Europace Advance Access published online on April 18, 2007
Europace, doi:10.1093/europace/eum053
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Homozygous SCN5A mutation in Brugada syndrome with monomorphic ventricular tachycardia and structural heart abnormalities
1 Department of Cardio-Thoracic and Vascular Sciences, University of Padua Medical School, Padua, Italy; 2 Department of Biology, University of Padua Medical School, Padua, Italy; 3 Cardiovascular Unit, S. Martino Hospital, Belluno, Italy; 4 Cardiovascular Unit, Boldrini Hospital, Thiene, Italy
Aims To describe a patient showing monomorphic ventricular tachycardia, ECG aspect of Brugada syndrome, and structural heart abnormalities due to a homozygous missense mutation in SCN5A.
Methods and results Thirteen subjects (six males, seven females, mean age 46 ± 22 years) belonging to the same family underwent physical examination, basal biochemical marker detection, 12-lead ECG, Holter ECG, signal-averaged ECG, echocardiogram and genetic analysis. The proband underwent a stress test together with left and right ventricular angiography and electrophysiological study. Three subjects (the proband, his mother, and one brother) showed on ECG an ST-segment elevation in the right precordial leads with coved type aspect. Moreover, the proband presented a sustained monomorphic ventricular tachycardia (left bundle branch block aspect with superior axis), whereas all other family members were asymptomatic. Imaging techniques documented right ventricular structural abnormalities only in the proband. Mutation screening in SCN5A gene was performed in the proband and in available family members. The proband carries a novel SCN5A mutation, R814Q, in homozygous, whereas the parents and four siblings were heterozygous carriers of the same mutation.
Conclusion This study provides the first evidence of a homozygous missense mutation in SCN5A associated with atypical ventricular arrhythmias and right structural abnormalities.
Key Words: Brugada syndrome, SCN5A gene, Ventricular tachycardia, Right ventricular abnormalities
* Corresponding author. Tel: +39 049 8762176; fax: +39 049 8762176. E-mail address: andrea.nava{at}unipd.it
Manuscript submitted 7 December 2006. Accepted after revision 5 March 2007.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  C. R. Bezzina and C. A. Remme Dilated Cardiomyopathy due to Sodium Channel Dysfunction: What Is the Connection? Circ Arrhythm Electrophysiol, June 1, 2008; 1(2): 80 - 82. [Full Text] [PDF]
|
|
|
|
|
|
J. Ge, A. Sun, V. Paajanen, S. Wang, C. Su, Z. Yang, Y. Li, S. Wang, J. Jia, K. Wang, et al. Molecular and Clinical Characterization of a Novel SCN5A Mutation Associated With Atrioventricular Block and Dilated Cardiomyopathy Circ Arrhythm Electrophysiol, June 1, 2008; 1(2): 83 - 92. [Abstract] [Full Text] [PDF]
|
|