TY - JOUR
T1 - Ventricular tachyarrhythmias in a patient with Andersen-Tawil syndrome
AU - Pyo, Jung Yoon
AU - Joh, Dong Hoo
AU - Park, Jin Su
AU - Lee, Seung Jun
AU - Lee, Hancheol
AU - Kim, Wonjin
AU - Joung, Boyoung
PY - 2013/1
Y1 - 2013/1
N2 - Andersen-Tawil syndrome (ATS), a rare autosomal dominant disorder, is characterized by periodic paralysis, dysmorphic features and cardiac arrhythmias. This syndrome is caused by mutations of KCNJ2 gene, which encodes inward rectifying potassium channel. Here, we report an 18-year-old girl who was presented with life-threatening cardiac arrhythmia and acute respiratory distress. She was diagnosed with ATS, based on dysmorphic features, ventricular arrhythmia, and periodic paralysis. This is the first case to be reported in Korea who experienced a fatal cardiac arrest and respiratory failure caused by ATS.
AB - Andersen-Tawil syndrome (ATS), a rare autosomal dominant disorder, is characterized by periodic paralysis, dysmorphic features and cardiac arrhythmias. This syndrome is caused by mutations of KCNJ2 gene, which encodes inward rectifying potassium channel. Here, we report an 18-year-old girl who was presented with life-threatening cardiac arrhythmia and acute respiratory distress. She was diagnosed with ATS, based on dysmorphic features, ventricular arrhythmia, and periodic paralysis. This is the first case to be reported in Korea who experienced a fatal cardiac arrest and respiratory failure caused by ATS.
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U2 - 10.4070/kcj.2013.43.1.62
DO - 10.4070/kcj.2013.43.1.62
M3 - Article
C2 - 23407770
AN - SCOPUS:84874764036
SN - 1738-5520
VL - 43
SP - 62
EP - 65
JO - Korean Circulation Journal
JF - Korean Circulation Journal
IS - 1
ER -