title: [Clinical polymorphisms and approaches of arrhythmias treatment in a family with δKPQ1505-1507 deletion in SCN5A gene].
abstract: BACKGROUND
  The aim of the study was to analyze spectrum of manifestation and treatment response in large family with rhythm disturbances caused by p.delKPQ1505-1507 mutation in SCN5A gene.
  
  
  METHODS
  We had under our observation 18 members of large Iranian family with various combination of inherited arrhythmic syndromes. Careful cardiological examination, genetic councelling and venous blood sampling for molecular genetic study were performed for family members. Mutation screening in SCN5A gene was performed using bidirectional Sanger sequencing.
  
  
  RESULTS
  Here by we show the observation of Iranian family with known mutation p.delKPQ 1505-1507 in SCN5A gene, who display not only LQ-TS phenotype but also some of the carriers of this mutation have had LQ-TS and Brugada syndrome (combine phenotype), interestingly.
  
  
  CONCLUSIONS
  The overlapping phenotype associated with high risk of sudden cardiac death may require complex approaches to antiarrhythmic therapy, surgical treatment and prevention of sudden cardiac death in the family.
authors.forename: S
authors.initials: S
authors.lastname: Saber
authors.forename: M
authors.initials: M
authors.lastname: Houshmand
authors.forename: M
authors.initials: M
authors.lastname: Eftekhharzadeh
authors.forename: Nasab
authors.initials: N
authors.lastname: Samiei
authors.forename: A F
authors.initials: AF
authors.lastname: Fazelifar
authors.forename: M
authors.initials: M
authors.lastname: Haghjoo
authors.forename: E V
authors.initials: EV
authors.lastname: Zakliaz'minskaia
authors.forename: A V
authors.initials: AV
authors.lastname: Gavrilenko
mesh_terms: D000328:Adult; D000889:Anti-Arrhythmia Agents / Q000627:therapeutic use*; D053840:Brugada Syndrome / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D016757:Death, Sudden, Cardiac / Q000517:prevention & control*; D017147:Defibrillators, Implantable; D004554:Electric Countershock / Q000295:instrumentation / Q000379:methods; D004562:Electrocardiography / Q000379:methods; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008133:Long QT Syndrome / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D008297:Male; D008875:Middle Aged; D009154:Mutation; D062554:NAV1.5 Voltage-Gated Sodium Channel / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic; D018570:Risk Assessment
chemical_list: D000889:Anti-Arrhythmia Agents; D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human