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

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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.

About the authors

S. Saber

Sechenov First Moscow State Medical University, Moscow

Author for correspondence.
Email: s_saber2002@yahoo.com
consultant in genetics (cardiovascular genetics), I.M. Sechenov First Moscow State Medical University Россия

M. Houshmand

National Institute of Genetic Engineering and Biotechnology, Tehran, Iran

Email: housh62@yahoo.com
Professor at Cardiac Electrophysiology Research Center, Rajaie Cardiovascular Medical and Research Center,
Iran University of Medical Sciences, Tehran Иран

M. Eftekharzadeh

Tehran Arrhythmia Clinic, Tehran, Iran

Email: eftekhar@Iranep.org
Cardiologist, Electrophysiologist at Tehran Arrhythmia Center, Tehran, Iran. Address: No: 30, Tavanir St.,Vali-Asr Ave.,Tehran, Iran, PO Box: 15175-536 Иран

M.R. Samiei Nasab

Chamran Heart Hospital, Isfahan University of Medical Sciences, Iran

Email: samieinasab@med.mui.ac.ir

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

Иран

A. F. Fazelifar

Shaheed Rajaei Cardiovascular, Medical and Research Center, Tehran

Email: fazelifar@gmail.com
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 Иран

M. Haghjoo

Shaheed Rajaei Cardiovascular, Medical and Research Center, Tehran

Email: Majid.haghjoo@gmail.com
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 Иран

E. V. Zaklyaz'minskaya

Petrovsky Russian Research Centre of Surgery, Moscow, Russian Federation

Email: helenezak@gmail.com
Zaklyaz’minskaya Elena Valer’evna, PhD, professor of B.V. Petrovskii Russian Research Center for Surgery. Address: 2, Abrikosovskii line, Moscow, RF, 119991 Россия

A. V. Gavrilenko

Petrovsky Russian Research Centre of Surgery, Moscow, Russian Federation

Email: a.v.gavrilenko@mail.ru
PhD, academician of RAS, professor of B.V. Petrovskii Russian Research Center for Surgery.. Address: 2, Abrikosovskii line, Moscow, RF, 119991 Россия

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