Results 41 to 50 of about 4,944 (184)

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: Overlapping clinical features with Noonan syndrome?

European Journal of Medical Genetics, 2022
Andersen-Tawil syndrome (ATS) and Noonan syndrome (NS) are both autosomal dominantly inherited disorders that share anomalies in the same body systems, i.e. cardiovascular system, skeleton, growth, and face morphology. Here we report a patient meeting clinical diagnostic criteria for NS in whom no variant in one of the genes known to cause NS was found
Werf -'t Lam, A.S. van der, Haeringen, A. van, Rinnen, T., Medina, R.M.R. de, Wilde, A.A.M., Hennekam, R.C., Barge-Schaapveld, D.Q.C.M.   +6 more
openaire   +4 more sources

Child Neurology: Andersen-Tawil syndrome [PDF]

Neurology, 2015
Andersen-Tawil syndrome (ATS) is one of the periodic paralyses. This autosomal dominant disorder was initially named after Andersen, who in 1971 reported the case of a young boy presenting with intermittent muscle weakness, ventricular arrhythmias, and other developmental abnormalities.
Mohammed, Almuqbil, Myriam, Srour
openaire   +2 more sources

Electrocardiogram in Andersen-Tawil syndrome. New electrocardiographic criteria for diagnosis of type-1 Andersen-Tawil syndrome. [PDF]

Curr Cardiol Rev, 2014
Andersen - Tawil syndrome (ATS) is an autosomal - dominant or sporadic disorder characterized by ventricular arrhythmias, periodic paralysis, and distinctive facial and skeletal dysmorphism. Mutations in KCNJ2, which encodes the α-subunit of the potassium channel Kir2.1, were identified in patients with ATS.
Kukla P, Biernacka EK, Baranchuk A, Jastrzebski M, Jagodzinska M.   +4 more
europepmc   +4 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

Atrial arrhythmogenicity of KCNJ2 mutations in short QT syndrome: Insights from virtual human atria [PDF]

, 2017
Gain-of-function mutations in KCNJ2-encoded Kir2.1 channels underlie variant 3 (SQT3) of the short QT syndrome, which is associated with atrial fibrillation (AF).
A Bray M-, A Burashnikov, A Burashnikov, A El Harchi, A Loewe, A Lopez-Izquierdo, A Nygren, AA Rodríguez-Menchaca, AJ Workman, Alexander V Panfilov, AS Dhamoon, AS Dhamoon, Aziza El Harchi, CJ Abrams, CJ Calvo, D Dobrev, D Gong, DG Whittaker, Dominic G. Whittaker, DRV Wagoner, E Ambrosini, E Delacrétaz, E Grandi, E Grandi, FH Fenton, G Seemann, GR Mirams, H Zhang, Haibo Ni, Henggui Zhang, I Adeniran, I Adeniran, I Gussak, J Feng, J Ng, JA Nelder, JA Reiffel, JMB Anumonwo, JR Ehrlich, Jules C. Hancox, KC Chang, M Aguilar, M Allessie, M Bechem, M Courtemanche, M Courtemanche, M Deo, M Tristani-Firouzi, M Varela, M Wilhelms, M Xia, MA Allessie, MA Colman, MA Colman, MP Nash, MS Spach, OV Aslanidi, OV Aslanidi, R Lemery, R Morgan, R Schimpf, R Schimpf, RF Bosch, RH Clayton, RH Keldermann, RME Meijer van Putten, S Frea, S Kharche, S Kharche, S Koumi, S Rush, S Sicouri, SF Noujaim, SG Priori, SV Pandit, T Hattori, T-J Cha, VN Biktashev, VV Fedorov, Y-S Lee, Z Wang, Z Wang   +81 more
core   +10 more sources

Child Neurology: Andersen-Tawil syndrome [PDF]

Neurology, 2020
Two images of patients in the article “Child Neurology: Andersen-Tawil syndrome” by Almuqbil and Srour,1 published online March 16, 2015, have been removed because the patients requested that their consent for publication be withdrawn. The removal of the images does not invalidate the paper because an extensive verbal description of the patients was ...
openaire   +2 more sources

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