Andersen Tawil syndrome – a case study
Journal 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
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Indian Pacing and Electrophysiology Journal, 2006 Andersen-Tawil syndrome (ATS) is a rare condition consisting of ventricular arrhythmias, periodic paralysis, and dysmorphic features. In 2001, mutations in KCNJ2, which encodes the α subunit of the potassium channel Kir2.1, were identified in patients ...
Andrew H. Smith +2 more
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Andersen-Tawil syndrome with high-burden ventricular arrhythmias: a case report [PDF]
BMC Cardiovascular DisordersAndersen-Tawil syndrome (ATS) is a rare autosomal dominant genetic disorder. Its main clinical manifestations include severe ventricular arrhythmias (VA), periodic paralysis, and facial and skeletal dysplasia. Due to the lack of awareness of this disease,
Ruiting Feng +6 more
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Case Report of Andersen–Tawil Syndrome: Rare Presentation of a Rare Disease [PDF]
Annals of Indian Academy of NeurologyAndersen–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 +4 more
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Short QT Syndrome or Andersen Syndrome [PDF]
Circulation Research, 2005 See related article, pages 800–807 In 1994, the complete human cDNA of an inwardly rectifying K+ channel gene, KCNJ2 or Kir2.1, was isolated. Kir2.1 channels are important regulators of resting membrane potential of the cardiac (and also skeletal) muscle and cellular excitability,1 since they cause an outflow of K+ in the hyperpolarized membrane ...
Eric Schulze-Bahr
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Multisystemic Assessment in Andersen–Tawil Syndrome: Report of Eighteen Individuals [PDF]
DiagnosticsBackground/Objectives: Andersen–Tawil Syndrome (ATS) is an ultra-rare autosomal dominant condition secondary to deleterious variants in KCNJ2 or KCNJ5 in the majority of patients.
Maria Gnazzo +17 more
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When the U Wave Tells the Story: Andersen–Tawil Syndrome Unmasked [PDF]
Annals of Noninvasive ElectrocardiologyA 26‐year‐old woman with recurrent syncope was diagnosed with Andersen‐Tawil syndrome (ATS) following abnormal electrocardiographic (ECG) findings.
Shasha Yu, Hang Lv
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T‐Cell Acute Lymphoblastic Leukemia in a Young Patient With Andersen–Tawil Syndrome Successfully and Safely Treated With Intensive Chemotherapy Including Potential Precipitating Drugs: A Case Report After 3.5 Years of Follow‐up [PDF]
eJHaemAndersen–Tawil syndrome (ATS) is a rare, hereditary channelopathy characterized by periodic paralysis, cardiac arrhythmias, and sometimes developmental anomalies. No association with hematologic malignancies has previously been reported.
Ramy Rahmé +6 more
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Andersen-Tawil syndrome: visual clues to the diagnosis [PDF]
Arquivos de Neuro-PsiquiatriaJoão Victor Cabral Correia Férrer +5 more
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Andersen-Tawil syndrome — Periodic paralysis with dysmorphism
Indian Pediatrics, 2011 Andersen Tawil syndrome is a rare type of channelopathy characterized by the presence of periodic paralysis, cardiac arrhythmia (prolonged QT interval or ventricular arrhythmia) and distinct dysmorphic abnormalities. It is a type of potassium channelopathy that occurs sporadically or by autosomal dominant inheritance.
Mahesh Kamate, Kamate Mahesh
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