title: The SCN5A mutation A1180V is associated with electrocardiographic features of LQT3.
abstract: Mutations of the SCN5A gene are associated with several arrhythmic syndromes including the Brugada syndrome, conduction disease, long QT syndrome type 3 (LQT3), atrial fibrillation, and dilated cardiomyopathy. We report LQT3 associated with an A1180V cardiac sodium channel mutation, previously associated with cardiac conduction block, and dilated cardiomyopathy in three generations of a Chinese family. Clinical, electrocardiographic (ECG), and echocardiographic examination was followed by direct sequencing of SCN5A and HERG to screen genomic DNA from blood samples. The proband presented with multiple syncopes from the age of 7 years and was found to share a mutation with two other members of his family. Continuous ECG monitoring after presentation showed prolonged QTc and biphasic T waves, multiple episodes of ventricular tachycardia and torsades de pointes. The other two mutation carriers showed ECG features of LQT3 without clinical symptoms. Transthoracic echocardiography showed normal cardiac structure in all three mutation carriers. This study shows LQT3 features associated with an A1180V cardiac sodium channel mutation, expanding the spectrum of phenotypes resulting from this mutation in which biophysical study has shown a persistent late Na(+) current.
authors: Department of Paediatrics, Center of Shaanxi Province Children Cardiovascular Disease, The Shaanxi Provincial People's Hospital, The Third Affiliated Hospital of Xi'an Jiaotong University, Xi'an, People's Republic of China, zhangym@mail.xjtu.edu.cn.
authors: Yanmin
authors: Y
authors: Zhang
authors: Juanli
authors: J
authors: Wang
authors: Suer
authors: S
authors: Chang
authors: Nan
authors: N
authors: Zhou
authors: Haijian
authors: H
authors: Xing
authors: Lei
authors: L
authors: Wang
authors: Chen
authors: C
authors: Huang
authors: Aiqun
authors: A
authors: Ma
authors: Christopher L-H
authors: CL
authors: Huang
authors: Ming
authors: M
authors: Lei
authors: James A
authors: JA
authors: Fraser
mesh_terms: D000075224:Cardiac Conduction System Disease; D002648:Child; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D004452:Echocardiography; D004562:Electrocardiography; D005500:Follow-Up Studies; D006352:Heart Ventricles / Q000000981:diagnostic imaging / Q000503:physiopathology; D006801:Humans; D008133:Long QT Syndrome / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D008297:Male; D009154:Mutation; D062554:NAV1.5 Voltage-Gated Sodium Channel / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree; D010641:Phenotype
chemical_list: D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human; D004247:DNA
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