Results 31 to 40 of about 2,246,673 (121)

Every face tells a story-unravelling a case of bidirectional ventricular tachycardia

Indian Pacing and Electrophysiology Journal, 2020
Bidirectional ventricular tachycardia is a rare form of tachycardia. We hereby report a case of bidirectional ventricular tachycardia in an 8-year-old boy wherein careful clinical exami-nation led to the diagnosis of Andersen Tawil syndrome.
Sakshi Sachdeva, Saurabh Kumar Gupta, Nitish Naik   +2 more
doaj   +1 more source

Andersen-Tawil syndrome

Definitions, 2020
Andersen–Tawil syndrome (ATS) is a very rare orphan genetic multisystem channelopathy without structural heart disease (with rare exceptions). ATS type 1 is inherited in an autosomal dominant fashion and is caused by mutations in the KCNJ2 gene, which ...
Martin Tristani-Firouzi
semanticscholar   +2 more sources

Muscle channelopathies: A review

Annals of the Child Neurology Society, Volume 1, Issue 4, Page 273-288, December 2023., 2023
Abstract Background Muscle channelopathies are a rare and heterogeneous group of disorders that can be clinically challenging and functionally disabling. These disorders can present in both adult and pediatric age groups. These disorders have been known since the turn of the 20th century, with a steady evolution in terms of understanding the ...
Bridget R. McGowan, Abigail N. Schwaede, Lenika De Simone, Vamshi K. Rao   +3 more
wiley   +1 more source

Muscle MRI in periodic paralysis shows myopathy is common and correlates with intramuscular fat accumulation

Muscle &Nerve, Volume 68, Issue 4, Page 439-450, October 2023., 2023
Abstract Introduction/Aims The periodic paralyses are muscle channelopathies: hypokalemic periodic paralysis (CACNA1S and SCN4A variants), hyperkalemic periodic paralysis (SCN4A variants), and Andersen‐Tawil syndrome (KCNJ2). Both episodic weakness and disabling fixed weakness can occur.
Vinojini Vivekanandam, Karen Suetterlin, Emma Matthews, John Thornton, Dipa Jayaseelan, Sachit Shah, Jasper M. Morrow, Tarek Yousry, Michael G. Hanna   +8 more
wiley   +1 more source

Transvenous ICD Implantation into a Coronary Sinus Branch: A Safe and Feasible Alternative to Deliver ICD after Tricuspid Valve Reconstruction

Case Reports in Cardiology, Volume 2023, Issue 1, 2023., 2023
Significant lead‐induced tricuspid regurgitation after cardiovascular implantable electronic devices is not uncommon. Absolute or relative contraindications to place the lead in the right ventricle after tricuspid valve (TV) surgery still remains a challenge.
M. Gruszczynski, A. Müller-Burri, A. Häussler, A. Breitenstein, H. Rodriguez Cetina Biefer, O. Dzemali, Marcio Barros   +6 more
wiley   +1 more source

Bioinformatics characterisation of the (mutated) proteins related to Andersen–Tawil syndrome

Mathematical Biosciences and Engineering, 2019
In the last two decades, a group of proteins whose mutations are associated with a disease manifested by episodes of muscle weakness (periodic paralysis), changes in heart rhythm (arrhythmia), and developmental abnormalities has been under constant study.
Carlos Polanco, Vladimir N. Uversky , Manlio F. Márquez, Thomas Buhse, Alberto Huberman   +4 more
doaj   +1 more source

Inwardly Rectifying Potassium Channel Kir2.1 and its “Kir-ious” Regulation by Protein Trafficking and Roles in Development and Disease

Frontiers in Cell and Developmental Biology, 2022
Potassium (K+) homeostasis is tightly regulated for optimal cell and organismal health. Failure to control potassium balance results in disease, including cardiac arrythmias and developmental disorders.
Natalie A. Hager, Ceara K. McAtee, Mitchell A. Lesko, Allyson F. O’Donnell   +3 more
doaj   +1 more source

European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disorders

European Journal of Neurology, Volume 29, Issue 12, Page 3486-3507, December 2022., 2022
This consensus statement summarizes the most important recommendations concerning anaesthesia in patients with neuromuscular disorders. Abstract Background and purpose Patients with neuromuscular conditions are at increased risk of suffering perioperative complications related to anaesthesia.
Luuk R. van den Bersselaar, Luc Heytens, Helga C. A. Silva, Jens Reimann, Giorgio Tasca, Óscar Díaz‐Cambronero, Nicoline Løkken, Anna Hellblom, Philip M. Hopkins, Henrik Rueffert, Börge Bastian, Juan Jesus Vilchez, Robyn Gillies, Stephan Johannsen, Francis Veyckemans, Tino Muenster, Andrea Klein, Ron Litman, Heinz Jungbluth, Sheila Riazi, Nicol C. Voermans, Marc M. J. Snoeck   +21 more
wiley   +1 more source

Markedly reduced ventricular arrhythmia during the peripartum period in a pregnant woman with Andersen-Tawil syndrome

Journal of Arrhythmia, 2012
Andersen-Tawil syndrome (ATS), also known as long QT syndrome type 7, is a rare autosomal dominant disease caused by a KCNJ2 mutation. The characteristic triad of ATS is periodic paralysis, dysmorphic features, and ventricular arrhythmia.
Chizuko A. Kamiya, Wataru Shimizu, Yoshinari Kabayashi, Takekazu Miyoshi, Chinami Horiuchi, Takashi Umekawa, Kaoru Yamanaka, Reiko Neki, Shinji Katsuragi, Jun Yoshimatsu, Tomoaki Ikeda   +10 more
doaj   +1 more source

COVID‐19 infection and vaccination in patients with skeletal muscle channelopathies

Muscle &Nerve, Volume 66, Issue 5, Page 617-620, November 2022., 2022
Abstract Introduction/Aims Although we have gained insight into coronavirus disease‐2019 (COVID‐19) caused by severe acute respiratory syndrome–coronavirus 2 since the beginning of the pandemic, our understanding of the consequences for patients with neuromuscular disorders is evolving.
Vinojini Vivekanandam, Dipa Jayaseelan, Michael G. Hanna   +2 more
wiley   +1 more source