Flecainide ameliorates arrhythmogenicity through NCX flux in Andersen-Tawil syndrome-iPS cell-derived cardiomyocytes [PDF]
Biochemistry and Biophysics Reports, 2017 Andersen-Tawil syndrome (ATS) is a rare inherited channelopathy. The cardiac phenotype in ATS is typified by a prominent U wave and ventricular arrhythmia. An effective treatment for this disease remains to be established.
Yusuke Kuroda +25 more
doaj +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 +4 more
europepmc +4 more sources
Coincidence of Andersen-Tawil syndrome and Marfan syndrome: A case report. [PDF]
Ann Noninvasive Electrocardiol, 2019 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
Phenotypic Variability of Andersen–Tawil Syndrome Due to Allelic Mutation c.652C>T in the KCNJ2 Gene—A New Family Case Report [PDF]
BiomoleculesAndersen–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
Andersen-Tawil syndrome: visual clues to the diagnosis [PDF]
Arquivos de Neuro-PsiquiatriaJoão Victor Cabral Correia Férrer +5 more
doaj +2 more sources
Ventricular tachyarrhythmias in a patient with Andersen-Tawil syndrome. [PDF]
Korean Circ J, 2013 Andersen-Tawill syndrome (ATS), a rare autosomal dominant disorder, is characterized by periodic paralysis, dysmorphic features and cardiac arrhythmias. This syndrome is caused by mutations of KCNJ2 gene, which encodes inward rectifying potassium channel. Here, we report an 18-year-old girl who was presented with life-threatening cardiac arrhythmia and
Pyo JY +6 more
europepmc +5 more sources
Andersen-Tawil syndrome — Periodic paralysis with dysmorphism
Indian Pediatrics, 2011 Andersen Tawil syndrome is a rare type of channelopathy characterized by the presence of periodic paralysis, cardiac arrhythmia (prolonged QT interval or ventricular arrhythmia) and distinct dysmorphic abnormalities. It is a type of potassium channelopathy that occurs sporadically or by autosomal dominant inheritance.
Mahesh Kamate, Vivek Chetal
exaly +3 more sources
Flecainide for the Treatment of Andersen-Tawil Syndrome
JACC: Clinical ElectrophysiologyAndersen-Tawil syndrome type 1 (ATS1) is a rare arrhythmogenic disorder resulting from loss-of-function mutations in KCNJ2. Although the use of flecainide has been proposed to treat and prevent life-threatening arrhythmic events in ATS1, it has only been tested in small case series with limited follow-up.
Tomer D. Mann +17 more
exaly +3 more sources
Sanger sequencing as a first-line approach for molecular diagnosis of Andersen-Tawil syndrome [version 1; referees: 2 approved] [PDF]
F1000Research, 2017 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]
World J Emerg Med, 2020 Wu L, Fang Y, Zhang BR.
europepmc +4 more sources