Andersen-Tawil syndrome natural history, complications and prognosis
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
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]
- Syncope or presyncopal attacks
- Exercise-induced nonsustained bidirectional ventricular tachycardia
- QT or QU prolongation with ventricular arrhythmia which are life-threatening
- Sudden cardiac death
Prognosis
- Prognosis is generally excellent/good/poor, and the 1/5/10-year mortality/survival rate of patients with [disease name] is approximately [--]%.
- Depending on the extent of the [tumor/disease progression] at the time of diagnosis, the prognosis may vary. However, the prognosis is generally regarded as poor/good/excellent.
- The presence of [characteristic of disease] is associated with a particularly [good/poor] prognosis among patients with [disease/malignancy].
- [Subtype of disease/malignancy] is associated with the most favorable prognosis.
- The prognosis varies with the [characteristic] of the tumor; [subtype of disease/malignancy] has the most favorable prognosis.
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.