Clinical Polymorphisms and Approaches of Arrhythmias Treatment in a Family With Akpq1505-1507 Deletion in Scn5a Gene

Clinical Polymorphisms and Approaches of Arrhythmias Treatment in a Family With Akpq1505-1507 Deletion in Scn5a Gene Publisher Pubmed

Saber S¹ ; Houshmand M² ; Eftekharzadeh M³ ; Nasab MRS⁴ ; Fazelifar AF⁵ ; Haghjoo M⁵ ; Zaklyazminskaya EV^{1, 6} ; Gavrilenko AV^{1, 6}

Show Affiliations

1. I.M. Sechenov First Moscow State Medical University, Moscow, RF, 119991, 8, Trubetskaya, Street, Russian Federation
2. Department of Medical Biotechnology, National Institute of Genetic Engineering and Biotechnology, 161, Tehran, P.O.Box: 14965, Iran
3. Tehran Arrhythmia Center, Tehran, No: 30, Tavanir St., Iran
4. Chamran Heart Hospital, Isfahan University of Medical Sciences, Isfahan, Salmane farsi Street, Iran
5. Cardiac Electrophysiology Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, PO Box: 1996911151, Iran
6. B.V. Petrovskii Russian Research Center for Surgery., Moscow, R F, 119991, 2, Abrikosovskii line, Russian Federation

Source: Vestnik Rossiiskoi Akademii Meditsinskikh Nauk Published:2014

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.

Related Docs

View other Related Docs

1. Genetic Analysis of Cardiac Scn5a Gene in Iranian Patients With Hereditary Cardiac Arrhythmias, Anatolian Journal of Cardiology (2016)

2. Prevalence and Pattern of Brugada Syndrome: A Five-Year Cohort Registry of 4000 Patients, Iranian Heart Journal (2024)

3. Genetic Loci Associated With Heart Rate Variability and Their Effects on Cardiac Disease Risk, Nature Communications (2017)

4. Existence of Mutations in the Homeodomain-Encoding Region of Nkx2.5 Gene in Iranian Patients With Tetralogy of Fallot, Journal of Research in Medical Sciences (2016)

5. Association Study of Polymorphism in Thrombomodulin Gene (Rs1042579) With Cardiovascular Disease, Acta Biomedica (2021)

6. Next-Generation Sequencing Reveals a Novel Pathological Mutation in the Tmc1 Gene Causing Autosomal Recessive Non-Syndromic Hearing Loss in an Iranian Kindred, International Journal of Pediatric Otorhinolaryngology (2019)

7. Determining Genetic Variants in Children and Adolescents Suffering From Tetralogy of Fallot With a Positive Family History: Methodology, Acta Biomedica (2020)

8. A Novel Pathogenic Variant in the Cabp2 Gene Causes Severe Nonsyndromic Hearing Loss in a Consanguineous Iranian Family, Audiology and Neurotology (2019)

Experts (# of related papers)

View all Related Experts

Mohammad Amin Tabatabaiefar (3)

Nizal Sarrafzadegan (1)

Style	Citing Format
MLA	Saber S, et al.. "Clinical Polymorphisms and Approaches of Arrhythmias Treatment in a Family With Akpq1505-1507 Deletion in Scn5a Gene." Vestnik Rossiiskoi Akademii Meditsinskikh Nauk, vol. , no. 5-6, 2014, pp. 52-59.
APA	Saber S, Houshmand M, Eftekharzadeh M, Nasab MRS, Fazelifar AF, Haghjoo M, Zaklyazminskaya EV, Gavrilenko AV (2014). Clinical Polymorphisms and Approaches of Arrhythmias Treatment in a Family With Akpq1505-1507 Deletion in Scn5a Gene. Vestnik Rossiiskoi Akademii Meditsinskikh Nauk, (5-6), 52-59.
Chicago	Saber S, Houshmand M, Eftekharzadeh M, Nasab MRS, Fazelifar AF, Haghjoo M, Zaklyazminskaya EV, Gavrilenko AV. "Clinical Polymorphisms and Approaches of Arrhythmias Treatment in a Family With Akpq1505-1507 Deletion in Scn5a Gene." Vestnik Rossiiskoi Akademii Meditsinskikh Nauk , no. 5-6 (2014): 52-59.
Harvard	Saber S et al. (2014) 'Clinical Polymorphisms and Approaches of Arrhythmias Treatment in a Family With Akpq1505-1507 Deletion in Scn5a Gene', Vestnik Rossiiskoi Akademii Meditsinskikh Nauk, (5-6), pp. 52-59.
Vancouver	Saber S, Houshmand M, Eftekharzadeh M, Nasab MRS, Fazelifar AF, Haghjoo M, et al.. Clinical Polymorphisms and Approaches of Arrhythmias Treatment in a Family With Akpq1505-1507 Deletion in Scn5a Gene. Vestnik Rossiiskoi Akademii Meditsinskikh Nauk. 2014;(5-6):52-59.
BibTex	@article{ author = {Saber S and Houshmand M and Eftekharzadeh M and Nasab MRS and Fazelifar AF and Haghjoo M and Zaklyazminskaya EV and Gavrilenko AV}, title = {Clinical Polymorphisms and Approaches of Arrhythmias Treatment in a Family With Akpq1505-1507 Deletion in Scn5a Gene}, journal = {Vestnik Rossiiskoi Akademii Meditsinskikh Nauk}, volume = {}, number = {5-6}, pages = {52-59}, year = {2014} }
RIS	TY - JOUR AU - Saber S AU - Houshmand M AU - Eftekharzadeh M AU - Nasab MRS AU - Fazelifar AF AU - Haghjoo M AU - Zaklyazminskaya EV AU - Gavrilenko AV TI - Clinical Polymorphisms and Approaches of Arrhythmias Treatment in a Family With Akpq1505-1507 Deletion in Scn5a Gene JO - Vestnik Rossiiskoi Akademii Meditsinskikh Nauk VL - IS - 5-6 SP - 52 EP - 59 PY - 2014 ER -

Science Communicator Platform

Authors

Authors Affiliations

Abstract