PLoS Comput Biol. 2025 Nov 19;21(11):e1013616. doi: 10.1371/journal.pcbi.1013616. eCollection 2025 Nov.ABSTRACTPatients with abbreviated cardiac repolarization are at increased risk of cardiac arrhythmias including ventricular and atrial fibrillation (AF). In this computational simulation study, we
In cardiomyocytes, Kv7.1 associates with the regulatory subunit KCNE1 to generate the delayed rectifier potassium current I(Ks), which plays a crucial role in cardiac repolarization at elevated heart rates. Gain-of-function mutations in either of these subunits are associated with short QT syndrome,
Medicine (Baltimore). 2025 Sep 12;104(37):e44449. doi: 10.1097/MD.0000000000044449.ABSTRACTThe relationship between corrected QT (QTc) intervals and short-term clinical outcomes remains insufficiently investigated. This study examined correlations between QTc intervals and risks of arrhythmia or mor
Eur Heart J. 2026 Jan 7;47(2):199-213. doi: 10.1093/eurheartj/ehaf660.ABSTRACTBACKGROUND AND AIMS: Type 1 short QT syndrome (SQT1) is a genetic channelopathy caused by gain-of-function variants in KCNH2, resulting in shortened cardiac repolarization and QT intervals, which predispose patients to ven
Stem Cell Res. 2025 Oct;88:103815. doi: 10.1016/j.scr.2025.103815. Epub 2025 Aug 22.ABSTRACTThis study established an iPSC line, JXEYi001-A, from a 7-year-old male with a KCNJ2 mutation linked to ventricular arrhythmias (VA). KCNJ2 encodes Kir2.1, essential for cardiac repolarization; its mutations
Front Cardiovasc Med. 2025 Jul 31;12:1555512. doi: 10.3389/fcvm.2025.1555512. eCollection 2025.ABSTRACTOBJECTIVE: QT interval irregularities correlate with severe arrhythmias and sudden cardiac death. However, epidemiological data on QT intervals in Chinese adults are lacking. This study aimed to el
Eur Heart J Case Rep. 2025 Jul 24;9(8):ytaf348. doi: 10.1093/ehjcr/ytaf348. eCollection 2025 Aug.ABSTRACTBACKGROUND: A subcutaneous implantable cardioverter defibrillator (S-ICD) is an alternative to a conventional transvenous implantable cardioverter defibrillator for preventing sudden cardiac deat
Indian Pacing Electrophysiol J. 2025 Aug 2:S0972-6292(25)00109-3. doi: 10.1016/j.ipej.2025.07.018. Online ahead of print.ABSTRACTAt the beginning of the last century, quinidine had been shown to be highly effective in the management of atrial fibrillation and soon after of ventricular arrhythmias. A
Indian Pacing Electrophysiol J. 2025 Jul-Aug;25(4):264-273. doi: 10.1016/j.ipej.2025.07.017. Epub 2025 Jul 30.ABSTRACTAt the beginning of the last century, quinidine had been shown to be highly effective in the management of atrial fibrillation and soon after, of ventricular arrhythmias. At the end
Diagnostics (Basel). 2025 Jun 19;15(12):1568. doi: 10.3390/diagnostics15121568.ABSTRACTThe electrocardiogram (ECG) remains a cornerstone of modern cardiology, providing rapid, non-invasive, and widely accessible diagnostic insights. While ECG interpretation is an essential skill for clinicians, cert
J Saudi Heart Assoc. 2025 Jun 20;37(3):4. doi: 10.37616/2212-5043.1441. eCollection 2025.ABSTRACTOBJECTIVES: Inherited arrhythmia syndromes (IAS) are a group of rare disorders that result from genetic mutations in several genes including congenital long QT syndrome, Brugada syndrome (BrS), short QT
Circ J. 2025 May 13. doi: 10.1253/circj.CJ-24-0927. Online ahead of print.ABSTRACTShort QT syndrome (SQTS) is a very rare inherited arrhythmia characterized by extremely short QT intervals on electrocardiograms and sudden cardiac death in young patients. Among the genotypes of SQTS, gain-of-function
