Results 101 to 110 of about 2,246,673 (121)

New electrocardiographic risk factor for serious cardiac events in Andersen-Tawil syndrome

European Heart Journal
Andersen-Tawil syndrome (ATS, LQTS7) is an ultra-rare channelopathy caused by pathogenic variants in KCNJ2. The disease manifests with a triad of symptoms: ventricular arrhythmia and a prominent U wave in the ECG, dysmorphic features and periodic ...
M. Krych, J. Poninska, I. Kowalik, P. Bienias, A. Filipecki, R. Gajda, P. Kukla, A. Glowniak, M. Pitak, M. Mazij, K. Janisz, M. Lisicka, K. Mizia-Stec, P. Pruszczyk, E. K. Biernacka   +14 more
semanticscholar   +1 more source

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

New genetic risk factor for serious cardiac events in Andersen-Tawil Syndrome - p.Arg71Gln variant in BAG3

European Heart Journal
Andersen-Tawil syndrome (ATS) is an ultrarare channelopathy caused by pathogenic variants in the KCNJ2. It presents with the typical triad of symptoms – U-wave in the ECG and ventricular arrhythmias, periodic paralysis, and dysmorphic features ...
M. Krych, J. Poninska, I. Kowalik, P. Bienias, A. Filipecki, R. Gajda, P. Kukla, A. Glowniak, M. Pitak, M. Mazij, K. Mizia-Stec, P. Pruszczyk, R. Płoski, P. Stawinski, E. K. Biernacka   +14 more
semanticscholar   +1 more source

Abstract 4367328: Mutations in the C-terminal of the KCNJ2 gene increase the odds of sudden cardiac death in Andersen-Tawil Syndrome.

Circulation
Background: Andersen-Tawil Syndrome (ATS) is an autosomal dominant disorder marked by dysmorphic features, periodic paralysis, and ventricular arrhythmias.
Alan Garcia, Richard Salama Frisbie, Abdul Mueez Alam Kayani, R. Lemus-Zamora, T. Fretz, Brijesh Patel   +5 more
semanticscholar   +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

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

Abstract 4147136: Functional Consequences and Phenotypic Manifestations of KCNJ2 Variants in Andersen-Tawil Syndrome

Circulation
Introduction: Andersen-Tawil Syndrome (ATS) is a rare genetic disorder characterized by periodic paralysis, skeletal abnormalities, and elongated QTc.
Cassandra M. Hartle, I. Dinsmore, T. Mirshahi, Jonathan Z. Luo, Robert Mangano, B. Moore   +5 more
semanticscholar   +1 more source

Abstract 4115542: Female patients with Andersen-Tawil Syndrome are more prone to develop cardiac arrest.

Circulation
Background: Andersen-Tawil Syndrome (ATS) is an autosomal dominant disorder characterized by a triad of dysmorphic features, periodic muscular weakness, and ventricular arrhythmias. We presented a meta-analysis of cardiologic-affected ATS patients.
Alan Garcia, R. Lemus-Zamora, Richard Salama Frisbie, Sai Sri Venkata Yeshwanth Damalapati, Abdul Mueez Alam Kayani, Jorge Gomez Flores   +5 more
semanticscholar   +1 more source

Phenotypical variability and atypical presentations in a French cohort of Andersen–Tawil syndrome

European Journal of Neurology, 2022
R. Villar-Quiles, D. Sternberg, G. Tredez, N. Romero, T. Evangelista, P. Laforêt, P. Cintas, G. Solé, S. Sacconi, S. Bendahhou, J. Franques, C. Cances, J. Noury, E. Delmont, P. Blondy, L. Perrin, M. Hezode, E. Fournier, B. Fontaine, T. Stojkovic, S. Vicart   +20 more
semanticscholar   +1 more source