Cited by 933Cardiac electrophysiology and arrhythmiasIon channel regulation and functionCardiovascular Effects of Exercise

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Loss-of-Function Mutations in the Cardiac Calcium Channel Underlie a New Clinical Entity Characterized by ST-Segment Elevation, Short QT Intervals, and Sudden Cardiac Death

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Antzelevitch, Charles, Pollevick, Guido D., Cordeiro, Jonathan M., Casis, Oscar, Sanguinetti, Michael C., Aizawa, Yoshiyasu, Guerchicoff, Alejandra, Pfeiffer, Ryan, Oliva, Antonio, Wollnik, Bernd, Gelber, Philip, Bonaros, Elias P., Burashnikov, Elena, Wu, Yuesheng, Sargent, John D., Schickel, Stefan, Oberheiden, Ralf, Bhatia, Atul, Hsu, Li-Fern, Haïssaguerre, Michel, Schimpf, Rainer, Borggrefe, Martin, Wolpert, Christian·2007·Circulation

DOI 10.1161/circulationaha.106.668392PMC PMC1952683

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Abstract

Background— Cardiac ion channelopathies are responsible for an ever-increasing number and diversity of familial cardiac arrhythmia syndromes. We describe a new clinical entity that consists of an ST-segment elevation in the right precordial ECG leads, a shorter-than-normal QT interval, and a history of sudden cardiac death. Methods and Results— Eighty-two consecutive probands with Brugada syndrome were screened for ion channel gene mutations with direct sequencing. Site-directed mutagenesis was performed, and CHO-K1 cells were cotransfected with cDNAs encoding wild-type or mutant CACNB2b (Ca vβ2b ), CACNA2D1 (Ca vα2δ1 ), and CACNA1C tagged with enhanced yellow fluorescent protein (Ca v 1.2). Whole-cell patch-clamp studies were performed after 48 to 72 hours. Three probands displaying ST-segment elevation and corrected QT intervals ≤360 ms had mutations in genes encoding the cardiac L-type calcium channel. Corrected QT ranged from 330 to 370 ms among probands and clinically affected family members. Rate adaptation of QT interval was reduced. Quinidine normalized the QT interval and prevented stimulation-induced ventricular tachycardia. Genetic and heterologous expression studies revealed loss-of-function missense mutations in CACNA1C (A39V and G490R) and CACNB2 (S481L) encoding the α 1 - and β 2b -subunits of the L-type calcium channel. Confocal microscopy revealed a defect in trafficking of A39V Ca v 1.2 channels but normal trafficking of channels containing G490R Ca v 1.2 or S481L Ca vβ2b -subunits. Conclusions— This is the first report of loss-of-function mutations in genes encoding the cardiac L-type calcium channel to be associated with a familial sudden cardiac death syndrome in which a Brugada syndrome phenotype is combined with shorter-than-normal QT intervals.

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Dokuparthi, M. V. N., Pamuru, P. R., Oruganti, S. S., Calambur, N., & Nallari, P. (2009) · Indian Journal of Human Genetics · doi:10.4103/0971-6866.55216
“, at the ARVD/C-6 locus has already been implicated for inherited cardiac arrhythmic syndrome called Brugada syndrome.[14] Therefore this gene could also be a candidate gene for ARVD/C as the function of this gene is homologous to that of RYR-2 (ARVD/C-2).”
Background
One Small Step
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第10回臨床心臓病フォーラムテーマ「心筋再分極の異常に伴う心電図変化」
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Abnormal Atrial Action Potential Restitution and Increased Intraatrial Conduction Time Contribute to the Inducibility of Atrial Fibrillation in Brugada Syndrome
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Research Advances in Genes Related to Vestibular Migraine
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Human induced pluripotent stem cells for modeling Brugada syndrome
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Molecular Basis of Impulse Generation and Propagation
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Self-citation
Genetics of Electrophysiologic Disorders
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Congenital short-QT syndrome
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Genetic Architecture, Pathophysiology, and Clinical Management of Brugada Syndrome
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2 – Voltage-Gated Calcium Channels
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Authors: Antzelevitch, C., Pollevick, G. D., Cordeiro, J. M., Casis, O., Sanguinetti, M. C., Aizawa, Y., Guerchicoff, A., Pfeiffer, R., Oliva, A., Wollnik, B., Gelber, P., Bonaros, E. P., Burashnikov, E., Wu, Y., Sargent, J. D., Schickel, S., Oberheiden, R., Bhatia, A., Hsu, L.-F., Haïssaguerre, M., Schimpf, R., Borggrefe, M., & Wolpert, C.
Affiliations: University of Cologne (DE)
From the Masonic Medical Research Laboratory (C.A., G.D.P., J.M.C., H.A., A.G., R.P., A.O., E.B., Y.W.), Utica, NY; Nora Eccles Harrison Cardiovascular Research and Training Institute (O.C., M.C.S., J.D.S.), University of Utah, Salt Lake City, Utah; Center for Molecular Medicine Cologne (B.W.), Institute of Human Genetics, University of Cologne, Germany; Cardiovascular Consultants of Long Island (P.G., E.P.B.), New Hyde Park, NY; Department of Internal Medicine (S.S., R.O.), Academic Hospital...
ORCID: Antzelevitch, Charles
Cordeiro, Jonathan M.
Sanguinetti, Michael C.
Aizawa, Yoshiyasu
Guerchicoff, Alejandra
Pfeiffer, Ryan
Oliva, Antonio
Wollnik, Bernd
Bhatia, Atul
Borggrefe, Martin
Venue: Circulation
Publisher: Ovid Technologies (Wolters Kluwer Health)
Published: 2007-01-30
Volume: 115
Issue: 4
Pages: 442-449
ISSN: 0009-7322 (ISSN-L)
1524-4539
DOI: 10.1161/circulationaha.106.668392
PMC: PMC1952683
OpenAlex: W2089861793
Cited by: 933
References: 0
Citations by year: 2026: 9 · 2025: 17 · 2024: 22 · 2023: 24 · 2022: 25 · 2021: 35 · 2020: 34 · 2019: 35 · 2018: 47 · 2017: 60 · 2016: 55 · 2015: 51 · 2014: 44 · 2013: 85 · 2012: 82
FWCI: 54.48
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Locations: Circulation (publishedVersion)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
GRO (submittedVersion)
Funders: National Heart, Lung, and Blood Institute (R01HL047678)
Topics: Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ion channel regulation and function
Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiovascular Effects of Exercise
Keywords: Brugada syndrome, L-type calcium channels, CACNA1C, CACNB2, CACNA2D1, loss-of-function mutations, sudden cardiac death, short QT interval, ST-segment elevation, cardiac ion channelopathy, channel trafficking, quinidine, ventricular tachycardia, familial arrhythmia
MeSH terms: Adult, Animals, Cricetulus, Electrocardiography, Family Health, Female, Cricetinae, Humans, Genetic Linkage, Male, Phenotype, Registries, Ventricular Fibrillation, Calcium Channels, Mutagenesis, Site-Directed, CHO Cells, Death, Sudden, Cardiac, Tachycardia, Ventricular, Patch-Clamp Techniques, Mutation, Missense, Calcium Channels, L-Type, White People

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Loss-of-Function Mutations in the Cardiac Calcium Channel Underlie a New Clinical Entity Characterized by ST-Segment Elevation, Short QT Intervals, and Sudden Cardiac Death

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