Health Dictionary

Overview

If left untreated, patients with Andersen-Tawil syndrome may progress to develop periodic paralysis, cardiac arrhythmias and can lead to the death of the patient. Common complications of Andersen-Tawil syndrome include neuromuscular symptoms and malignant hyperthermia. Prognosis is generally range from good to poor.

Natural History, Complications, and Prognosis

Natural History

The symptoms of Andersen-Tawil syndrome usually develop in the first decade of life, and start with symptoms such as episodic flaccid muscle weakness, ventricular arrhythmias and prolonged QT interval.^[1]^[2]
If left untreated, patients with Andersen-Tawil syndrome may progress to develop cardiac arrhythmias and can lead to the death of the patient.

Complications

Common complications of Andersen-Tawil syndrome include:^[3]^[4]^[5]^[6]^[7]^[8]
- Syncope or presyncopal attacks
- Exercise-induced nonsustained bidirectional ventricular tachycardia
- QT or QU prolongation with polymorphic ventricular tachycardia which are life-threatening
- Sudden cardiac death
- Neurological or neurocognitive defects

Prognosis

Prognosis is generally range from good to poor, based on the severity of the mutation on KCNJ2 gene.

References

↑ Tawil R, Ptacek LJ, Pavlakis SG, DeVivo DC, Penn AS, Ozdemir C; et al. (1994). “Andersen’s syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features”. Ann Neurol. 35 (3): 326–30. doi:10.1002/ana.410350313. PMID 8080508.
↑ Sansone V, Griggs RC, Meola G, Ptácek LJ, Barohn R, Iannaccone S; et al. (1997). “Andersen’s syndrome: a distinct periodic paralysis”. Ann Neurol. 42 (3): 305–12. doi:10.1002/ana.410420306. PMID 9307251.
↑ Kostera-Pruszczyk A, Potulska-Chromik A, Pruszczyk P, Bieganowska K, Miszczak-Knecht M, Bienias P; et al. (2015). “Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement”. Muscle Nerve. 51 (2): 192–6. doi:10.1002/mus.24293. PMID 24861851.
↑ Fernlund E, Lundin C, Hertervig E, Kongstad O, Alders M, Platonov P (2013). “Novel mutation in the KCNJ2 gene is associated with a malignant arrhythmic phenotype of Andersen-Tawil syndrome”. Ann Noninvasive Electrocardiol. 18 (5): 471–8. doi:10.1111/anec.12074. PMID 24047492.
↑ Haruna Y, Kobori A, Makiyama T, Yoshida H, Akao M, Doi T; et al. (2007). “Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome”. Hum Mutat. 28 (2): 208. doi:10.1002/humu.9483. PMID 17221872.
↑ Peters S, Schulze-Bahr E, Etheridge SP, Tristani-Firouzi M (2007). “Sudden cardiac death in Andersen-Tawil syndrome”. Europace. 9 (3): 162–6. doi:10.1093/europace/eul188. PMID 17272325.
↑ Nguyen HL, Pieper GH, Wilders R (2013). “Andersen-Tawil syndrome: clinical and molecular aspects”. Int J Cardiol. 170 (1): 1–16. doi:10.1016/j.ijcard.2013.10.010. PMID 24383070.
↑ Kukla P, Biernacka EK, Baranchuk A, Jastrzebski M, Jagodzinska M (2014). “Electrocardiogram in Andersen-Tawil syndrome. New electrocardiographic criteria for diagnosis of type-1 Andersen-Tawil syndrome”. Curr Cardiol Rev. 10 (3): 222–8. doi:10.2174/1573403×10666140514102528. PMC 4040873. PMID 24827800.

[pmid8080508-1] Tawil R, Ptacek LJ, Pavlakis SG, DeVivo DC, Penn AS, Ozdemir C; et al. (1994). “Andersen’s syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features”. Ann Neurol. 35 (3): 326–30. doi:10.1002/ana.410350313. PMID 8080508.

[pmid9307251-2] Sansone V, Griggs RC, Meola G, Ptácek LJ, Barohn R, Iannaccone S; et al. (1997). “Andersen’s syndrome: a distinct periodic paralysis”. Ann Neurol. 42 (3): 305–12. doi:10.1002/ana.410420306. PMID 9307251.

[pmid24861851-3] Kostera-Pruszczyk A, Potulska-Chromik A, Pruszczyk P, Bieganowska K, Miszczak-Knecht M, Bienias P; et al. (2015). “Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement”. Muscle Nerve. 51 (2): 192–6. doi:10.1002/mus.24293. PMID 24861851.

[pmid24047492-4] Fernlund E, Lundin C, Hertervig E, Kongstad O, Alders M, Platonov P (2013). “Novel mutation in the KCNJ2 gene is associated with a malignant arrhythmic phenotype of Andersen-Tawil syndrome”. Ann Noninvasive Electrocardiol. 18 (5): 471–8. doi:10.1111/anec.12074. PMID 24047492.

[pmid17221872-5] Haruna Y, Kobori A, Makiyama T, Yoshida H, Akao M, Doi T; et al. (2007). “Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome”. Hum Mutat. 28 (2): 208. doi:10.1002/humu.9483. PMID 17221872.

[pmid17272325-6] Peters S, Schulze-Bahr E, Etheridge SP, Tristani-Firouzi M (2007). “Sudden cardiac death in Andersen-Tawil syndrome”. Europace. 9 (3): 162–6. doi:10.1093/europace/eul188. PMID 17272325.

[pmid24383070-7] Nguyen HL, Pieper GH, Wilders R (2013). “Andersen-Tawil syndrome: clinical and molecular aspects”. Int J Cardiol. 170 (1): 1–16. doi:10.1016/j.ijcard.2013.10.010. PMID 24383070.

[pmid24827800-8] Kukla P, Biernacka EK, Baranchuk A, Jastrzebski M, Jagodzinska M (2014). “Electrocardiogram in Andersen-Tawil syndrome. New electrocardiographic criteria for diagnosis of type-1 Andersen-Tawil syndrome”. Curr Cardiol Rev. 10 (3): 222–8. doi:10.2174/1573403×10666140514102528. PMC 4040873. PMID 24827800.

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