Electrocardiogram in Andersen-Tawil syndrome. New electrocardiographic criteria for diagnosis of type-1 Andersen-Tawil syndrome. [PDF]
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 +4 more
europepmc +4 more sources
Multivariate analysis of TU wave complex on electrocardiogram in Andersen-Tawil syndrome with KCNJ2 mutations. [PDF]
journal ...
Horigome H +10 more
europepmc +3 more sources
Phenotypic variability in a series of four pediatric patients with Andersen-Tawil syndrome: A Saudi experience [PDF]
Andersen-Tawil syndrome (ATS) is a rare genetic disorder characterized by periodic paralysis, ventricular arrhythmia, and dysmorphic features. However, the classical features are not always seen in the syndrome; therefore, the diagnosis can be ...
Norah A. Alrashed +3 more
doaj +2 more sources
Phenotypic Variability of Andersen–Tawil Syndrome Due to Allelic Mutation c.652C>T in the KCNJ2 Gene—A New Family Case Report [PDF]
Andersen–Tawil syndrome (ATS) is a multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, prolonged QT interval, and facial dysmorphisms occurring in the first/second decade of life.
Maria Elena Onore +5 more
doaj +2 more sources
Extracellular Kir2.1<sup>C122Y</sup> Mutant Upsets Kir2.1-PIP<sub>2</sub> Bonds and Is Arrhythmogenic in Andersen-Tawil Syndrome. [PDF]
BACKGROUND: Andersen-Tawil syndrome type 1 is a rare heritable disease caused by mutations in the gene coding the strong inwardly rectifying K channel Kir2.1.
Cruz FM +18 more
europepmc +6 more sources
Successful cardiac sympathetic denervation for Andersen-Tawil syndrome. [PDF]
Krych M +5 more
europepmc +3 more sources
Coincidence of Andersen-Tawil syndrome and Marfan syndrome: A case report. [PDF]
AbstractWe report on a 44‐year‐old woman with coincidence of two genetic disorders: Andersen–Tawil syndrome and Marfan syndrome. In both, life‐threatening arrhythmias could occur. A 44‐year‐old woman presented acute ascending aortic dissection with aortic arch involvement and chronic thoracic descending and abdominal aortic dissection.
Krych M +4 more
europepmc +4 more sources
Sanger sequencing as a first-line approach for molecular diagnosis of Andersen-Tawil syndrome [version 1; referees: 2 approved] [PDF]
In 1977, Frederick Sanger developed a new method for DNA sequencing based on the chain termination method, now known as the Sanger sequencing method (SSM).
Armando Totomoch-Serra +2 more
doaj +2 more sources
Andersen-Tawil syndrome associated with myopathy. [PDF]
Wu L, Fang Y, Zhang BR.
europepmc +4 more sources
Rare Presentation of Wide QRS Tachycardia in a Patient in Their 40s
This article describes the case of a 40‐year‐old individual who presented with fulminant myocarditis. Initial ECG displayed sinus tachycardia with a heart rate of 117 bpm, QS complexes in leads V1–V3, ST‐segment depression in leads II, III, aVF, V5–V6 ...
Jing‐Xiu Li +3 more
doaj +2 more sources

