Results 71 to 80 of about 6,848 (166)

Population‐Based Study Found Low Risk of Misdiagnosing Long QT Syndrome as Breath‐Holding Spells in Swedish Children

Acta Paediatrica, Volume 115, Issue 5, Page 1116-1125, May 2026.
ABSTRACT Aim An electrocardiogram is commonly recommended in breath‐holding spell management, mainly to rule out long QT syndrome. This retrospective study investigated the risk of long QT syndrome being misdiagnosed as breath‐holding spells in a paediatric population in southern Sweden.
Sanna Hellström Schmidt, Ida Jeremiasen, Erik A. Eklund, Cornelis Jan Pronk   +3 more
wiley   +1 more source

Síndrome do QT longo: mutação trigénica, um caso raro

Revista Portuguesa de Cardiologia, 2015
Resumo: A síndrome do QT longo congénito (SQTLC) é uma doença hereditária rara, com uma incidência de uma em cada 2000 pessoas, caracterizada por uma repolarização ventricular prolongada e por taquiarritmias ventriculares malignas.Reportamos o caso de ...
Marina Fernandes, Sílvia Martins Ribeiro, Victor Sanfins, António Lourenço   +3 more
doaj   +1 more source

Detection of a novel pathogenic variant in KCNH2 associated with long QT syndrome 2 using whole exome sequencing

BMC Medical Genomics
Background Long QT syndrome (LQTS) is a cardiac channelopathy characterized by impaired myocardial repolarization that predisposes to life-threatening arrhythmias.
E. Kohansal, Niloofar Naderi, Amir Farjam Fazelifar, Majid Maleki, Samira Kalayinia   +4 more
semanticscholar   +1 more source

Connexin43 Deficiency Leads to Ventricular Arrhythmias by Reprogramming Proline Metabolism

Advanced Science, Volume 13, Issue 19, 2 April 2026.
The study demonstrated that connexin43 (Cx43) knockout caused arrhythmic phenotype and decreased proline content in vitro and in vivo. Mechanistically, Cx43 interacts with the amino acid transporter SNAT2 (sodium‐dependent neutral amino acid transporter), and its deficiency disrupts proline transport and metabolism.
Hangying Ying, Hangping Fan, Yunhe Wang, Ruhong Jiang, Dongsheng Cai, Hui Cheng, Hao Wang, Chenyang Jiang, Ping Liang   +8 more
wiley   +1 more source

Key role for Kv11.1 (ether‐a‐go‐go related gene) channels in rat bladder contractility

Physiological Reports, 2023
In addition, to their established role in cardiac myocytes and neurons, ion channels encoded by ether‐a‐go‐go‐related genes (ERG1‐3 or kcnh2,3 and 6) (kcnh2) are functionally relevant in phasic smooth muscle.
Vincenzo Barrese, Zena Wehbe, Alice Linden, Sarah McDowell, Elizabeth Forrester, Oleksander Povstyan, Karen D. McCloskey, Iain A. Greenwood   +7 more
doaj   +1 more source

Torsades de Pointes electrical storm in children with KCNH2 mutations

BMC Medical Genomics
Congenital long QT syndrome (LQTS) is a genetic heart disorder, which may lead to life-threatening arrhythmias, especially in children. Here, we reported two children who were initially misdiagnosed with epilepsy and experienced Torsades de Pointes (TdP)
Li Zhang, Meng Xu, Zhen Yan, Yan Han, Xunwei Jiang, Tingting Xiao, Cuilan Hou, Yun Li   +7 more
semanticscholar   +1 more source

Vascularized Cardiac Tissue Engineering: From Advances in Biofabrication to Translational Applications

Advanced Science, Volume 13, Issue 23, 23 April 2026.
This review presents a process‐oriented framework for vascularized cardiac tissue engineering, highlighting how the coordinated design of cells, biomaterials, and biofabrication strategies enables the functional development or vascularized myocardium for disease modelling and drug discovery.
Yang Liu, Zijie Zhang, Hongbin Li, Lino Prados‐Martin, Huanhong Li, Feng Cheng, Xia Tu, Khoon S. Lim, Wanlu Li, Mian Wang   +9 more
wiley   +1 more source

Sudden unexpected death in epilepsy (SUDEP): Risk management of pediatric patients with epilepsy

Epilepsia Open, Volume 11, Issue 2, Page 422-434, April 2026.
Abstract Objective Sudden unexpected death in epilepsy (SUDEP) is the leading cause of death in people with epilepsy with an incidence of 1:1000. The primary risk factors for SUDEP are generalized or focal to bilateral tonic–clonic seizures. Preventive measures like nighttime monitoring devices and resuscitation training address modifiable risk factors.
Laura Lutz, Lena Luise Becker, Alwina Koch, Angela M. Kaindl   +3 more
wiley   +1 more source

Population-specific variations in KCNH2 predispose patients to delayed ventricular repolarization upon dihydroartemisinin-piperaquine therapy

Antimicrobial Agents and Chemotherapy
Dihydroartemisinin-piperaquine is efficacious for the treatment of uncomplicated malaria and its use is increasing globally. Despite the positive results in fighting malaria, inhibition of the Kv11.1 channel (hERG; encoded by the KCNH2 gene) by ...
Mahamadou D. Camara, Yitian Zhou, Antoine Dara, Mamadou Tékété, Taís Nóbrega de Sousa, Sekou Sissoko, L. Dembélé, Nouhoun Ouologuem, Amadou Hamidou Togo, M. Alhousseini, Bakary Fofana, I. Sagara, Abdoulaye A. Djimdé, Pedro J. Gil, V. Lauschke   +14 more
semanticscholar   +1 more source

Bilateral Cardiac Sympathetic Denervation in Inherited Cardiac Arrhythmias

Journal of Arrhythmia, Volume 42, Issue 2, April 2026.
The figure shows the outcomes and adverse effects experienced by five patients who underwent BCSD for inherited arrhythmias, including CPVT and LQTS. BCSD resulted in significant or partial effects and favorable outcomes. Case 1: In a patient with CPVT, polymorphic ventricular tachycardia was not induced after BCSD.
Hisaaki Aoki, Michiko Minegishi, Katsunori Okajima, Takashi Kumamoto, Daiji Takeuchi   +4 more
wiley   +1 more source