Results 151 to 160 of about 4,944 (184)

Kir 2.1 channelopathies: the Andersen–Tawil syndrome

Pflügers Archiv - European Journal of Physiology, 2010
As a multisystem disorder, Andersen-Tawil syndrome (ATS) is rather unique in the family of channelopathies. The full spectrum of the disease is characterized by ventricular arrhythmias, dysmorphic features, and periodic paralysis. Most ATS patients have a mutation in the ion channel gene, KCNJ2, which encodes the inward rectifier K+ channel Kir2.1, a ...
Martin, Tristani-Firouzi, Susan P, Etheridge   +1 more
openaire   +2 more sources

Case Report of Andersen-Tawil Syndrome: Rare Presentation of a Rare Disease.

Annals of Indian Academy of Neurology
Andersen-Tawil syndrome (ATS) is a rare genetic disorder characterized by a triad of periodic paralysis, cardiac arrhythmias, and dysmorphic features, typically presenting in the first two decades of life.
Himanshu Shakya, Shivangi Bhatnagar, P. Babel, Suman Kushwaha, R. Dhamija   +4 more
semanticscholar   +1 more source

Andersen–Tawil syndrome: Clinical and molecular aspects

International Journal of Cardiology, 2013
Andersen–Tawil syndrome (ATS) is a rare hereditary multisystem disorder. Ventricular arrhythmias, periodic paralysis and dysmorphic features constitute the classic triad of ATS symptoms. The expressivity of these symptoms is, however, extremely variable, even within single ATS affected families, and not all ATS patients present with the full triad of ...
Hoai-Linh, Nguyen, Gerard H, Pieper, Ronald, Wilders   +2 more
openaire   +2 more sources

Andersen-Tawil syndrome

Andersen-Tawil syndrome (ATS) is one of the periodic paralyses, a set of skeletal muscle disorders that cause transient weakness of the arms and legs lasting minutes to many hours. Distinguishing features of ATS include facial and limb dysmorphisms, cardiac arrhythmia, difficulties with executive function, and association with dominant mutations in the
Jill A, Goslinga, Louis J, PtáČek, Rabi, Tawil, Alexander, Fay   +3 more
openaire   +2 more sources

Andersen–Tawil syndrome. A diagnostic challenge

International Journal of Cardiology, 2016
Article history: Received 14 November 2015 Accepted 22 November 2015 Available online 26 November 2015 heart sounds by premature beats with compensatory pause. Holter monitoring reported corrected QT interval of 515 ms, and very frequent VPB (32,231/24 h), with multiple morphologies, couplets, bigeminy, and trigeminy.
Martha Abigaíl Reyes Villatoro, Manlio F. Márquez, Jorge Gómez-Flores, Santiago Nava, Luis Colín, Pedro Iturralde   +5 more
openaire   +1 more source

Distinctive facial features in Andersen–Tawil syndrome: A three‐dimensional stereophotogrammetric analysis

American Journal of Medical Genetics. Part A, 2020
Andersen–Tawil syndrome (ATS) is a rare potassium channelopathy causing periodic paralysis, cardiac arrhythmias, and dysmorphic features. A detailed analysis of the face could facilitate diagnosis of ATS, as approximately 30% of patients do not show ...
C. Dolci, V. Sansone, D. Gibelli, A. Cappella, C. Sforza   +4 more
semanticscholar   +1 more source

Andersen-Tawil and Timothy Syndromes

2013
This chapter summarizes two relatively new ion channelopathies, Andersen-Tawil and Timothy syndromes. Both disorders are pleiotropic in nature, with multiple clinical manifestations outside the cardiovascular system. While both Andersen-Tawil and Timothy syndromes are disorders of ventricular repolarization, their unique clinical phenotype ...
Martin Tristani-Firouzi, Susan P. Etheridge   +1 more
openaire   +1 more source

Perinatal Management of Andersen–Tawil Syndrome Using a Wearable Cardioverter‐Defibrillator: A Case Report

The journal of obstetrics and gynaecology research
Andersen–Tawil syndrome (ATS), also known as congenital long QT syndrome type 7 (LQT7), is a rare inherited channelopathy caused by KCNJ2 mutations and characterized by ventricular arrhythmias, periodic paralysis, and dysmorphic features.
Yuta Sakaguchi, S. Otsuki, Daisuke Izumi, M. Chinushi, Takayuki Inomata   +4 more
semanticscholar   +1 more source

Clinical and neurophysiological variability in Andersen‐Tawil syndrome

Muscle & Nerve, 2019
AbstractIntroductionAndersen‐Tawil syndrome (ATS) is characterized by a triad of periodic paralysis, ventricular arrhythmias, and dysmorphism. However, patients often lack one or more of these features.MethodsClinical and neurophysiological features were reviewed of five members in two families with heterozygous mutations in KCNJ2 (R218Q and R67W ...
Norito, Kokubun, Reika, Aoki, Takahide, Nagashima, Tomoko, Komagamine, Yusuke, Kuroda, Minoru, Horie, Koichi, Hirata   +6 more
openaire   +2 more sources

Therapeutic management of ventricular arrhythmias in Andersen-Tawil syndrome

Journal of Electrocardiology, 2020
Andersen-Tawil Syndrome (ATS) is a rare periodic paralysis with typical skeletal and neuromuscular features. Cardiac involvement may range from asymptomatic ventricular arrhythmias to sudden death. Its management remains challenging and the choice between antiarrhythmic drug therapy and implantable cardioverter defibrillator (ICD) is not simple.
Maffè S, Paffoni P, Bergamasco L, Dellavesa P, Zenone F, Baduena L, Franchetti Pardo N, Careri G, Facchini E, Sansone V, Parravicini U.   +10 more
openaire   +3 more sources