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11.07.2016 | Case Report

Prominent QTc prolongation in a patient with a rare variant in the cardiac ryanodine receptor gene

verfasst von: Yuki Taniguchi, Aya Miyazaki, Heima Sakaguchi, Yousuke Hayama, Norihiro Ebishima, Jun Negishi, Kanae Noritake, Yoshihiro Miyamoto, Wataru Shimizu, Takeshi Aiba, Hideo Ohuchi

Erschienen in: Heart and Vessels | Ausgabe 2/2017

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Abstract

We report the case of a 12-year-old female patient with a history of four syncopal episodes related to exercise over 2 years and who showed prominent QTc prolongation on electrocardiogram; therefore, she was clinically diagnosed with long QT syndrome type-1. However, genetic analysis did not identify any LQT-related genes but showed a rare missense variant in the cardiac ryanodine receptor gene. From the results of drug-loading tests, administration of oral propranolol was initiated; thereafter, she experienced no syncopal episodes. This is a case report demonstrating the “overlapping clinical features” of long QT syndrome and catecholaminergic polymorphic ventricular tachycardia.

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Titel: Prominent QTc prolongation in a patient with a rare variant in the cardiac ryanodine receptor gene
verfasst von: Yuki Taniguchi
Aya Miyazaki
Heima Sakaguchi
Yousuke Hayama
Norihiro Ebishima
Jun Negishi
Kanae Noritake
Yoshihiro Miyamoto
Wataru Shimizu
Takeshi Aiba
Hideo Ohuchi
Publikationsdatum: 11.07.2016
Verlag: Springer Japan
Erschienen in: Heart and Vessels / Ausgabe 2/2017
Print ISSN: 0910-8327
Elektronische ISSN: 1615-2573
DOI: https://doi.org/10.1007/s00380-016-0869-z

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Prominent QTc prolongation in a patient with a rare variant in the cardiac ryanodine receptor gene

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