Results 1 to 10 of about 798 (112)

When the U Wave Tells the Story: Andersen–Tawil Syndrome Unmasked [PDF]

open access: yesAnnals of Noninvasive Electrocardiology
A 26‐year‐old woman with recurrent syncope was diagnosed with Andersen‐Tawil syndrome (ATS) following abnormal electrocardiographic (ECG) findings.
Shasha Yu, Hang Lv
doaj   +3 more sources

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

open access: yesCardiology Research and Practice
Background Andersen–Tawil syndrome (ATS) is a rare inheritable potassium channelopathy, accompanied by ventricular arrhythmias due to long QT intervals, muscle weakness, and dysmorphic features. Next‐generation sequencing can identify the genetic causes of the phenotype. Methods Whole‐exome sequencing (WES) was performed on a 12‐year‐old girl with long
Mansoor Namazi   +5 more
doaj   +3 more sources

Andersen–Tawil Syndrome With Novel Mutation in KCNJ2: Case Report [PDF]

open access: yesFrontiers in Pediatrics, 2022
Andersen–Tawil syndrome (ATS) is a rare autosomal dominant disorder characterized by a classic symptom triad: periodic paralysis, ventricular arrhythmias associated with prolonged QT interval, and dysmorphic skeletal and facial features.
Jisook Yim   +6 more
doaj   +2 more sources

A case report of Andersen-Tawil syndrome misdiagnosed with myodystrophy [PDF]

open access: yesFrontiers in Neurology, 2023
Andersen-Tawil syndrome (ATS) is a rare periodic paralysis caused by the KCNJ2 gene mutation. Here, we report on an ATS patient misdiagnosed with myodystrophy.
Xiuqin Zhao, Hengbing Zu, Kai Yao
doaj   +2 more sources

Case report: Mexiletine suppresses ventricular arrhythmias in Andersen-Tawil syndrome [PDF]

open access: yesFrontiers in Cardiovascular Medicine, 2022
It is arduous to determine clinical solutions for Andersen-Tawil syndrome (ATS) in patients intolerant of β-blocker. Here, we present the case of a 7-year-old boy with periodic paralysis and dysmorphic features who experienced syncope four times during ...
Jing Yang   +7 more
doaj   +2 more sources

Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome [PDF]

open access: yesFrontiers in Genetics, 2021
Andersen-Tawil Syndrome (ATS) is a rare disease defined by the association of cardiac arrhythmias, periodic paralysis and dysmorphic features, and is caused by KCNJ2 loss-of-function mutations.
Pauline Le Tanno   +13 more
doaj   +2 more sources

Mind the Gap: Acetazolamide Prolonged Periods without Paralysis in a Girl with Andersen-Tawil Syndrome [PDF]

open access: yesCase Reports in Neurology, 2021
We present a case report of a 13-year-old girl with Andersen-Tawil Syndrome (ATS), a rare genetic disorder which is characterized by dysmorphic features, ventricular arrhythmias, and frequent episodes of muscle paralysis that interfere with daily ...
Nina Žakelj   +2 more
doaj   +2 more sources

Rare Presentation of Wide QRS Tachycardia in a Patient in Their 40s

open access: yesAnnals of Noninvasive Electrocardiology
This article describes the case of a 40‐year‐old individual who presented with fulminant myocarditis. Initial ECG displayed sinus tachycardia with a heart rate of 117 bpm, QS complexes in leads V1–V3, ST‐segment depression in leads II, III, aVF, V5–V6 ...
Jing‐Xiu Li   +3 more
doaj   +2 more sources

Andersen Tawil syndrome – a case study

open access: yesJournal of Education, Health and Sport, 2021
The first case of a patient with periodic paralysis of muscles accompanied by ventricular arrhythmias was described in 1963 by Klein and colleagues[1]. In 1971, the team led by E.D.
Joanna Mroczek   +2 more
doaj   +1 more source

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

open access: yesIndian 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   +2 more
doaj   +1 more source

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