Lack of any cardiac involvement in a patient with Andersen-Tawil syndrome associated with the c.574A→G mutation in KCNJ2

Cardiology

Volumn 120, Issue 4, 2012, Pages 200-203

  Modoni, Anna ^a   Bianchi, Maria Laura Ester ^a   Vitulano, Nicola ^a   Pagliarani, Serena ^b   Perna, Francesco ^a   Sanna, Tommaso ^a   Rizzo, Valentina ^a   Silvestri, Gabriella ^a  

^a CATHOLIC UNIVERSITY   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

Author keywords

Andersen Tawil syndrome; Cardiac involvement; KCNJ2

Indexed keywords

ACETAZOLAMIDE; ADENINE; GUANINE; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR2.1; POTASSIUM;

ADULT; ANDERSEN SYNDROME; ARTICLE; CARDIAC PATIENT; CARDIOVASCULAR SYSTEM EXAMINATION; CASE REPORT; ELECTROMYOGRAPHY; EXERCISE; FACE DYSMORPHIA; GENE MUTATION; GENETIC ASSOCIATION; HEART ARRHYTHMIA; HEART PALPITATION; HUMAN; ITALY; JAPANESE; LIMB WEAKNESS; MALE; MUSCLE HYPERTROPHY; MYOPATHY; NON INVASIVE PROCEDURE; PARALYSIS; PERIODIC PARALYSIS; PHENOTYPE; POTASSIUM BLOOD LEVEL; PRIORITY JOURNAL; STERNOCLEIDOMASTOID MUSCLE;

ADULT; ANDERSEN SYNDROME; ARRHYTHMIAS, CARDIAC; ELECTROCARDIOGRAPHY; HUMANS; MALE; MUTATION; PENETRANCE; POTASSIUM CHANNELS, INWARDLY RECTIFYING;

EID: 84856170878     PISSN: 00086312     EISSN: 14219751     Source Type: Journal    
DOI: 10.1159/000335529     Document Type: Article

References (12)

1. Andersen DE, Krasilnikoff PA, Overvad H: Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies: a new syndrome? Acta Paediatr Scand 1971; 60: 559-564.
2. Tawil R, Ptacek LJ, Pavlakis SG, De Vivo DC, Penn AS, Ozsdemir C, Griggs RC: Andersen syndrome: potassium sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. Ann Neurol 1994; 35: 326-330.
3. Sansone V, Griggs RC, Meola G, Ptacek LJ, Barohn R, Iannaccone S, Bryan W, Baker N, Janas SJ, Scott W, Ririe D, Tawil R: Andersen's syndrome: a distinct periodic paralysis. Ann Neurol 1997; 42: 305-312. (Pubitemid 27391113)
4. Venance SL, Cannon SC, Fialho D, Fontaine B, Hanna MG, Ptacek LJ, Tristani-Firouzi M, Tawil R, Griggs RC, CINCH investigators: The primary periodic paralyses: diagnosis, pathogenesis and treatment. Brain 2006; 129: 8-17. (Pubitemid 43063755)
5. Plaster NM, Tawil R, Tristani-Firouzi M, Canún S, Bendahhou S, Tsunoda A, Donaldson MR, Iannaccone ST, Brunt E, Barohn R, Clark J, Deymeer F, George AL Jr, Fish FA, Hahn A, Nitu A, Ozdemir C, Serdaroglu P, Subramony SH, Wolfe G, Fu YH, Ptácek LJ: Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell 2001; 105: 511-519. (Pubitemid 32520856)
6. Donaldson MR, Yoon G, Fu YH, Ptacek LJ: Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity. Ann Med 2004;(suppl 1): 92-97. (Pubitemid 38669930)
7. Tristani-Firouzi M, Etheridge SP: Kir 2.1 channelopathies: the Andersen-Tawil syndrome. Pflugers Arch 2010; 460: 289-294.
8. Zhang L, Woodrow Benson D, Tristani-Firouzi M, Ptacek LJ, Tawil R, Schwartz PJ, George Al L, Horie M, Andelfinger G, Snow GL, Fu Y-H, Ackerman MJ, Vincent GM: Electrocardiographic features in Andersen- Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype. Circulation 2005; 111: 2720-2726. (Pubitemid 40791541)
9. Haruna Y, Kobori A, Makiyama T, Yoshida H, Akao M, Doi T, Tsuji K, Ono S, Nishio Y, Shimizu W, Inoue T, Murakami T, Tsuboi N, Yamanouchi H, Ushinohama H, Nakamura Y, Yoshinaga M, Horigome H, Aizawa Y, Kita T, Horie M: Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome. Hum Mutat 2007; 28: 208.
10. Yoon G, Oberoi S, Tristani-Firouzi M, Etheridge SP, Quitania L, Kramer JH, Miller BL, Fu YH, Ptacek LJ: Andersen-Tawil syndrome: prospective cohort analysis and expansion of the phenotype. Am J Med Genet 2006; 140: 312-321. (Pubitemid 43227644)
11. Davies NP, Imbrici P, Fialho D, Herd C, Bilsland LG, Weber A, Mueller R, Hilton- Jones D, Ealing J, Boothman BR, Giunti P, Parsons LM, Thomas M, Manzur AY, Jurkat- Rott K, Lehmann-Horn F, Chinnery PF, Rose M, Kullmann DM, Hanna MG: Andersen- Tawil syndrome: new potassium channel mutations and possible phenotypic variation. Neurology 2005; 65: 1083-1089.
12. Ai T, Fujiwara Y, Tsuji K, Otani H, Nakano S, Kubo Y, Horie M: Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia. Circulation 2002; 105: 2592-2594. (Pubitemid 34596033)