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Andersen–Tawil syndrome: Report of 3 novel mutations and high risk of symptomatic cardiac involvement
Author(s) -
KosteraPruszczyk Anna,
PotulskaChromik Anna,
Pruszczyk Piotr,
Bieganowska Katarzyna,
MiszczakKnecht Maria,
Bienias Piotr,
szczałuba krzysztof,
Lee HsienYang,
Quinn Emily,
Ploski Rafal,
Kaminska Anna,
Ptáček Louis J.
Publication year - 2015
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.24293
Subject(s) - periodic paralysis , channelopathy , penetrance , medicine , sudden cardiac death , short qt syndrome , long qt syndrome , cardiology , paralysis , atrial fibrillation , qt interval , pediatrics , phenotype , surgery , genetics , biology , gene
: 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 KCNJ2 mutations and rarity of the syndrome may lead to misdiagnosis. Methods : We report 15 patients from 8 Polish families with ATS, including 3 with novel KCNJ2 mutations. Results : 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. Conclusions : KCNJ2 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 51 : 192–196, 2015