Novel mutation in N-terminal fragment of ryanodine receptor 2 causing catecholaminergic polymorphic ventricular tachycardia期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

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Novel mutation in N-terminal fragment of ryanodine receptor 2 causing catecholaminergic polymorphic ventricular tachycardia

Institution:	Department of Cardiovascular Medicine, The University of Kansas Medical Center, Kansas City, KS, USA

Abstract:	CPVT is a rare inherited arrhythmogenic disorder characterized by bidirectional, polymorphic ventricular arrhythmias triggered by catecholamines released during exercise, stress, or sudden emotion in individuals with a normal resting electrocardiogram and structurally normal heart. Mutations in the ryanodine receptor 2 gene are the most common known etiology of this disorder. The c.1195A > G(p.Met399Val) variant in Exon 14 of RyR2 is currently classified as a Variant of Uncertain Significance. We present a case of CPVT caused by this novel disease-causing RyR2 variant and discuss its pathophysiology. The role of SSRIs in treating patients with CPVT unresponsive to mainstream therapies is also highlighted.

Keywords:	Catecholaminergic polymorphic ventricular tachycardia Selective serotonin reuptake inhibitors Ryanodine receptor 2 CPVT"} {"#name":"keyword" "$":{"id":"pc_UuqdbnjDoc"} "$$":[{"#name":"text" "_":"catecholaminergic polymorphic ventricular tachycardia RyR2"} {"#name":"keyword" "$":{"id":"pc_0tOGh3X1oS"} "$$":[{"#name":"text" "_":"ryanodine receptor 2 SR"} {"#name":"keyword" "$":{"id":"pc_HHVQPQLeEl"} "$$":[{"#name":"text" "_":"sarcoplasmic reticulum VUS"} {"#name":"keyword" "$":{"id":"pc_Kaylr3jBM2"} "$$":[{"#name":"text" "_":"variant of uncertain significance CASQ2"} {"#name":"keyword" "$":{"id":"pc_LXBYZja6cz"} "$$":[{"#name":"text" "_":"calsequestrin 2 ARVC"} {"#name":"keyword" "$":{"id":"pc_H8Vz3iBvDl"} "$$":[{"#name":"text" "_":"arrhythmogenic right ventricular cardiomyopathy FKBP"} {"#name":"keyword" "$":{"id":"pc_LBuJUdFZRp"} "$$":[{"#name":"text" "_":"FK506-binding protein SSRI"} {"#name":"keyword" "$":{"id":"pc_ILoH4Acxol"} "$$":[{"#name":"text" "_":"selective serotonin receptor inhibitor TCA"} {"#name":"keyword" "$":{"id":"pc_V4FD5e6Xv5"} "$$":[{"#name":"text" "_":"tricyclic antidepressant SNRI"} {"#name":"keyword" "$":{"id":"pc_4zqn9tZHWe"} "$$":[{"#name":"text" "_":"serotonin norepinephrine reuptake inhibitor
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