Results 51 to 60 of about 72,190 (244)

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

Vomiting, electrolyte disturbance, and medications; the perfect storm for acquired long QT syndrome and cardiac arrest: a case report

Journal of Medical Case Reports, 2022
Background Acquired long QT syndrome is an important and preventable cause of cardiac arrest. Certain medications and electrolyte disturbance are common contributors, and often coexist. In this case, we report five contributors to cardiac arrest.
K. D. Tiver, D. Dharmaprani, J. X. Quah, A. Lahiri, K. E. Waddell-Smith, A. N. Ganesan   +5 more
doaj   +1 more source

Case Report: Expanding the Phenotypic Spectrum of Timothy Syndrome Type 1: A Sporadic Case With a de novo CACNA1C Pathogenic Variant and Segmental Ileal Dilatation

Frontiers in Pediatrics, 2021
Background: Long QT syndactyly syndrome (long QT syndrome type 8), also known as Timothy Syndrome (TS) was first described in 1994 with still <50 case reported in the literature.
Ahmed A. Nugud, Nermeen Mahmoud ELkholy, Awad Alkarim Omar, Abid Qazi, Christos Tzivinikos, Christos Tzivinikos, Nidheesh Chencheri, Sabina Khan, Muhammad Eyad Ba'Ath, Muhammad Eyad Ba'Ath   +9 more
doaj   +1 more source

Abnormal ECG Findings in Athletes: Clinical Evaluation and Considerations. [PDF]

, 2019
PURPOSE OF REVIEW: Pre-participation cardiovascular evaluation with electrocardiography is normal practice for most sporting bodies. Awareness about sudden cardiac death in athletes and recognizing how screening can help identify vulnerable athletes have
A Biffi, A Biffi, A D’Silva, A D’Silva, A Magalski, A Malhotra, A Malhotra, A Malhotra, A Merghani, A Morshedi-Meibodi, A Pelliccia, A Pelliccia, A Zaidi, A Zaidi, A Zorzi, A Zorzi, A Zorzi, AD Desai, AL Aro, AL Rao, AO Usoro, BJ Maron, BJ Maron, C Antzelevitch, C Calore, C Daubert, C Miles, D Corrado, D Corrado, D Corrado, D Corrado, F D’Ascenzi, F Migliore, F Schnell, FI Marcus, G Finocchiaro, G Malfatto, G Mcclean, GJ Klein, GJ Klein, H Dhutia, H Morita, HUH Virk, J Basu, J Ehtisham, J Marek, J Novak, J Pei, J Steinfurt, JA Drezner, JA Drezner, KG Harmon, KM Park, L Calò, L Verdile, M Brosnan, M Papadakis, M Papadakis, M Sadron Blaye-Felice, MAE Haukilahti, Mark Abela, MG Wilson, MI Cohen, MJ Ackerman, MJ Brosnan, N Chandra, N Panhuyzen-goedkoop, N Sheikh, P Banankhah, PG Postema, PT Matusik, RE Bent, RE Eckart, S Gati, S Kapa, S Masrur, S Peters, S Sharma, S Viskin, Sanjay Sharma, SEE Page, T Senturk, X Li, YH Lee   +83 more
core   +1 more source

Brugada Syndrome: New Implications for Heterozygous Carriers of the Pathogenic SCN5A c.689T>C(p.Ile230Thr) Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in the SCN5A gene and its subunits have been identified in individuals with Brugada Syndrome. One such SCN5A variant, c.689T>C(p.Ile230Thr), was previously reported as disease‐causing only in homozygous individuals, with heterozygous carriers being unaffected.
Shayla Shojaat, Benjamin Hale, Taylor Warner   +2 more
wiley   +1 more source

The role of Volatile Anesthetics in Cardioprotection: a systematic review. [PDF]

, 2012
This review evaluates the mechanism of volatile anesthetics as cardioprotective agents in both clinical and laboratory research and furthermore assesses possible cardiac side effects upon usage.
Applegate, Richard L, Krafft, Paul R, Leitzke, Arthur S, Tang, Jiping, Van Allen, Nicole R, Zhang, John H   +5 more
core   +1 more source

Long‐Term Outcomes of Reduced‐Intensity Conditioning Hematopoietic Stem Cell Transplantation for Patients With Systemic Sclerosis With Impaired Cardiac Function

Arthritis &Rheumatology, EarlyView.
Objective High‐intensity conditioning autologous hematopoietic stem cell transplantation (AHSCT) is standard of care for patients with advanced systemic sclerosis (SSc). The role of reduced‐intensity conditioning (RIC) before AHSCT in this population remains unclear.
Yonatan Lean, Carrie Richardson, Anthony J. Esposito, Katy Bedjeti, George E. Georges   +4 more
wiley   +1 more source

TWEAK/Fn14 signaling drives oxidative cardiac injury in systemic lupus erythematosus: Evidence from patient biomarker studies, lupus mouse models, and cardiomyocyte assays

Arthritis &Rheumatology, Accepted Article.
Objective Cardiac involvement is a major cause of morbidity in systemic lupus erythematosus (SLE). Tumor necrosis factor–like weak inducer of apoptosis (TWEAK) is elevated in SLE, but its contribution to lupus‐associated cardiac injury is unclear. We investigated the role of TWEAK/Fn14 signaling in SLE‐related cardiomyopathy and its potential as a ...
Yale Liu, Zhu Yan, Xueting Peng, Meixuan Li, Juan Wang, Yan Zhang, Xiaoqian Hu, Mingzhu Zhou, Kaixuan Ren, Dan Zhang, Xingyi Guo, Yumin Xia, Huanhuan Huo   +12 more
wiley   +1 more source

Treatement methodes for Long QT syndrome

Journal of Education, Health and Sport, 2018
Long QT syndrome (LQTS) is a potentially fatal cardiac disorder caused by channelopathies. Such arrhythmia is often life threatening and might cause sudden cardiac death. There are many reasons of LQTS especially: specific medications and/or electrolytes
Erwin Ciechański, Magda Ciechańska, Krystian Ciechański, Jarosław Szponar   +3 more
doaj   +3 more sources

Position of Premature Termination Codons Determines Susceptibility of hERG Mutations to Nonsense-Mediated mRNA Decay in Long QT Syndrome

, 2014
The degradation of human ether-a-go-go-related gene (hERG, KCNH2) transcripts containing premature termination codon (PTC)mutations by nonsense-mediatedmRNA decay (NMD) is an importantmechanismof long QT syndrome type 2 (LQT2).
Gong, Qiuming, Stump, Matthew R., Zhou, Zhengfeng   +2 more
core   +1 more source