Results 61 to 70 of about 4,944 (184)

Sudden cardiac death in Andersen–Tawil syndrome [PDF]

EP Europace, 2007
Andersen-Tawil syndrome (ATS) is an autosomal dominant or sporadic disorder characterized by periodic paralysis, dysmorphic features, and ventricular arrhythmias. Although ventricular tachycardia burden is quite high sudden cardiac death in ATS is rare.
Stefan, Peters, Eric, Schulze-Bahr, Susan P, Etheridge, Martin, Tristani-Firouzi   +3 more
openaire   +2 more sources

Case report: SCN4A p.R1135H gene variant in combination with thyrotoxicosis causing hypokalemic periodic paralysis

Frontiers in Neurology, 2023
Hypokalemic periodic paralysis (HPP) is a heterogeneous group of diseases characterized by intermittent episodes of delayed paralysis of skeletal muscle with episodes of hypokalemia, caused by variants in CACNA1S or SCN4A genes, or secondary to ...
Zhi Zhang, Banghui Xiao
doaj   +1 more source

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, Ponińska J, Bilińska ZT, Płoski R, Biernacka EK.   +4 more
europepmc   +4 more sources

Congenital Long QT Syndrome: An Update and Present Perspective in Saudi Arabia [PDF]

, 2013
Primary cardiac arrhythmias are often caused by defects, predominantly in the genes responsible for generation of cardiac electrical potential, i.e., cardiac rhythm generation.
Al-Aama, J., Al-Shahrani, S., Bhuiyan, Z.A., Momenah, T.S., Wilde, A.A.M.   +4 more
core   +1 more source

Next-Generation Sequencing in Post-mortem Genetic Testing of Young Sudden Cardiac Death Cases. [PDF]

, 2016
Sudden cardiac death (SCD) in the young (
Ackerman, Ackerman, Ackerman, Anderson, Antzelevitch, Antzelevitch, Bagnall, Basso, Behr, Bellocq, Bezzina, Bezzina, Brugada, Buscemi, Chugh, Creighton, Crotti, Dean, Di Paolo, Elliott, Etheridge, Farrugia, Gaita, Giudicessi, Gladding, Grantham, Gussak, Hayashi, Hedley, Hershberger, Hertz, Hertz, Jabbari, Jefferies, Kapplinger, Lahat, Laitinen, Larsen, Leenhardt, Li, Lodder, Lubitz, MacArthur, Marcus, Maron, Mazzanti, Medeiros-Domingo, Meyer, Miles, Mizusawa, Narula, Neubauer, Neyroud, Nishio, Nunn, Petretta, Plaster, Priori, Priori, Priori, Priori, Probst, Refsgaard, Richard, Richards, Risgaard, Schulze-Bahr, Schwartz, Schwartz, Schwartz, Semsarian, Skinner, Splawski, Stattin, Tester, Tester, Tester, Towbin, van der Werf, van Rijsingen, Ware, Winkel   +81 more
core   +5 more sources

JCS/JHRS 2020 Guideline on Pharmacotherapy of Cardiac Arrhythmias

, 2022
Journal of Arrhythmia, Volume 38, Issue 6, Page 833-973, December 2022.
Katsushige Ono, Yu‐ki Iwasaki, Masaharu Akao, Takanori Ikeda, Kuniaki Ishii, Yasuya Inden, Kengo Kusano, Yoshinori Kobayashi, Yukihiro Koretsune, Tetsuo Sasano, Naokata Sumitomo, Naohiko Takahashi, Shinichi Niwano, Nobuhisa Hagiwara, Ichiro Hisatome, Tetsushi Furukawa, Haruo Honjo, Toru Maruyama, Yuji Murakawa, Masahiro Yasaka, Eiichi Watanabe, Takeshi Aiba, Mari Amino, Hideki Itoh, Hisashi Ogawa, Yasuo Okumura, Chizuko Aoki‐Kamiya, Jun Kishihara, Eitaro Kodani, Takashi Komatsu, Yusuke Sakamoto, Kazuhiro Satomi, Tsuyoshi Shiga, Tetsuji Shinohara, Atsushi Suzuki, Shinya Suzuki, Yukio Sekiguchi, Satoshi Nagase, Noriyuki Hayami, Masahide Harada, Tadashi Fujino, Takeru Makiyama, Mitsunori Maruyama, Junichiro Miake, Shota Muraji, Hiroshige Murata, Norishige Morita, Hisashi Yokoshiki, Koichiro Yoshioka, Kenji Yodogawa, Hiroshi Inoue, Ken Okumura, Takeshi Kimura, Hiroyuki Tsutsui, Wataru Shimizu, the Japanese Circulation Society and, Japanese Heart Rhythm Society Joint Working Group   +56 more
wiley   +1 more source

Identification of the Conformational transition pathway in PIP2 Opening Kir Channels [PDF]

, 2015
The gating of Kir channels depends critically on phosphatidylinositol 4,5-bisphosphate (PIP2), but the detailed mechanism by which PIP2regulates Kir channels remains obscure.
An, Hailong, Chen, Yafei, Li, Junwei, Liu, Yuzhi, Logothetis, Diomedes E., Long, Mian, Lü, Shouqin, Pang, Chunli, Yu, Hui, Zhan, Yong, Zhang, Hailin, Zhang, Suhua   +11 more
core   +5 more sources

Meta-analysis of T peak –T end and T peak –T end /QT ratio for risk stratification in congenital long QT syndrome [PDF]

, 2018
Background and objectives: Congenital long QT syndrome (LQTS) predisposes affected individuals to ventricular tachycardia/fibrillation (VF/VF), potentially resulting in sudden cardiac death.
Baranchuk, Adrian M., Bazoukis, George, Georgopoulos, Stamatis, Gong, Mengqi, Letsas, Konstantinos P., Liu, Tong, Meng, Lei, Tse, Gary, Vassiliou, Vassilios S., Wong, Cheuk Wai, Wong, Martin C.S., Xia, Yunlong, Yan, Gan-Xin   +12 more
core   +1 more source

Management and Treatment of Andersen-Tawil Syndrome (ATS) [PDF]

Neurotherapeutics, 2007
Andersen-Tawil syndrome (ATS) is characterized by periodic paralysis, cardiac arrhythmias, and distinct facial and skeletal features. The majority of patients with ATS (ATS1) have point mutations in the KCNJ2 gene, which encodes the inward-rectifying potassium channel known as Kir2.1.
V. Sansone, R. Tawil
openaire   +3 more sources

Andersen-Tawil Syndrome Presenting with Complete Heart Block [PDF]

, 2021
Andersen-Tawil syndrome (ATS) is a rare autosomal dominant neuromuscular disorder due to mutations in the KCNJ2 gene. The classical phenotype of ATS consists of a triad of periodic paralysis, cardiac conduction abnormalities and dysmorphic features ...
Fialho, D, Flossmann, E, Gossios, TD, Hanna, MG, James, N, Matthews, E, Männikkö, R, Savvatis, K, Sud, R, Suetterlin, K, Vivekanandam, V   +10 more
core