title: Homozygous SCN5A mutation in Brugada syndrome with monomorphic ventricular tachycardia and structural heart abnormalities.
abstract: OBJECTIVE
  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.
  
  
  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.
  
  
  CONCLUSIONS
  This study provides the first evidence of a homozygous missense mutation in SCN5A associated with atypical ventricular arrhythmias and right structural abnormalities.
authors: Department of Cardio-Thoracic and Vascular Sciences, University of Padua Medical School, Padua, Italy.
authors: Gianfranco
authors: G
authors: Frigo
authors: Alessandra
authors: A
authors: Rampazzo
authors: Barbara
authors: B
authors: Bauce
authors: Kalliopi
authors: K
authors: Pilichou
authors: Giorgia
authors: G
authors: Beffagna
authors: Gian Antonio
authors: GA
authors: Danieli
authors: Andrea
authors: A
authors: Nava
authors: Bortolo
authors: B
authors: Martini
mesh_terms: D000328:Adult; D015415:Biomarkers / Q000032:analysis; D053840:Brugada Syndrome / Q000235:genetics* / Q000503:physiopathology; D017023:Coronary Angiography; D003937:Diagnosis, Differential; D004452:Echocardiography; D004562:Electrocardiography; D005820:Genetic Testing; D005838:Genotype; D006330:Heart Defects, Congenital / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D009124:Muscle Proteins / Q000235:genetics*; D009154:Mutation; D062554:NAV1.5 Voltage-Gated Sodium Channel; D010375:Pedigree; D010641:Phenotype; D015222:Sodium Channels / Q000235:genetics*; D017180:Tachycardia, Ventricular / Q000235:genetics* / Q000503:physiopathology
chemical_list: D015415:Biomarkers; D009124:Muscle Proteins; D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human; D015222:Sodium Channels