Results 51 to 60 of about 9,233 (239)

A Novel Frameshift Mutation, KCNH2 [p.Asp896ArgfsX79], Leading to Malignant Ventricular Arrhythmia, Identified After Treatment of Gastrointestinal BleedingNovel Teaching Points

CJC Open, 2021
A novel frameshift mutation in the KCNH2 gene for long QT syndrome type 2 (LQTS2) was identified after torsades des pointes ventricular tachycardia in a 49-year-old patient managed with octreotide and nadolol for an acute variceal bleed.
Wan Cheol Kim, MD, FRCPC, Edmond Lemire, MD, PhD, FRCPC, FCCMG, Siddarth Nosib, BSc, Shravankumar Nosib, MD, FRCPC   +3 more
doaj   +1 more source

Digenic heterozygous mutations of KCNH2 and SCN5A induced young and early‐onset long QT syndrome and sinoatrial node dysfunction

Annals of Noninvasive Electrocardiology, 2022
Introduction Long QT syndrome (LQTS) is a life‐threatening inherited channelopathy, and prolonged QT intervals easily trigger malignant arrhythmias, especially torsades de pointes and ventricular fibrillation.
Zhe Yang, Yuting Ma, Jiana Huang, Jianzhong Xian, Yin Huang, Linbo Wu, WenLiang Zhu, Feng Wang, Liang Chen, Xiufang Lin, Yubi Lin   +10 more
doaj   +1 more source

Human induced pluripotent stem cell line ZZUNEUi027-A generated from a long QT syndrome patient with a heterozygous KCNH2 (c. 128 A > G) mutant

Stem Cell Research, 2022
Long QT syndrome is one of the most common hereditary arrhythmias. Mutations in KCNH2 can cause long QT syndrome type 2 (LQT2). In this study, we generated a human induced pluripotent stem cell line ZZUNEUi027-A from a LQT2 female patient with c.
Jiangtao Zhao, Lu Wang, Kui Zhu, Xiaowei Chen, Fen Qin, Xiaowei Li, Jianzeng Dong, Hailong Tao   +7 more
doaj   +1 more source

A rare KCNE1 polymorphism, D85N, as a genetic modifier of long QT syndrome

Journal of Arrhythmia, 2014
Background: The gene KCNE1 encodes the β-subunit of cardiac voltage-gated K+ channels and causes long QT syndrome (LQTS). LQTS is characterized by the prolongation of QT interval and lethal arrhythmias such as torsade de pointes (TdP).
Kanae Hasegawa, MD, Seiko Ohno, MD, PhD, Hideki Itoh, MD, PhD, Takeru Makiyama, MD, PhD, Takeshi Aiba, MD, PhD, Yasutaka Nakano, MD, PhD, Wataru Shimizu, MD, PhD, Hiroshi Matsuura, MD, PhD, Naomasa Makita, MD, PhD, Minoru Horie, MD, PhD   +9 more
doaj   +1 more source

Generation of induced pluripotent stem cells (iPSCs) from a Chinese infant (XACHi015-A) with type 2 Long QT syndrome carrying the heterozygous mutation c.1814C>T(p.P605L) in KCNH2

Stem Cell Research, 2021
Induced pluripotent stem cell lines (iPSCs) were generated from peripheral blood mononuclear cells (PBMCs) isolated from the peripheral blood of a ten years old boy with the type 2 Long QT syndrome carrying the heterozygous mutation c.1814C>T(p.P605L) in
Tao Wang, Yafei Zhou, Rui Zhou, Wenjun Huang, Jie Wang, Huan Li, Ming Lei, Xiaoqiu Tan, Yanmin Zhang   +8 more
doaj   +1 more source

An InterdomainKCNH2Mutation Produces an Intermediate Long QT Syndrome [PDF]

Human Mutation, 2015
Hereditary long QT syndrome is caused by deleterious mutation in one of several genetic loci, including locus LQT2 that contains the KCNH2 gene (or hERG, human ether-a-go-go related gene), causing faulty cardiac repolarization. Here, we describe and characterize a novel mutation, p.Asp219Val in the hERG channel, identified in an 11-year-old male with ...
Marika L, Osterbur, Renjian, Zheng, Robert, Marion, Christine, Walsh, Thomas V, McDonald   +4 more
openaire   +2 more sources

Exploring the impact of a KCNH2 missense variant on Long QT syndrome: insights into a novel gender-selective, incomplete penetrance inheritance mode

Frontiers in Genetics
BackgroundLong QT syndrome (LQTS) is an inherited malignant arrhythmia syndrome that poses a risk of sudden death. Variants in the Potassium Voltage-Gated Channel Subfamily H Member 2 (KCNH2) gene are known to cause Long QT syndrome through an autosomal ...
Peng Chen, Peng Chen, Zainul Zampawala, Hong Wang, Luyun Wang   +4 more
doaj   +1 more source

Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity [PDF]

, 2015
BACKGROUND: With the advent of affordable and comprehensive sequencing technologies, access to molecular genetics for clinical diagnostics and research applications is increasing.
Balding, DJ, Cook, SA, Ruklisa, D, Walsh, R, Ware, JS   +4 more
core   +4 more sources

Comprehensive translational assessment of human-induced pluripotent stem cell derived cardiomyocytes for evaluating drug-induced arrhythmias [PDF]

, 2016
Induced pluripotent stem cell-derived cardiomyocytes (iPSC-CM) hold promise for assessment of drug-induced arrhythmias and are being considered for use under the comprehensive in vitro proarrhythmia assay (CiPA).
Blinova, Ksenia, Brock, Mathew, Chan, Dulciana, Chvatal, Stacie, Crumb, William J., Galeotti, Loriano, Hortigon-Vinagre, Maria P., Johannesen, Lars, Lyn-Cook, Beverly, Millard, Daniel, Pang, Li, Ross, James, Smith, Godfrey, Stockbridge, Norman, Stohlman, Jayna, Strauss, David G., Vicente, Jose, Zamora Rodriguez, Victor   +17 more
core   +1 more source

Congenital Long QT Syndrome: An Update and Present Perspective in Saudi Arabia [PDF]

, 2013
Primary cardiac arrhythmias are often caused by defects, predominantly in the genes responsible for generation of cardiac electrical potential, i.e., cardiac rhythm generation.
Al-Aama, J., Al-Shahrani, S., Bhuiyan, Z.A., Momenah, T.S., Wilde, A.A.M.   +4 more
core   +1 more source