Novel mutation in N-terminal fragment of ryanodine receptor 2 causing catecholaminergic polymorphic ventricular tachycardia |
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| Affiliation: | Department of Cardiovascular Medicine, The University of Kansas Medical Center, Kansas City, KS, USA |
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| 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. |
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| 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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