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Article

Diverse Phenotypic Manifestations in a Family with a Novel RYR2 E4107A Variant.

International heart journal - 1 Jan 2024

Hasegawa Hiroshi, Tamura Shuntaro, Nakajima Tadashi, Kawabata-Iwakawa Reika, Kobari Takashi, Matsumoto Naohiro, Sano Yukie, Nishiyama Masahiko, Kurabayashi Masahiko, Kaneko Yoshiaki, Nakatani Yosuke, Ishii Hideki

Abstract excerpt

Cardiac ryanodine receptor (RyR2) gain-of-function mutations cause catecholaminergic polymorphic ventricular tachycardia (CPVT). Conversely, RyR2 loss-of-function mutations cause a new disease entity, termed calcium release deficiency syndrome (CRDS), which may include RYR2-related long QT syndrome (LQTS). Importantly, unlike CPVT, patients with CRDS do not always exhibit exercise- or epinephrine-induced...

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Identifiers

PMID: 38825499
DOI: 10.1536/ihj.23-652

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