Annals of the Russian academy of medical sciencesAnnals of the Russian academy of medical sciencesВестник Российской академии медицинских наук0869-60472414-3545"Paediatrician" Publishers LLC42910.15690/vramn.v69i5-6.1044CARDIOLOGY: CURRENT ISSUESАКТУАЛЬНЫЕ ВОПРОСЫ КАРДИОЛОГИИCLINICAL POLYMORPHISMS AND APPROACHES OF ARRHYTHMIAS TREATMENT IN A FAMILY WITH P.DELKPQ1505-1507 DELETION IN SCN5A GENEКЛИНИЧЕСКИЙ ПОЛИМОРФИЗМ И ПОДХОДЫ К ЛЕЧЕНИЮ НАРУШЕНИЙ РИТМА СЕРДЦА В СЕМЬЕ С ДЕЛЕЦИЕЙ P.DELKPQ1505-1507 В ГЕНЕ SCN5ASaberS.СаберС.
Russian Federation

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

консультант по генетике (сердечно-сосу дистая генетика), Первый МГМУ им. И.М. Сеченова

s_saber2002@yahoo.comHoushmandM.HoushmandМ.
Iran, Islamic Republic of

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

housh62@yahoo.comEftekharzadehM.EftekharzadehМ.
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

eftekhar@Iranep.orgSamiei NasabM.R.Samiei NasabM. R.
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,

samieinasab@med.mui.ac.irFazelifarA. F.
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

fazelifar@gmail.comHaghjooM.
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

Majid.haghjoo@gmail.comZaklyaz'minskayaE. V.ЗаклязьминскаяЕ. В.
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

helenezak@gmail.comGavrilenkoA. V.ГавриленкоА. В.
Russian Federation

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

a.v.gavrilenko@mail.ruSechenov First Moscow State Medical University, MoscowПервый МГМУ им. И.М. СеченоваNational Institute of Genetic Engineering and Biotechnology, Tehran, IranНациональный институт генной инженерии и биотехнологии, Тегеран, ИранTehran Arrhythmia Clinic, Tehran, IranКлиника Аритмии, Тегеран, ИранChamran Heart Hospital, Isfahan University of Medical Sciences, IranChamran Heart Hospital, Университет медицинских наук, Исфахан, ИранShaheed Rajaei Cardiovascular, Medical and Research Center, TehranPetrovsky Russian Research Centre of Surgery, Moscow, Russian FederationРоссийский научный центр хирургии им. акад Б.В. Петровского, Москва, Рoссийская Федерация01102014695-6Vestnik Rossiiskoi akademii medetsinskikh nauk / Annals of the Russian academy of medical sciencesВестник Российской академии медицинских наук525907082015Copyright ©; 1970, "Paediatrician" Publishers LLCCopyright ©; 1970, Издательство "Педиатръ"1970"Paediatrician" Publishers LLCИздательство "Педиатръ"https://vestnikramn.spr-journal.ru/jour/about/submissionshttps://vestnikramn.spr-journal.ru/jour/article/view/429

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.

Цель исследования: изучить спектр клинических проявлений и ответов на лечение в большой семье с нарушениями ритма, обусловленными p.delKPQ1505-1507 в гене SCN5A. Пациенты и методы: были обследованы 18 членов большой иранской семьи, имеющие различные комбинации наследственных нарушений ритма сердца. Членам семьи было проведено полное кардиологическое обследование, медико-генетическое консультирование, а также были получены образцы венозной крови для выполнения молекулярно-генетического исследования. Поиск мутаций в гене SCN5A был осуществлен методом прямого секвенирования по Сенгеру. Результаты: в иранской семье была выявлена известная мутация (p.delKPQ 1505-1507) в гене SCN5A. Интересно, что среди членов семьи-носителей этой мутации присутствовали больные как с LQ–TS, так и с синдромом Бругада. Выводы: перекрывание фенотипов, связанных с высоким риском внезапной сердечной смерти, может потребовать комплексного подхода к антиаритмической терапии, хирургическому лечению и профилактике внезапной сердечной смерти в этой семье.

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