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Anderson-tawil syndrome

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https://www.readbyqxmd.com/read/27698745/concomitant-presentation-of-anderson-tawil-syndrome-and-myasthenia-gravis-in-an-adult-patient-a-case-report
#1
Rui Fan, Ruirui Ji, Wenxin Zou, Guoliang Wang, Hu Wang, Daniel James Penney, Jin Jun Luo, Yuxin Fan
Andersen-Tawil syndrome (ATS) is an autosomal dominant, multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias and distinctive dysmorphic facial or skeletal features. The disorder displays marked intrafamilial variability and incomplete penetrance. Myasthenia gravis (MG) is an autoimmune disorder that demonstrates progressive fatigability, in which the nicotinic acetylcholine receptor (AChR) at neuromuscular junctions is the primary autoantigen. The present study reports a rare case of a 31-year-old woman with a history of morbid obesity and periodic weakness, who presented with hemodynamic instability, cardiogenic shock and facial anomalies...
October 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/27479206/bidirectional-ventricular-tachycardia-of-unusual-etiology
#2
Praloy Chakraborty, Bhavna Kaul, Kausik Mandal, H S Isser, Sandeep Bansal, Anandaraja Subramanian
Bidirectional ventricular tachycardia (BDVT) is a rare form of ventricular arrhythmia, characterized by changing QRS axis of 180 degrees. Digitalis toxicity is considered as commonest cause of BDVT; other causes include aconite toxicity, myocarditis, myocardial infarction, metastatic cardiac tumour and cardiac channelopathies. We describe a case of BDVT in a patient with Anderson-Tawil syndrome.
November 2015: Indian Pacing and Electrophysiology Journal
https://www.readbyqxmd.com/read/24932360/genetics-of-long-qt-syndrome
#3
REVIEW
David J Tester, Michael J Ackerman
Long QT syndrome (LQTS) is a potentially life-threatening cardiac arrhythmia characterized by delayed myocardial repolarization that produces QT prolongation and increased risk for torsades des pointes (TdP)-triggered syncope, seizures, and sudden cardiac death (SCD) in an otherwise healthy young individual with a structurally normal heart. Currently, there are three major LQTS genes (KCNQ1, KCNH2, and SCN5A) that account for approximately 75% of the disorder. For the major LQTS genotypes, genotype-phenotype correlations have yielded gene-specific arrhythmogenic triggers, electrocardiogram (ECG) patterns, response to therapies, and intragenic and increasingly mutation-specific risk stratification...
January 2014: Methodist DeBakey Cardiovascular Journal
https://www.readbyqxmd.com/read/20411461/-qtu-pattern-in-a-patient-with-the-anderson-tawil-syndrome
#4
Michał Ciurzyński, Piotr Bienias, Anna Kostera-Pruszczyk, Piotr Pruszczyk
The Andersen-Tawil syndrome (ATS) is an autosomal dominant or sporadic disorder characterised by periodic paralysis, cardiac arrhythmias and dysmorphic features. Mutations in KCNJ2, which encodes the inward rectifier K+ channel Kir2.1 can be found in approximately 70% of ATS cases. The genetic mechanism in the remaining 30% of patients is still unknown. We present ECG of a 19-year-old man with the Andersen-Tawil syndrome. The standard ECG revealed prominent U wave with the ATS TU pattern.
March 2010: Kardiologia Polska
https://www.readbyqxmd.com/read/19682706/type-ii-bidirectional-ventricular-tachycardia-in-a-patient-with-myocardial-infarction
#5
Osman Sonmez, Enes Elvin Gul, Cetin Duman, Mehmet Akif Düzenli, Mehmet Tokaç, Jonni Cooper
A 84-year-old man presented to the emergency department complaining of chest pain and palpitations. He had no history of coronary artery disease. The 12-lead electrocardiography showed bidirectional ventricular tachycardia (BVT). Coronary angiography revealed severe mid left anterior descending and mid left circumflex lesions. The BVT, in this case, was most likely due to myocardial ischema. The ethiology of published BVT cases are most commonly digitalis toxicity and rarely herbal aconitine poisoning, hypokalemic periodic paralysis, cathecolaminergic VT, myocarditis, and Anderson-Tawil syndrome...
November 2009: Journal of Electrocardiology
https://www.readbyqxmd.com/read/19491413/potassium-channels-in-health-disease-development-of-channel-modulators
#6
REVIEW
Selvarajan Sandhiya, Steven Aibor Dkhar
Ion channels present in the plasma membrane and intracellular organelles of all cells, play an important role in maintaining cellular integrity, smooth muscle contraction, secretion of hormones and neurotransmitters. Among the ion channels, potassium channels (K(+)) are the most abundant having important role in cardiac repolarization, smooth muscle relaxation and insulin release. These are also involved in the regulation of physiological functions like gastrointestinal peristalsis. These channels are the most diverse of all ion channels and are coded by at least 75 genes...
March 2009: Indian Journal of Medical Research
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