Andersen-Tawil syndrome

Smith, Andrew H; Fish, Frank A and Kannankeril, Prince J (2006) Andersen-Tawil syndrome. Indian Pacing and Electrophysiology Journal, 6 (1). pp. 32-43. ISSN 0972-6292

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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 with ATS. To date, KCNJ2 is the only gene implicated in ATS, accounting for approximately 60% of cases. ATS is a unique channelopathy, and represents the first link between cardiac and skeletal muscle excitability. The arrhythmias observed in ATS are distinctive; patients may be asymptomatic, or minimally symptomatic despite a high arrhythmia burden with frequent ventricular ectopy and bidirectional ventricular tachycardia. However, patients remain at risk for life-threatening arrhythmias, including torsades de pointes and ventricular fibrillation, albeit less commonly than observed in other genetic arrhythmia syndromes. The characteristic heterogeneity at both the genotypic and phenotypic levels contribute to the continued difficulties with appropriate diagnosis, risk stratification, and effective therapy. The initial recognition of a syndromic association of clinically diverse symptoms, and the subsequent identification of the underlying molecular genetic basis of ATS has enhanced both clinical care, and our understanding of the critical function of Kir2.1 on skeletal muscle excitability and cardiac action potential.

EPrint Type:Article
Uncontrolled Keywords:Arrhythmias; Genetics; Ion Channels; Andersen-Tawil syndrome
Subjects:Inorganic Chemicals > Electrolytes > Ions
Cardiovascular Diseases > Heart Diseases > Arrhythmia > Long QT Syndrome
Cardiovascular Diseases > Heart Diseases > Arrhythmia > Atrial Fibrillation
-Journal Repositories > Indian Pacing and Electrophysiology Journal
Musculoskeletal Diseases > Muscular Diseases > Paralyses, Familial Periodic
Pathological Conditions, Signs and Symptoms > Pathologic Processes > Arrhythmia
ID Code:1251
Deposited By:Indian Pacing and Electrophysiology Journal
Deposited On:05 January 2006

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