ArticleHeart rhythm2010
Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death.
Article in Heart rhythm, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 191 papers, 1 of them a synthesis that pooled it.
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Who cites it
191 citing papers in PubMed, 1 synthesis or guideline pooled it, 428 citations in OpenAlex.
- A meta-analysis of genome-wide association studies of the electrocardiographic early repolarization pattern.Heart rhythm · 2012Pooled it
- Association between CACNA1C gene polymorphisms and ritodrine-induced adverse events in preterm labor patients.European journal of clinical pharmacology · 2017Trial
- Local calcium dynamics and signalling in cardiomyocytes.Nature reviews. Cardiology · 2026Review
- In silico modelling of multi-electrode arrays for enhancing cardiac drug testing on hiPSC-CM heterogeneous tissues.The Journal of physiology · 2026Article
- The Correlation Between Plasma CACNA2D1 Protein Concentration and the Severity of Coronary Heart Disease.Journal of cardiovascular development and disease · 2026Article
- Exploration of the Role of Cilostazol in Brugada Syndrome: Mechanisms, Therapeutic Potential, and Implications in the Prevention of Ventricular Arrhythmias.Reviews in cardiovascular medicine · 2026Review
- Successful Isoproterenol Treatment for Ventricular Fibrillation Storm in Early Repolarization Syndrome With SCN5A Mutation.Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc · 2026Article
- Functional Profiling ofCirculation. Genomic and precision medicine · 2025Article
- AHeartRhythm case reports · 2025Article
- Timothy Syndrome and CACNA1C-Related Disorder: First International Language and Management Guidelines Consensus Statement.Research square · 2025Article
- Targeting Calcium Regulation for Heart Failure and Arrhythmia Therapeutics: A Critical Review.Circulation · 2025Review
- Brugada syndrome.Nature reviews. Disease primers · 2025Review
- The Uncommon Phenomenon of Short QT Syndrome: A Scoping Review of the Literature.Journal of personalized medicine · 2025Review
- Genetic Background and Clinical Phenotype in an Italian Cohort with Inherited Arrhythmia Syndromes and Arrhythmogenic Cardiomyopathy (ACM): A Whole-Exome Sequencing Study.International journal of molecular sciences · 2025Article
- Review
- Novel heterozygous mutation of CACNA2D1 gene in a Chinese family with arrhythmia.BMC cardiovascular disorders · 2024Article
- Article
- Development ofTranslational and clinical pharmacology · 2024Article
- Structural bases of inhibitory mechanism of CaNature communications · 2024Article
- Primary Electrical Heart Disease-Principles of Pathophysiology and Genetics.International journal of molecular sciences · 2024Review
131 more citing papers are in PubMed but not listed here.
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Authors and funding
24 authors at 14 institutions in 6 countries.
Funding
Abstract
backgroundL-type calcium channel (LTCC) mutations have been associated with Brugada syndrome (BrS), short QT (SQT) syndrome, and Timothy syndrome (LQT8). Little is known about the extent to which LTCC mutations contribute to the J-wave syndromes associated with sudden cardiac death.
objectiveThe purpose of this study was to identify mutations in the α1, β2, and α2δ subunits of LTCC (Ca(v)1.2) among 205 probands diagnosed with BrS, idiopathic ventricular fibrillation (IVF), and early repolarization syndrome (ERS). CACNA1C, CACNB2b, and CACNA2D1 genes of 162 probands with BrS and BrS+SQT, 19 with IVF, and 24 with ERS were screened by direct sequencing. METHODS/
resultsOverall, 23 distinct mutations were identified. A total of 12.3%, 5.2%, and 16% of BrS/BrS+SQT, IVF, and ERS probands displayed mutations in α1, β2, and α2δ subunits of LTCC, respectively. When rare polymorphisms were included, the yield increased to 17.9%, 21%, and 29.1% for BrS/BrS+SQT, IVF, and ERS probands, respectively. Functional expression of two CACNA1C mutations associated with BrS and BrS+SQT led to loss of function in calcium channel current. BrS probands displaying a normal QTc had additional variations known to prolong the QT interval.
conclusionThe study results indicate that mutations in the LTCCs are detected in a high percentage of probands with J-wave syndromes associated with inherited cardiac arrhythmias, suggesting that genetic screening of Ca(v) genes may be a valuable diagnostic tool in identifying individuals at risk. These results are the first to identify CACNA2D1 as a novel BrS susceptibility gene and CACNA1C, CACNB2, and CACNA2D1 as possible novel ERS susceptibility genes.
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