ArticleEuropean heart journal2022
Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death.
Article in European heart journal, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 77 papers, 1 of them a synthesis that pooled it.
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Who cites it
77 citing papers in PubMed, 1 synthesis or guideline pooled it, 131 citations in OpenAlex.
- Diagnosis and management of very rare primary arrhythmia syndromes in children and adults: a Clinical Consensus Statement of the European Heart Rhythm Association of the ESC and the Association of Cardiovascular Nursing & Allied Professions of the ESC, endorsed by the Association for European Paediatric and Congenital Cardiology.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2026Guideline
- Molecular mechanisms of sudden unexplained death and recent updates on molecular autopsy strategies for forensic investigation.International journal of legal medicine · 2026Review
- Trauma triggered catecholaminergic polymorphic ventricular tachycardia manifesting as cardiac arrest in a child: a case report.BMC cardiovascular disorders · 2026Article
- Timothy syndrome and CACNA1C-Related Disorder: first international language and management guidelines consensus statement.European journal of human genetics : EJHG · 2026Review
- Comprehensive Pathologic and Genetic Investigation of Four Young Adults with a Short QT Interval and Sudden Unexpected Death.The Journal of molecular diagnostics : JMD · 2026Article
- Repurposing polyamines to prevent life-threatening arrhythmias in Short QT Syndrome type 3.Nature communications · 2026Article
- Gene Therapy for Cardiovascular and Cerebrovascular Disease: Mechanisms, Translational Barriers, and the Road Ahead.Biomedicines · 2026Review
- Familial Short QT Syndrome: Phenotypic Variability and Challenges in Risk Stratification.Journal of clinical medicine · 2026Article
- Structural Evaluation ofCirculation. Genomic and precision medicine · 2026Article
- Structural and Functional Regulation of RyR2 in Cardiac Calcium Handling and Arrhythmogenesis.Biomedicines · 2026Review
- Assessment of paralogue annotation for improving diagnostic accuracy inFrontiers in genetics · 2026Article
- Electromechanical and structural phenotypes from cardiac imaging and epicardial mapping in inherited arrhythmia syndromes.Frontiers in cardiovascular medicine · 2026Review
- Polymorphic ventricular tachycardia with mutation in KCNJ2: case report.Frontiers in cardiovascular medicine · 2026Article
- Long-term follow-up of patients with catecholaminergic polymorphic ventricular tachycardia related to a novelJournal of cardiology cases · 2026Article
- Clinical and genetic analysis of pediatric catecholaminergic polymorphic ventricular tachycardia: focus on sinus bradycardia and neurodevelopmental disorders.Frontiers in pediatrics · 2026Article
- Epidemiology of paediatric inherited arrhythmogenic diseases under "Real World" conditions: findings from a 10-year longitudinal study in Eastern Austria.European journal of pediatrics · 2025Article
- Timothy Syndrome and CACNA1C-Related Disorder: First International Language and Management Guidelines Consensus Statement.Research square · 2025Article
- The role of iPSC research for insight into inherited arrhythmia conditions.Heart rhythm · 2025Review
- [Molecular autopsy: post-mortem genetic testing following sudden cardiac death].Innere Medizin (Heidelberg, Germany) · 2025Article
- Cardiac arrhythmias and genetics - current stage.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2025Article
17 more citing papers are in PubMed but not listed here.
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Authors and funding
20 authors at 11 institutions in 5 countries.
Funding
Abstract
aimsCatecholaminergic polymorphic ventricular tachycardia (CPVT) and short QT syndrome (SQTS) are inherited arrhythmogenic disorders that can cause sudden death. Numerous genes have been reported to cause these conditions, but evidence supporting these gene-disease relationships varies considerably. To ensure appropriate utilization of genetic information for CPVT and SQTS patients, we applied an evidence-based reappraisal of previously reported genes. METHODS AND
resultsThree teams independently curated all published evidence for 11 CPVT and 9 SQTS implicated genes using the ClinGen gene curation framework. The results were reviewed by a Channelopathy Expert Panel who provided the final classifications. Seven genes had definitive to moderate evidence for disease causation in CPVT, with either autosomal dominant (RYR2, CALM1, CALM2, CALM3) or autosomal recessive (CASQ2, TRDN, TECRL) inheritance. Three of the four disputed genes for CPVT (KCNJ2, PKP2, SCN5A) were deemed by the Expert Panel to be reported for phenotypes that were not representative of CPVT, while reported variants in a fourth gene (ANK2) were too common in the population to be disease-causing. For SQTS, only one gene (KCNH2) was classified as definitive, with three others (KCNQ1, KCNJ2, SLC4A3) having strong to moderate evidence. The majority of genetic evidence for SQTS genes was derived from very few variants (five in KCNJ2, two in KCNH2, one in KCNQ1/SLC4A3).
conclusionsSeven CPVT and four SQTS genes have valid evidence for disease causation and should be included in genetic testing panels. Additional genes associated with conditions that may mimic clinical features of CPVT/SQTS have potential utility for differential diagnosis.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.