[Clinical polymorphisms and approaches of arrhythmias treatment in a family with δKPQ1505-1507 deletion in SCN5A gene]
| Autor: | A. V. Gavrilenko, Massoud Houshmand, M Eftekhharzadeh, Nasab Samiei, Amirfarjam Fazelifar, E V Zakliaz'minskaia, Siamak Saber, Majid Haghjoo |
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| Rok vydání: | 2015 |
| Předmět: |
Adult
Male medicine.medical_specialty Scn5a gene medicine.medical_treatment Electric Countershock Bioinformatics Risk Assessment Sudden cardiac death NAV1.5 Voltage-Gated Sodium Channel symbols.namesake Electrocardiography Internal medicine medicine Humans Genetic Predisposition to Disease Genetic Association Studies Brugada syndrome Brugada Syndrome Sanger sequencing Polymorphism Genetic business.industry General Medicine Middle Aged medicine.disease Implantable cardioverter-defibrillator Phenotype Defibrillators Implantable Pedigree Long QT Syndrome Death Sudden Cardiac Mutation (genetic algorithm) Mutation symbols Cardiology Female business Anti-Arrhythmia Agents Blood drawing |
| Zdroj: | Vestnik Rossiiskoi akademii meditsinskikh nauk. (5-6) |
| ISSN: | 0869-6047 |
| Popis: | 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. Patients and 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. Conclusion : 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. |
| Databáze: | OpenAIRE |
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