Andersen–Tawil syndrome: Report of 3 novel mutations and high risk of symptomatic cardiac involvement. Issue 2 (19th November 2014)

• Record Type: Journal Article
• Authors: Kostera‐Pruszczyk, Anna; Potulska‐Chromik, Anna; Pruszczyk, Piotr; Bieganowska, Katarzyna; Miszczak‐Knecht, Maria; Bienias, Piotr; szczałuba, krzysztof; Lee, Hsien‐Yang; Quinn, Emily; Ploski, Rafal; Kaminska, Anna; Ptáček, Louis J.
• Is Part Of: Muscle & nerve. Volume 51:Issue 2(2015:Feb.)
• Page Start: 192
• Page End: 196
• Publication Date: 2014-11-19
• Subjects: Neuromuscular diseases -- Periodicals; Muscles -- Periodicals; Nerves -- Periodicals; 616.74
• DOI: 10.1002/mus.24293
• Languages: English
• ISSNs: 0148-639X

Abstract

<abstract abstract-type="main"> <title>ABSTRACT</title> <p> <italic>Introduction</italic>: Andersen–Tawil syndrome (ATS) is a potassium channelopathy affecting cardiac and skeletal muscle. Periodic paralysis is a presenting symptom in some patients, whereas, in others, symptomatic arrhythmias or prolongation of QT in echocardiographic recordings will lead to diagnosis of ATS. Striking intrafamilial variability of expression of <italic>KCNJ2</italic> mutations and rarity of the syndrome may lead to misdiagnosis. <italic>Methods</italic>: We report 15 patients from 8 Polish families with ATS, including 3 with novel <italic>KCNJ2</italic> mutations. <italic>Results</italic>: All patients had dysmorphic features; periodic paralysis affected males more frequently than females (80% vs. 20%), and most attacks were normokalemic. Two patients (with T75M and T309I mutations) had aborted sudden cardiac death. An implantable cardioverter‐defibrillator was utilized in 40% of cases. <italic>Conclusions</italic>: <italic>KCNJ2</italic> mutations cause a variable phenotype, with dysmorphic features seen in all patients studied, a high penetrance of periodic paralysis in males and ventricular arrhythmia with a risk of sudden cardiac death. Muscle Nerve <bold>51</bold>: 192–196, 2015</p> </abstract>