Öz
Andersen Tawil syndrome is a rare genetic disorder characterized by cardiac arrhythmias, periodic paralysis and developmental deformities. Cardiac problems are ventricular arrhythmias 84% , long QT syndrome 50% , abnormal TU wave pattern 73% and sudden cardiac arrest 10% . Periodic paralysis commonly occur with hypokalemia and lead to increase in the incidence of cardiac arrhythmias. Physical appearance is typical with hypertelorism, mild bilateral ptosis, low-set ears, hypoplastic mandibula and syndactily
Anahtar Kelimeler
Kaynakça
- Sansone V, Tawil R. Management and treatment of Andersen-Tawil syndrome (ATS). Neurotherapeutics 2007; 4: 233–237.
- Tristani-Firouzi M, Jensen JL, Donaldson MR, Sansone V, Meola G, Hahn A, et al. Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). J Clin Invest 2002; 110: 381–388.
- Zhang L, Benson DW, Tristani-Firouzi M, Ptacek LJ, Tawil R, Schwartz PJ, et al. Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype. Circulation 2005; 111: 2720–2726.
- Venance SL, Cannon SC, Fialho D, Fontaine B, Hanna MG, Ptacek LJ, et al. The primary periodic paralyses: diagnosis,pathogenesis and treatment. Brain 2006; 129: 8–17
- Smith AH, Fish FA, Kannankeril J. Andersen-Tawil syndrome. Indian Pacing and Electrophysiology Journal 2006; 6: 32-43
- Fox D, Klein GJ, Hahn A, Skanes AC, Gula LJ, Yee RK, et al. Reduction of complex ventricular ectopy and improvement in exercise capacity with flecainide therapy in Andersen–Tawil syndrome. EP Europace 2008; 10: 1006–1008
- Platt D, Griggs R. Skeletal Muscle Channelopathies: New insights into the periodicparalyses and nondystrophic myotonias Curr Opin Neurol. 2009; 22(5): 524–531
Öz
Andersen Tawil sendromu kardiyak disritmi, periyodik paralizi ve gelişim deformiteleriyle karakterize olan nadir görülen genetik bir hastalıktır. Sendromda gözlenen kardiyak bulgular ventriküler aritmi %84 , uzun QT sendromu %50 , anormal TU dalga paterni %73 ve ani kardiyak arresttir %10 . Periyodik paraliziler sıklıkla hipokalemide görülmekte ve bu durumda kardiyak aritmi sıklığı artmaktadır. Fiziksel görünümde ise kısa boy, hipertelorizm, hafif bilateral ptosis, düşük kulak seviyesi, protrude alın, hipoplastik mandibula ve sindaktili bildirilmektedir. Bu olgu ile Andersen Tawil sendromu tanısı bilinen bir hastanın rinoplasti ameliyatı sırasındaki anestezi uygulamasını sunmayı amaçladık
Anahtar Kelimeler
Kaynakça
- Sansone V, Tawil R. Management and treatment of Andersen-Tawil syndrome (ATS). Neurotherapeutics 2007; 4: 233–237.
- Tristani-Firouzi M, Jensen JL, Donaldson MR, Sansone V, Meola G, Hahn A, et al. Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). J Clin Invest 2002; 110: 381–388.
- Zhang L, Benson DW, Tristani-Firouzi M, Ptacek LJ, Tawil R, Schwartz PJ, et al. Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype. Circulation 2005; 111: 2720–2726.
- Venance SL, Cannon SC, Fialho D, Fontaine B, Hanna MG, Ptacek LJ, et al. The primary periodic paralyses: diagnosis,pathogenesis and treatment. Brain 2006; 129: 8–17
- Smith AH, Fish FA, Kannankeril J. Andersen-Tawil syndrome. Indian Pacing and Electrophysiology Journal 2006; 6: 32-43
- Fox D, Klein GJ, Hahn A, Skanes AC, Gula LJ, Yee RK, et al. Reduction of complex ventricular ectopy and improvement in exercise capacity with flecainide therapy in Andersen–Tawil syndrome. EP Europace 2008; 10: 1006–1008
- Platt D, Griggs R. Skeletal Muscle Channelopathies: New insights into the periodicparalyses and nondystrophic myotonias Curr Opin Neurol. 2009; 22(5): 524–531
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Case Report |
| Yazarlar | |
| Yayımlanma Tarihi | 1 Aralık 2011 |
| Yayımlandığı Sayı | Yıl 2011Sayı: 4 |