shimamoto Keiko, Sonoda Keiko, Ida Kazufumi, Sumitomo Naokata, Nabeshima Taisuke, Murakami Takashi, Ninomiya Yumiko, Kato Koichi, Fukuyama Megumi, Makiyama Takeru, Hayashi Kenshi, Ohta Kunio, Morita Hiroshi, Nakajima Tadashi, Kaneko Yoshiaki, Yagihara Nobue, Otsuki Sou, Kosho Tomoki, Yoshida Yoko, Takamuro Motoki, Ueno Michihiko, Takahashi Tatsunori, Inden Yasuya, Hayabuchi Yasunobu, Muraji Shota, Watanabe Shigeo, Nishimura Kunihiro, Asano Yoshihiro, Horigome Hitoshi, Yoshinaga Masao, Horie Minoru, Shimizu Wataru, Kusano Kengo

Abstract excerpt

BACKGROUND: Genetic testing for long QT syndrome (LQTS) is useful for diagnosis, risk stratification, and therapeutic strategies. This study investigated the clinical impact of genetic testing for LQTS patients. METHODS AND RESULTS: Total 3,851 patients (proband: 2,316 [60%]; female: 2,283 [59%]; median age: 14 years [interquartile range 9-36 years]) diagnosed with LQTS (LQTS score ≥3.5, QTc ≥500 ms, pathogenic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 40159220
DOI: 10.1253/circj.CJ-25-0105

Genes

CALM1
CACNA1C
KCNJ2
KCNH2
KCNQ1
SCN5A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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