Catecholaminergic Polymorphic Ventricular Tachycardia

Abbas, Mohamed; Miles, Chris; Behr, Elijah R.

doi:10.15420/aer.2022.09

Cited by 9 publications

(10 citation statements)

References 78 publications

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“…Individuals with CPVT should be advised to avoid strenuous exercise and stressful situations. However, if stress tests reveal no signs of ventricular ectopy or arrhythmia while under treatment and a patient has been asymptomatic for at least three months, then participation in recreational sports of low-to-moderate intensity may be considered [ 12 ]. As primary arrhythmia prevention, β-adrenergic blocking agents without intrinsic sympathomimetic activity should be prescribed [ 11 ].…”

Section: Discussionmentioning

confidence: 99%

Cardiac Arrest From Undiagnosed Catecholaminergic Polymorphic Ventricular Tachycardia: A Case Report

Kuganeswaran,

Smith,

Chan

2023

Cureus

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Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited heart disease in which exercise or acute emotional stress can cause potentially fatal tachyarrhythmias. We present the case of a 16-year-old female patient with a history of unexplained palpitations and syncope who suddenly collapsed in her high school cafeteria following an impassioned debate. In cardiac arrest consisting of coarse ventricular fibrillation, she was resuscitated on-scene by the school nurse via automated external defibrillation. Months later, after substantial investigation, a diagnosis of CPVT was reached. The patient made a full neurological recovery, and one year post-arrest, she was event-free on β-blocker therapy. This case demonstrates the importance of clinician awareness of CPVT, an unusual but treatable cause of cardiac arrest. Because catecholamine administration is directly contraindicated for patients with CPVT, resuscitative and post-arrest care are unique. These patients tend to be previously healthy, with normal resting electrocardiograms and no cardiac structural abnormalities, making diagnosis quite challenging.

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Section: Discussionmentioning

confidence: 99%

Cardiac Arrest From Undiagnosed Catecholaminergic Polymorphic Ventricular Tachycardia: A Case Report

Kuganeswaran,

Smith,

Chan

2023

Cureus

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“…However, not all individuals with CPVT will have identifiable mutations. Holter monitoring and cardiac imaging like echocardiography may also be used to assess heart function and detect arrhythmias, but in the CPVT case, the presence of a structurally normal heart and ECG at rest is the most common [131]. The most effective form is exercise stress testing by a treadmill stress test [130].…”

Section: Diagnosismentioning

confidence: 99%

“…Moreover, epinephrine or isoproterenol provocation test may be considered in patients unable to perform exercise tests [6]. An exercise test may show VA in the form of polymorphic or bidirectional VT [131]. The CPVT diagnosis is typically made in people aged under 40 years [131].…”

Section: Diagnosismentioning

confidence: 99%

Primary Electrical Heart Disease—Principles of Pathophysiology and Genetics

Badura,

Buławska,

Dąbek

et al. 2024

IJMS

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Primary electrical heart diseases, often considered channelopathies, are inherited genetic abnormalities of cardiomyocyte electrical behavior carrying the risk of malignant arrhythmias leading to sudden cardiac death (SCD). Approximately 54% of sudden, unexpected deaths in individuals under the age of 35 do not exhibit signs of structural heart disease during autopsy, suggesting the potential significance of channelopathies in this group of age. Channelopathies constitute a highly heterogenous group comprising various diseases such as long QT syndrome (LQTS), short QT syndrome (SQTS), idiopathic ventricular fibrillation (IVF), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and early repolarization syndromes (ERS). Although new advances in the diagnostic process of channelopathies have been made, the link between a disease and sudden cardiac death remains not fully explained. Evolving data in electrophysiology and genetic testing suggest previously described diseases as complex with multiple underlying genes and a high variety of factors associated with SCD in channelopathies. This review summarizes available, well-established information about channelopathy pathogenesis, genetic basics, and molecular aspects relative to principles of the pathophysiology of arrhythmia. In addition, general information about diagnostic approaches and management is presented. Analyzing principles of channelopathies and their underlying causes improves the understanding of genetic and molecular basics that may assist general research and improve SCD prevention.

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“…CASQ2 is a protein with a significant function in regulating calcium levels within cardiac muscle cells and helps to maintain adequate calcium concentrations for physiologic muscle contraction and relaxation. Mutations in the CASQ2 interfere with its natural action, resulting in a buildup of calcium in the sarcoplasmic reticulum, which can trigger abnormal heart rhythms like CPVT [ 19 ].…”

Section: Reviewmentioning

confidence: 99%

“…Because the prognosis and clinical symptoms of this arrhythmia might be fatal, it is necessary to broaden the examination to uncover other CPVT instances within a family. Early diagnosis in childhood or adolescence is linked to a higher risk of future cardiac events [ 19 , 20 ]. Individuals with unstable ventricular arrhythmias, even if they are compliant with beta blocker medication, are also at high risk [ 20 , 21 ].…”

Section: Reviewmentioning

confidence: 99%

Catecholaminergic Polymorphic Ventricular Tachycardia and Gene Therapy: A Comprehensive Review of the Literature

Henriquez,

Hernandez,

Mundla

et al. 2023

Cureus

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Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited channelopathy. In this review, we summarize the epidemiology, pathophysiology, clinical characteristics, diagnostics, genetic mutations, standard treatment, and the emergence of potential gene therapy. This inherited cardiac arrhythmia presents in a bimodal distribution with no association between sex or ethnicity. Six different CPVT genes have been identified, however, most of the cases are related to a heterozygous, gain-of-function mutation on the ryanodine receptor-2 gene (RyR2) and calsequestrin-2 gene (CASQ2) that causes delayed after-depolarization. The diagnosis is clinically based, seen in patients presenting with syncope after exercise or stress-related emotions, as well as cardiac arrest with full recovery or even sudden cardiac death. Standard treatment relies on beta-blockers, with add-on therapy, flecainide, and cardiac sympathetic denervation as second-line treatments. An implantable cardioverter-defibrillator is indicated for patients who have suffered a cardiac arrest. Potential gene therapy has emerged in the last 20 years and accelerated because of associated viral vector application in increasing the efficiency of prolonged cardiac gene expression. Nevertheless, human trials for gene therapy for CPVT have been limited as the population is rare, and an excessive amount of funding is required.

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Catecholaminergic Polymorphic Ventricular Tachycardia

Cited by 9 publications

References 78 publications

Cardiac Arrest From Undiagnosed Catecholaminergic Polymorphic Ventricular Tachycardia: A Case Report

Cardiac Arrest From Undiagnosed Catecholaminergic Polymorphic Ventricular Tachycardia: A Case Report

Primary Electrical Heart Disease—Principles of Pathophysiology and Genetics

Catecholaminergic Polymorphic Ventricular Tachycardia and Gene Therapy: A Comprehensive Review of the Literature

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