Arrhythmia characterization and long-term outcomes in catecholaminergic polymorphic ventricular tachycardia

Sy, Raymond W.; Gollob, Michael H.; Klein, George J.; Yee, Raymond; Skanes, Allan C.; Gula, Lorne J.; Leong‐Sit, Peter; Gow, Robert M.; Green, Martin S.; Birnie, David H.; Krahn, Andrew D.

doi:10.1016/j.hrthm.2011.01.048

Cited by 170 publications

(112 citation statements)

References 27 publications

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“…Therefore, genetic analysis not should be the main result in clinical diagnosis and adoption of years old) [13]. In addition, the authors also suggested that patients with late-onset CPVT are more likely to be female, and at lower risk of SCD.…”

Section: Discussionmentioning

confidence: 99%

A novel variant in RyR2 causes familiar catecholaminergic polymorphic ventricular tachycardia

Bosch

Campuzano

Sarquella-Brugada

et al. 2017

Forensic Science International

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Catecholaminergic polymorphic ventricular tachycardia is a rare familial arrhythmogenic disease. It usually occurs in juvenile patients with a structurally normal heart and causes exercise–emotion triggered syncope and sudden cardiac death. The main gene associated with catecholaminergic polymorphic ventricular tachycardia is RyR2, encoding the cardiac ryanodine receptor protein which is involved in calcium homeostasis. After the identification of a 16 year-old man presenting with exercise-induced sudden cardiac death, clinically diagnosed as catecholaminergic polymorphic ventricular tachycardia, we collected the family information and performed a comprehensive genetic analysis using Next Generation Sequencing technology. The initial electrocardiogram in the emergency department revealed ventricular fibrillation. On electrocardiogram monitoring, sinus tachycardia degenerated into bidirectional ventricular and into ventricular fibrillation. Catecholaminergic polymorphic ventricular tachycardia was clinically diagnosed in 5 of the 14 family members evaluated. There were no additional reports of seizures, pregnancy loss, neonatal death, or sudden cardiac death in family members. Genetic analysis of the index case identified only one rare novel variant p.Ile11Ser (c.32T > G) in the RyR2 gene. Subsequent familial analysis identified segregation of the genetic variant with the disease. All current evidence supports that novel p.Ile11Ser variant in the RyR2 gene is a potential disease-causing variant in catecholaminergic polymorphic ventricular tachycardia. To our knowledge, there has been no previous case report of catecholaminergic polymorphic ventricular tachycardia associated to this missense varian

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Section: Discussionmentioning

confidence: 99%

A novel variant in RyR2 causes familiar catecholaminergic polymorphic ventricular tachycardia

Bosch

Campuzano

Sarquella-Brugada

et al. 2017

Forensic Science International

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show abstract

“…23,24 Priori et al observed RyR2 mutation-carrying index patients were more often male and became symptomatic at younger age. 23 Sy et al observed a higher proportion of symptomatic patients among RyR2 mutationcarrying index patients, but the number of patients was low.…”

Section: Genotype-phenotype Correlationmentioning

confidence: 99%

“…23 Sy et al observed a higher proportion of symptomatic patients among RyR2 mutationcarrying index patients, but the number of patients was low. 24 CPVT patients carrying mutations in CASQ2 are thought to have a worse phenotype, with expression at younger age, compared to CPVT patients with RyR2 or no mutations. 11,25 While different RyR2 mutated transgenic and knock-in mouse models show similar phenotypes, 26,27 genotype-phenotype correlations based on RyR2 mutation location have not been studied in humans.…”

Section: Genotype-phenotype Correlationmentioning

confidence: 99%

“…28,29 In recent years it has been observed that probands presenting at older age are not uncommon. Recently, a distinction between juvenileonset CPVT and late-onset CPVT has been proposed by Sy et al 24 This group classified these two groups using a cut-off age of 21 years. The yield of genetic testing was significantly higher in the juvenile-onset group, whereas probands in the late-onset group were more likely to be female and were less likely to have affected family members.…”

Section: Clinical Presentationmentioning

confidence: 99%

“…Polymorphic VT occurs in approximately 60% of patients, while the proportion of patients with bidirectional VT is much lower. 24,31 In more than half of the cases the initiating VPB originates from the right ventricular outflow tract. 24,31 …”

Section: Electrocardiographic Characteristicsmentioning

confidence: 99%

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Catecholaminergic Polymorphic Ventricular Tachycardia in 2012

2011

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Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare, potentially lethal inherited arrhythmia syndrome characterized by stress or emotion-induced ventricular arrhythmias. CPVT was first described in 1960, while the genetic basis underlying this syndrome was discovered in 2001. The past decade has seen substantial advances in understanding the pathophysiology of CPVT. In addition, significant advances have been made in elucidating clinical characteristics of CPVT patients and new treatment options have become available. Here, we review current literature on CPVT to present state-of-the-art knowledge on the subject of the genetic basis, pathophysiology, clinical presentation, diagnosis, treatment and prognosis.

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Role of Mapping and Ablation in Genetic Diseases: Long QT Syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia

2012

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Arrhythmia characterization and long-term outcomes in catecholaminergic polymorphic ventricular tachycardia

Cited by 170 publications

References 27 publications

A novel variant in RyR2 causes familiar catecholaminergic polymorphic ventricular tachycardia

A novel variant in RyR2 causes familiar catecholaminergic polymorphic ventricular tachycardia

Catecholaminergic Polymorphic Ventricular Tachycardia in 2012

Role of Mapping and Ablation in Genetic Diseases: Long QT Syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia

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