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Ventricular tachyarrhythmias in a patient with Andersen-Tawil syndrome.

Pyo JY, Joh DH, Park JS, Lee SJ, Lee H, Kim W, Joung B - Korean Circ J (2013)

Bottom Line: Andersen-Tawill syndrome (ATS), a rare autosomal dominant disorder, is characterized by periodic paralysis, dysmorphic features and cardiac arrhythmias.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.

View Article: PubMed Central - PubMed

Affiliation: Division of Cardiology, Department of Internal Medicine, Yonsei University College of Medicine, Seoul, Korea.

ABSTRACT
Andersen-Tawill 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.

No MeSH data available.


Related in: MedlinePlus

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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Figure 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).

Mentions: When she arrived at our hospital, she was semicomatous. She showed frequent episodes of tachycardia with the heart rate of 200 beats per minutes. She had a short stature as 149 cm (1.5% percentile for her age), broad forehead, small jaw, and clinodactyly on the right fifth finger (Fig. 1A). Interestingly, her mother also had clinodactyly on both fifth fingers (Fig. 1B). However, there was no family history of cardiac disease. The initial neurologic exam revealed grade 0 strength of both lower and upper extremities. Deep tendon reflexes were absent on biceps, triceps, brachioradialis, knee and ankle.


Ventricular tachyarrhythmias in a patient with Andersen-Tawil syndrome.

Pyo JY, Joh DH, Park JS, Lee SJ, Lee H, Kim W, Joung B - Korean Circ J (2013)

Characteristic deformity of hand. A: patient's right fifth finger showing clinodactyly (arrow). B: patient mother's left fifth finger also showing clinodactyly (arrow).
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3569570&req=5

Figure 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).
Mentions: When she arrived at our hospital, she was semicomatous. She showed frequent episodes of tachycardia with the heart rate of 200 beats per minutes. She had a short stature as 149 cm (1.5% percentile for her age), broad forehead, small jaw, and clinodactyly on the right fifth finger (Fig. 1A). Interestingly, her mother also had clinodactyly on both fifth fingers (Fig. 1B). However, there was no family history of cardiac disease. The initial neurologic exam revealed grade 0 strength of both lower and upper extremities. Deep tendon reflexes were absent on biceps, triceps, brachioradialis, knee and ankle.

Bottom Line: Andersen-Tawill syndrome (ATS), a rare autosomal dominant disorder, is characterized by periodic paralysis, dysmorphic features and cardiac arrhythmias.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.

View Article: PubMed Central - PubMed

Affiliation: Division of Cardiology, Department of Internal Medicine, Yonsei University College of Medicine, Seoul, Korea.

ABSTRACT
Andersen-Tawill 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.

No MeSH data available.


Related in: MedlinePlus