CLINICAL POLYMORPHISMS AND APPROACHES OF ARRHYTHMIAS TREATMENT IN A FAMILY WITH P.DELKPQ1505-1507 DELETION IN SCN5A GENE

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  • Authors: Saber S.1, Houshmand M.2, Eftekharzadeh M.3, Samiei Nasab M.4, Fazelifar A.F.5, Haghjoo M.5, Zaklyaz'minskaya E.V.6, Gavrilenko A.V.6
  • Affiliations:
    1. Sechenov First Moscow State Medical University, Moscow
    2. National Institute of Genetic Engineering and Biotechnology, Tehran, Iran
    3. Tehran Arrhythmia Clinic, Tehran, Iran
    4. Chamran Heart Hospital, Isfahan University of Medical Sciences, Iran
    5. Shaheed Rajaei Cardiovascular, Medical and Research Center, Tehran
    6. Petrovsky Russian Research Centre of Surgery, Moscow, Russian Federation
  • Issue: Vol 69, No 5-6 (2014)
  • Pages: 52-59
  • Section: CARDIOLOGY: CURRENT ISSUES
  • URL: https://vestnikramn.spr-journal.ru/jour/article/view/429
  • DOI: https://doi.org/10.15690/vramn.v69i5-6.1044
  • Cite item

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. 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.


S. Saber

Sechenov First Moscow State Medical University, Moscow

Author for correspondence.
Email: s_saber2002@yahoo.com

Russian Federation consultant in genetics (cardiovascular genetics), I.M. Sechenov First Moscow State Medical University

M. Houshmand

National Institute of Genetic Engineering and Biotechnology, Tehran, Iran

Email: housh62@yahoo.com

Iran, Islamic Republic of Professor at Cardiac Electrophysiology Research Center, Rajaie Cardiovascular Medical and Research Center,
Iran University of Medical Sciences, Tehran

M. Eftekharzadeh

Tehran Arrhythmia Clinic, Tehran, Iran

Email: eftekhar@Iranep.org

Iran, Islamic Republic of Cardiologist, Electrophysiologist at Tehran Arrhythmia Center, Tehran, Iran. Address: No: 30, Tavanir St.,Vali-Asr Ave.,Tehran, Iran, PO Box: 15175-536

M.R. Samiei Nasab

Chamran Heart Hospital, Isfahan University of Medical Sciences, Iran

Email: samieinasab@med.mui.ac.ir

Iran, Islamic Republic of

Associate Professor at Chamran Heart Hospital, Isfahan University of Medical Sciences, Iran. Address: Bozorgmehr Bolivar, Salmane farsi Street, Chamran Heart Hospital, Isfahan, Iran,

A. F. Fazelifar

Shaheed Rajaei Cardiovascular, Medical and Research Center, Tehran

Email: fazelifar@gmail.com

Iran, Islamic Republic of Associate Professor at Cardiac Electrophysiology Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran. Address: Valie-Asr Street, Tehran, Iran, PO Box: 1996911151

M. Haghjoo

Shaheed Rajaei Cardiovascular, Medical and Research Center, Tehran

Email: Majid.haghjoo@gmail.com

Iran, Islamic Republic of Professor at Cardiac Electrophysiology Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran. Address: Valie-Asr Street, Tehran,Iran, PO Box: 1996911151

E. V. Zaklyaz'minskaya

Petrovsky Russian Research Centre of Surgery, Moscow, Russian Federation

Email: helenezak@gmail.com

Russian Federation Zaklyaz’minskaya Elena Valer’evna, PhD, professor of B.V. Petrovskii Russian Research Center for Surgery. Address: 2, Abrikosovskii line, Moscow, RF, 119991

A. V. Gavrilenko

Petrovsky Russian Research Centre of Surgery, Moscow, Russian Federation

Email: a.v.gavrilenko@mail.ru

Russian Federation PhD, academician of RAS, professor of B.V. Petrovskii Russian Research Center for Surgery.. Address: 2, Abrikosovskii line, Moscow, RF, 119991

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