Family long QT syndrome type 2 associated with KCNH2 gene mutation: aborted sudden cardiac death
Abstract
A complete screening was performed in a family after one of its members presented with a sudden cardiac death event. A genetic analysis revealed a mutation that led to a long QT syndrome.
References
- Cox KO, Wang BX. Long QT syndrome type 2: mechanism-based therapies. Future Cardiol 2021;17:1453-63.
- Schwartz PJ, Crotti L, Insolia R. Long-QT syndrome: from genetics to management. Circ Arrhythm Electrophysiol 2012;5:868-77.
- Neira V, Enriquez A, Simpson C, et al. Update on long QT syndrome. J Cardiovasc Electrophysiol 2019;30:3068-78.
- Vandenberg JI, Perry MD, Perrin MJ, et al. hERG K(+) channels: structure, function, and clinical significance. Physiol Rev 2012;92:1393-478.
- Schwartz PJ, Priori SG, Spazzolini C, et al. Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation 2001;103:89-95.
- Shah SR, Park K, Alweis R. Long QT syndrome: a comprehensive review of the literature and current evidence. Curr Probl Cardiol 2019;44:92-106.
- Schwartz PJ, Moss AJ, Vincent GM, et al. Diagnostic criteria for the long QT syndrome. An update. Circulation 1993;88:782-4.
- Schwartz PJ, Crotti L. QTc behavior during exercise and genetic testing for the long-QT syndrome. Circulation 2011;124:2181-4.
- Viskin S, Postema PG, Bhuiyan ZA, et al. The response of the QT interval to the brief tachycardia provoked by standing: a bedside test for diagnosing long QT syndrome. J Am Coll Cardiol 2010;55:1955-61.
- Zeppenfeld K, Tfelt-Hansen J, de Riva M, et al. 2022 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death. Eur Heart J 2022;43:3997-4126.
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