Catecholaminergic Polymorphic Ventricular Tachycardia

Lieve, Krystien V.V.; Werf, Christian van der; Wilde, Arthur A.M.

doi:10.1253/circj.cj-16-0326

Cited by 80 publications

(76 citation statements)

References 70 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…CPVT is a rare disease with an estimated prevalence of 1:10,000 [159,160]. CPVT commonly manifests at an early age and has poor spontaneous outcome [161].…”

Section: Catecholaminergic Polymorphic Ventricular Tachycardiamentioning

confidence: 99%

Cardiac Channelopathies and Sudden Death: Recent Clinical and Genetic Advances

Fernández-Falgueras

Sarquella-Brugada

Brugada

et al. 2017

Biology

113

View full text Add to dashboard Cite

Sudden cardiac death poses a unique challenge to clinicians because it may be the only symptom of an inherited heart condition. Indeed, inherited heart diseases can cause sudden cardiac death in older and younger individuals. Two groups of familial diseases are responsible for sudden cardiac death: cardiomyopathies (mainly hypertrophic cardiomyopathy, dilated cardiomyopathy, and arrhythmogenic cardiomyopathy) and channelopathies (mainly long QT syndrome, Brugada syndrome, short QT syndrome, and catecholaminergic polymorphic ventricular tachycardia). This review focuses on cardiac channelopathies, which are characterized by lethal arrhythmias in the structurally normal heart, incomplete penetrance, and variable expressivity. Arrhythmias in these diseases result from pathogenic variants in genes encoding cardiac ion channels or associated proteins. Due to a lack of gross structural changes in the heart, channelopathies are often considered as potential causes of death in otherwise unexplained forensic autopsies. The asymptomatic nature of channelopathies is cause for concern in family members who may be carrying genetic risk factors, making the identification of these genetic factors of significant clinical importance.

show abstract

“…CPVT is a rare disease with an estimated prevalence of 1:10,000 [159,160]. CPVT commonly manifests at an early age and has poor spontaneous outcome [161].…”

Section: Catecholaminergic Polymorphic Ventricular Tachycardiamentioning

confidence: 99%

Cardiac Channelopathies and Sudden Death: Recent Clinical and Genetic Advances

Fernández-Falgueras

Sarquella-Brugada

Brugada

et al. 2017

Biology

113

View full text Add to dashboard Cite

show abstract

“…Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare (prevalence: 1/10,000) channelopathy characterized by premature ventricular contractions (PVCs), and monomorphic, bidirectional, or polymorphic ventricular tachycardia (VT). Arrhythmias are often triggered by exercise, acute emotion, or stress and most patients with CPVT have structurally normal hearts and normal resting electrocardiograms (ECG) . In addition to VT, atrial arrhythmias such as atrial fibrillation (AF), atrial flutter, and atrial abnormalities such as sinus node dysfunction and atrial standstill have been reported .…”

Section: Introductionmentioning

confidence: 99%

A large deletion in RYR2 exon 3 is associated with nadolol and flecainide refractory catecholaminergic polymorphic ventricular tachycardia

Kohli

Aziz

Beaser

et al. 2019

Pacing Clinical Electrophis

View full text Add to dashboard Cite

We report a 17‐year‐old boy with a large RYR2 exon 3 deletion who has a severe catecholaminergic polymorphic ventricular tachycardia (CPVT) phenotype characterized by refractoriness to both nadolol and flecainide which has previously not been reported in this subgroup of CPVT patients. Treatment options in a patient like ours are therefore limited and sympathectomy and implantable cardioverter‐defibrillator implantation should be considered early in the treatment course as was done in this patient. In contrast to other CPVT patients who do not usually have structural cardiac abnormalities, these patients are at a high risk of developing left ventricular noncompaction or dilated cardiomyopathy and therefore might benefit from cardiac imaging at regular intervals.

show abstract

“…Variants in cardiac ryanodine receptor ( RYR2 ) and calsequestrin 2 ( CASQ2 ) are most common, contributing to ~60% and 5% of CPVT cases, respectively. 6 Additional genes, including Calmodulin 1( CALM1 ) and Triadin ( TRDN ), are also associated with CPVT. 6 At the molecular level, CPVT is commonly associated with aberrant sarcoplasmic reticulum calcium release through RyR2.…”

mentioning

confidence: 99%

“…6 Additional genes, including Calmodulin 1( CALM1 ) and Triadin ( TRDN ), are also associated with CPVT. 6 At the molecular level, CPVT is commonly associated with aberrant sarcoplasmic reticulum calcium release through RyR2. 6 Incomplete penetrance, diverse inheritance patterns, and phenocopy of other cardiac arrhythmia syndromes complicate the genetic understanding of disease.…”

mentioning

confidence: 99%

“…6 At the molecular level, CPVT is commonly associated with aberrant sarcoplasmic reticulum calcium release through RyR2. 6 Incomplete penetrance, diverse inheritance patterns, and phenocopy of other cardiac arrhythmia syndromes complicate the genetic understanding of disease. Notably, in about one-third of CPVT cases, no causative pathogenic variant has been identified.…”

mentioning

confidence: 99%

See 1 more Smart Citation