Personalized approach in arrhythmology by genetic-based data: a case report.

التفاصيل البيبلوغرافية
العنوان:	Personalized approach in arrhythmology by genetic-based data: a case report.
المؤلفون:	Blokhina AV; National Medical Research Center for Therapy & Preventive Medicine, Petroverigsky lane, 10/3, Moscow, 101990, Russia., Ershova AI; National Medical Research Center for Therapy & Preventive Medicine, Petroverigsky lane, 10/3, Moscow, 101990, Russia., Zyatenkova EV; National Medical Research Center for Therapy & Preventive Medicine, Petroverigsky lane, 10/3, Moscow, 101990, Russia., Meshkov AN; National Medical Research Center for Therapy & Preventive Medicine, Petroverigsky lane, 10/3, Moscow, 101990, Russia., Kiseleva AV; National Medical Research Center for Therapy & Preventive Medicine, Petroverigsky lane, 10/3, Moscow, 101990, Russia., Klimushina MV; National Medical Research Center for Therapy & Preventive Medicine, Petroverigsky lane, 10/3, Moscow, 101990, Russia., Sotnikova EA; National Medical Research Center for Therapy & Preventive Medicine, Petroverigsky lane, 10/3, Moscow, 101990, Russia., Skirko OP; National Medical Research Center for Therapy & Preventive Medicine, Petroverigsky lane, 10/3, Moscow, 101990, Russia., Zharikova AA; National Medical Research Center for Therapy & Preventive Medicine, Petroverigsky lane, 10/3, Moscow, 101990, Russia.; Faculty of Bioengineering & Bioinformatics, Leninskie Gory, 1-73, Moscow, 119991, Russia., Doludin YV; National Medical Research Center for Therapy & Preventive Medicine, Petroverigsky lane, 10/3, Moscow, 101990, Russia., Kharlap MS; National Medical Research Center for Therapy & Preventive Medicine, Petroverigsky lane, 10/3, Moscow, 101990, Russia., Drapkina OM; National Medical Research Center for Therapy & Preventive Medicine, Petroverigsky lane, 10/3, Moscow, 101990, Russia.
المصدر:	Personalized medicine [Per Med] 2022 Mar; Vol. 19 (2), pp. 83-91. Date of Electronic Publication: 2022 Jan 21.
نوع المنشور:	Case Reports; Journal Article; Research Support, Non-U.S. Gov't
اللغة:	English
بيانات الدورية:	Publisher: Future Medicine Country of Publication: England NLM ID: 101238549 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-828X (Electronic) Linking ISSN: 17410541 NLM ISO Abbreviation: Per Med Subsets: MEDLINE
أسماء مطبوعة:	Original Publication: London : Future Medicine, c2004-
مواضيع طبية MeSH:	Brugada Syndrome/complications , Brugada Syndrome/diagnosis , Brugada Syndrome/genetics , Channelopathies/diagnosis , Channelopathies/genetics , Channelopathies/therapy , Long QT Syndrome/complications , Long QT Syndrome/genetics , Long QT Syndrome*/therapy, Family ; Genetic Testing ; Humans
مستخلص:	The results of molecular genetic testing may affect recommended treatment or therapeutic decisions and risk assessment, may help with identification of family members at risk. Here, we report a case of a young patient with a paradoxical combination of two inherited arrhythmic syndromes and demonstrate the role of genetic testing as one of the basis of personalized approach in diagnosis, treatment and prevention complications of inherited channelopathies complications. Integration of genetic testing results into clinical practice is a successful example of the concept of personalized medicine.
فهرسة مساهمة:	Keywords: Brugada syndrome; SCN5A; arrhythmology; long QT syndrome; molecular genetic testing; p.E1784K; personalized medicine Local Abstract: [plain-language-summary] The results of genetic testing may help to clarify the diagnosis, help the doctor to choose treatment and patient management tactics. We report a case of a young patient with the relatively rare arrythmia. We are highlighting the role of genetic testing as a basis of personalized approach of arrhythmia patient.
تواريخ الأحداث:	Date Created: 20220121 Date Completed: 20220504 Latest Revision: 20220504
رمز التحديث:	20221213
DOI:	10.2217/pme-2021-0090
PMID:	35060774
قاعدة البيانات:	MEDLINE

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الوصف
تدمد:	1744-828X
DOI:	10.2217/pme-2021-0090