Results 31 to 40 of about 851 (125)

Successful cardiac sympathetic denervation for Andersen-Tawil syndrome. [PDF]

Europace, 2023
Krych M, Janisz K, Kuriata J, Kuśmierczyk M, Hoffman P, Biernacka EK.   +5 more
europepmc   +3 more sources

Andersen–Tawil Syndrome [PDF]

Cardiology in Review, 2020
Andersen–Tawil syndrome (ATS) is a very rare orphan genetic multisystem channelopathy without structural heart disease (with rare exceptions). ATS type 1 is inherited in an autosomal dominant fashion and is caused by mutations in the KCNJ2 gene, which encodes the α subunit of the K+ channel protein Kir2.1 (in ≈ 50–60% of cases).
Pérez-Riera, Andrés Ricardo, Barbosa-Barros, Raimundo, Samesina, Nelson, Pastore, Carlos Alberto, Scanavacca, Mauricio, Daminello-Raimundo, Rodrigo, de Abreu, Luiz Carlos, Nikus, Kjell, Brugada, Pedro   +8 more
openaire   +4 more sources

Flecainide treats a novel KCNJ2 mutation associated with Andersen-Tawil syndrome [PDF]

HeartRhythm Case Reports, 2017
Hanora A. Van Ert, BSN, Elise C. McCune, Kate M. Orland, MS, Kathleen R. Maginot, MD, Nicholas H. Von Bergen, MD, Craig T. January, MD, PhD, Lee L. Eckhardt, MD, FHRS   +6 more
doaj   +2 more sources

Phenotypic Variability in a Family with Andersen-Tawil Syndrome. [PDF]

Arq Bras Cardiol
Nascimento SUCND, Duarte JOP, Magalhães LP, Guabiru AT, Santos AS, Cavalvanti E, Rodrigues VB, Aras R.   +7 more
europepmc   +3 more sources

Unlocking the Secrets of Andersen–Tawil Syndrome: The Role of Next-Generation Sequencing in a Family With Long QT Syndrome [PDF]

Cardiology Research and Practice
Mansoor Namazi, Niloofar Naderi, Amir Askarinejad, Mohammad Dalili, Majid Maleki, Samira Kalayinia   +5 more
doaj   +2 more sources

Every face tells a story-unravelling a case of bidirectional ventricular tachycardia

Indian Pacing and Electrophysiology Journal, 2020
Bidirectional ventricular tachycardia is a rare form of tachycardia. We hereby report a case of bidirectional ventricular tachycardia in an 8-year-old boy wherein careful clinical exami-nation led to the diagnosis of Andersen Tawil syndrome.
Sakshi Sachdeva, Saurabh Kumar Gupta, Nitish Naik   +2 more
doaj   +1 more source

Atrial pacing for the management of ventricular arrhythmias in Andersen-Tawil syndrome [PDF]

HeartRhythm Case Reports, 2015
Opeyemi Fadahunsi, MBBS, MPH, Bilal Shaikh, DO, Andrew Rettew, DO, Kyle Bennett, DO, David Scollan, MD, PhD   +4 more
doaj   +2 more sources

Andersen-Tawil syndrome: Overlapping clinical features with Noonan syndrome?

European Journal of Medical Genetics, 2022
Andersen-Tawil syndrome (ATS) and Noonan syndrome (NS) are both autosomal dominantly inherited disorders that share anomalies in the same body systems, i.e. cardiovascular system, skeleton, growth, and face morphology. Here we report a patient meeting clinical diagnostic criteria for NS in whom no variant in one of the genes known to cause NS was found
Werf -'t Lam, A.S. van der, Haeringen, A. van, Rinnen, T., Medina, R.M.R. de, Wilde, A.A.M., Hennekam, R.C., Barge-Schaapveld, D.Q.C.M.   +6 more
openaire   +4 more sources

Child Neurology: Andersen-Tawil syndrome [PDF]

Neurology, 2015
Andersen-Tawil syndrome (ATS) is one of the periodic paralyses. This autosomal dominant disorder was initially named after Andersen, who in 1971 reported the case of a young boy presenting with intermittent muscle weakness, ventricular arrhythmias, and other developmental abnormalities.
Mohammed, Almuqbil, Myriam, Srour
openaire   +2 more sources

Markedly reduced ventricular arrhythmia during the peripartum period in a pregnant woman with Andersen-Tawil syndrome

Journal of Arrhythmia, 2012
Andersen-Tawil syndrome (ATS), also known as long QT syndrome type 7, is a rare autosomal dominant disease caused by a KCNJ2 mutation. The characteristic triad of ATS is periodic paralysis, dysmorphic features, and ventricular arrhythmia.
Chizuko A. Kamiya, Wataru Shimizu, Yoshinari Kabayashi, Takekazu Miyoshi, Chinami Horiuchi, Takashi Umekawa, Kaoru Yamanaka, Reiko Neki, Shinji Katsuragi, Jun Yoshimatsu, Tomoaki Ikeda   +10 more
doaj   +1 more source