Korean Circ J.  2013 Jan;43(1):62-65. 10.4070/kcj.2013.43.1.62.

Ventricular Tachyarrhythmias in a Patient with Andersen-Tawil Syndrome

• Pyo JY
• Joh DH
• Park JS
• Lee SJ
• Lee H
• Kim W
• Joung B

• KMID: 1723004
• DOI: http://doi.org/10.4070/kcj.2013.43.1.62

Abstract

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.

Keyword

Andersen-Tawil syndrome; Ventricular tachycardia; Paralysis

MeSH Terms

Andersen Syndrome
Arrhythmias, Cardiac
Heart Arrest
Humans
Korea
Paralysis
Potassium Channels
Respiratory Insufficiency
Tachycardia
Tachycardia, Ventricular
Potassium Channels

Figure

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  Fig. 1 Characteristic deformity of hand. A: patient's right fifth finger showing clinodactyly (arrow). B: patient mother's left fifth finger also showing clinodactyly (arrow).

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  Fig. 2 Initial 12 lead electrocardiogram. Ventricular bigeminy with two different morphologies of QRS, along with long QT interval.

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  Fig. 3 The 12 lead electrocardiogram of tachycardia. The wide QRS tachycardia was changed to narrow QRS tachycardia (arrow). After the termination of narrow QRS tachycardia, wide QRS tachycardia started. ECG: electrocardiogram.

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  Fig. 4 The 12 lead ECG without wide QRS tachycardia. This ECG shows prolonged QT interval with prominent U wave. And some premature ventricular contractions are presented at the end of T wave, consistent with R on T phenomenon. ECG: electrocardiogram.

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