J Am Heart Assoc. 2025 May 6;14(9):e040072. doi: 10.1161/JAHA.124.040072. Epub 2025 Apr 25.ABSTRACTCardiac channelopathies, also known as primary electrical heart diseases, are inherited genetic abnormalities of cardiomyocyte electrical behavior. Notable for their absence of structural heart disease
KCNJ2 encodes the inward rectifying potassium channel (Kir2.1) that underlies I(K1) which maintains the cardiac resting membrane potential and regulates excitability. Mutations in KCNJ2 have been linked to several clinical phenotypes associated with life-threatening ventricular arrhythmia and sudden
J Pers Med. 2025 Mar 8;15(3):105. doi: 10.3390/jpm15030105.ABSTRACTBackground: Short QT syndrome (SQTS) is a rare inheritable channelopathy characterized by a shortened corrected QT interval on an electrocardiogram and a significant risk of atrial and ventricular arrhythmias, potentially leading to
Front Cardiovasc Med. 2025 Feb 24;12:1568459. doi: 10.3389/fcvm.2025.1568459. eCollection 2025.ABSTRACT[This corrects the article DOI: 10.3389/fcvm.2024.1369250.].PMID:40066354 | PMC:PMC11891939 | DOI:10.3389/fcvm.2025.1568459
Heart Rhythm. 2025 Jun;22(6):1541-1561. doi: 10.1016/j.hrthm.2025.03.1879. Epub 2025 Mar 7.ABSTRACTCardiac arrhythmias still represent a major health problem worldwide, at least in part because the fundamental pathogenic mechanisms are not fully understood, thus affecting the efficacy of therapeutic
Int J Mol Sci. 2025 Jan 30;26(3):1200. doi: 10.3390/ijms26031200.ABSTRACTInherited arrhythmia syndromes include several different diseases, as well as Brugada syndrome (BrS), long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and short QT syndrome (SQTS). They rep
Int J Mol Sci. 2024 Dec 12;25(24):13351. doi: 10.3390/ijms252413351.ABSTRACTShort QT syndrome type 3 (SQTS3 or SQT3), which is associated with life-threatening cardiac arrhythmias, is caused by heterozygous gain-of-function mutations in the KCNJ2 gene. This gene encodes the pore-forming α-subunit of
Europace. 2024 Dec 3;26(12):euae288. doi: 10.1093/europace/euae288.ABSTRACTAIMS: Little is known about the distribution and clinical course of patients with inherited arrhythmia syndrome (IAS) and concomitant atrial arrhythmias (AAs). The aim of the study is (i) to characterize the distribution of A
Hum Genet. 2024 Dec;143(12):1499-1508. doi: 10.1007/s00439-024-02713-x. Epub 2024 Nov 6.ABSTRACTGenetic testing is recommended in the diagnosis of short QT syndrome. This rare inherited lethal entity is characterized by structural normal hearts with short QT intervals in the electrocardiogram. Few f
Trends Cardiovasc Med. 2025 Feb;35(2):73-81. doi: 10.1016/j.tcm.2024.07.003. Epub 2024 Jul 28.ABSTRACTQuinidine, the first antiarrhythmic drug, was widely used during the 20th century. Multiple studies have been conducted to provide insights into the pharmacokinetics and pleiotropic effects of Class
Cardiovasc Res. 2024 Nov 5;120(13):1550-1561. doi: 10.1093/cvr/cvae149.ABSTRACTAIMS: Short QT syndrome type 1 (SQT1) is a genetic channelopathy caused by gain-of-function variants in human-ether-a-go-go (HERG) underlying the rapid delayed-rectifier K+ current (IKr), leading to QT-shortening, ventric
Inn Med (Heidelb). 2024 Aug;65(8):787-797. doi: 10.1007/s00108-024-01751-x. Epub 2024 Jul 8.ABSTRACTGenetic arrhythmia disorders are rare diseases; however, they are a common cause of sudden cardiac death in children, adolescents, and young adults. In principle, a distinction can be made between cha
