Brugada Syndrome Caused by a Large Deletion in SCN5A Only Detected by Multiplex Ligation-Dependent Probe Amplification

SCN5A deletion only detected by MLPA. A 14-year-old boy presented with atrial flutter. His ECG showed Brugada changes, first-degree AV block and major sinus pauses. Polymorphic VT was inducible at electrophysiology study. A pacemaker defibrillator was placed. Classic sequencing for SCN5A was normal. Multiplex ligation-dependent probe amplification, however, detected a major deletion in SCN5A. It is predicted that this deletion would result in haploinsufficiency. The report is the first description of a large-scale rearrangement of the SCN5A gene and supports the association between the molecular pathology and the phenotypic expression. (J Cardiovasc Electrophysiol, Vol. 22, pp. 1073-1076, September 2011)