Ask about this productRelated genes to: SCN5A antibody
- Gene:
- SCN5A NIH gene
- Name:
- sodium voltage-gated channel alpha subunit 5
- Previous symbol:
- CMD1E
- Synonyms:
- Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD
- Chromosome:
- 3p22.2
- Locus Type:
- gene with protein product
- Date approved:
- 1992-04-10
- Date modifiied:
- 2019-04-23
Related products to: SCN5A antibody
Related articles to: SCN5A antibody
- Cardiac toxicity from QT-prolonging drugs can precipitate malignant ventricular arrhythmias in susceptible individuals, and family screening may clarify inherited risk. We report a 33-year-old woman with a history of postpartum cardiac arrest treated with a secondary-prevention implantable cardioverter-defibrillator (ICD) who developed an electrical storm after self-administration of a single low dose of amitriptyline (12.5 mg). ICD interrogation documented 176 episodes of ventricular fibrillation requiring repeated shocks, followed by complete battery depletion, hemodynamic collapse, and the need for venoarterial extracorporeal membrane oxygenation and continuous renal replacement therapy. The admission electrocardiogram showed marked QT prolongation (QTc 651 ms), with previously documented prolonged baseline QTc values. Targeted next-generation sequencing identified a novel SCN5A missense variant (NM_000335.5:c.5738G > A) and a rare pathogenic KCNQ1 splice variant (NM_000218.3:c.1032G > C), cascade testing across the family demonstrated variable expressivity among carriers. Given a suspected contribution of late sodium current, a mechanism-based strategy was implemented with mexiletine added to propranolol and overdrive pacing (90 bpm). This case underscores the risk of malignant ventricular arrhythmias after exposure to QT-prolonging agents even at low doses, and supports genotype-informed, mechanism-based therapy to mitigate arrhythmic risk in patients with marked QT prolongation. - Source: PubMed
Publication date: 2026/05/13
Vo Thai DuyKieu Ngoc DungTran Le Uyen PhuongVan Khanh Nguyen ThiNguyen Tri ThucLo Li-WeiDao Thi Thanh Binh - Brugada syndrome (BrS) is a rare but potentially life-threatening condition that may lead to sudden cardiac death. Among the causes, dysfunctions of ion channels involved in the cardiac action potential (specifically in and genes) are particularly significant. Among diagnosed Brugada patients, fever-induced episodes occur in 20-30% of cases. Fever worsens sodium channel dysfunction, as elevated temperature further reduces their conductance. First clinical manifestation of BrS occurs usually during a febrile episode, especially in young people. We performed a multiparametric examination in addition to genetic analysis. We treated a 19-year-old man presenting with subfebrility. During the patient's subfebrile episodes, 12-lead ECG recordings revealed ST-segment elevations in leads V1-V3. Notably, the patient remained asymptomatic. Targeted genetic testing of did not reveal any disease-causing variants as an underlying cause of the syndrome, but the temperature-inducing effect was demonstrated. The occurrence of the Brugada type 1 pattern has also been observed at subfebrile episodes, although significantly rarely. This case demonstrates that in susceptible patients, even a relatively mild elevation in body temperature can trigger ion channel dysfunctions. Timely diagnosis and follow-up are important in preserving quality of life and preventing fatal outcomes. - Source: PubMed
Publication date: 2026/04/28
Hamza IldikóVégh LillaSebestyén VeronikaGulyás EszterJuhász BélaSomodi SándorRatku BalázsSzűcs ZsuzsannaKoczok KatalinBalogh IstvánSzabó ZoltánUjvárosy Dóra - SCN5A-E1784K (c.5350G>A) is the most common variant associated with the long QT (LQTS) and Brugada syndromes (BrS). It can manifest variably as LQTS, BrS and/or conduction disorders. This presents a challenge for risk stratification. We aimed to describe clinical and ECG characteristics and identify risk markers that associate with arrhythmic events. - Source: PubMed
Publication date: 2026/05/11
Tanck Michael W TWijeyeratne Yanushi DBarc JulienMuir AlisonAiba TakeshiBos Martijn JVeltmann ChristianGalvin JosephCrotti LiaIshikawa TaisukeOhno SeikoPage Stephen PDenjoy IsabelleTester David JMuggenthaler MartinaTakahashi KazuhiroRaju HariharanGourraud Jean BaptisteRedon RichardSchott Jean-JacquesHaglund-Turnquist CarlaPedrazzini MatteoAlberio ChiaraDagradi FedericaPapadakis MichaelSharma SanjayPetzer EdwardRoden Dan MHorie MinoruSchwartz Peter JMakita NaomasaBorggrefe Martin MAckerman Michael JShimizu WataruMcKeown Pascal PProbst VincentBehr Elijah R - We report a case of MEPPC syndrome presenting with severe dilated cardiomyopathy due to a pathogenic p.Arg814Trp variant. Genetic diagnosis enabled precision pharmacotherapy with hydroquinidine, which suppressed multifocal Purkinje-origin ectopy resistant to catheter ablation and led to marked improvement in left ventricular function. - Source: PubMed
Publication date: 2026/05/08
Ciofani Jonathan LRaju HariharanAnastasius Malcolm - - Source: PubMed