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The SCN5A Mutation A1180V is Associated With Electrocardiographic Features of LQT3 |
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| Authors: | Yanmin Zhang Juanli Wang Suer Chang Nan Zhou Haijian Xing Lei Wang Chen Huang Aiqun Ma Christopher L.-H. Huang Ming Lei James A. Fraser |
| Affiliation: | 1. 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 2. Physiological Laboratory, University of Cambridge, Cambridge, UK 5. Institute of Cardiovascular Science, University of Manchester, Manchester, UK 3. Department of Cardiology, Children’s Hospital of Xi’an, Xi’an, Shaanxi, People’s Republic of China 4. Department of Genetics and Biology/Key Laboratory of Environment and Genes Related to Diseases Ministry of Education, Medical School, Xi’an Jiaotong University, Xi’an, People’s Republic of China 6. Department of Biochemistry, University of Cambridge, Cambridge, UK |
| 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. |
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