New pathogenic mutation in LMNA gene: Clinical case of familial cardiomyopathy
- 作者: Kashtanova S.Y.1, Rimskaya E.М.1, Meshkov A.N.1,2, Mironova N.А.1, Dzhumaniiazova I.K.3, Zelenova E.A.3, Daniel' V.V.1, Ivanov M.V.3, Kashtanova D.A.3, Yudin V.S.3, Keskinov A.A.3, Mitrofanov S.I.3, Akinshina A.I.3, Vanyushina Y.N.3, Kraevoy S.А.3, Yudin S.M.3, Golitsyn S.P.1
-
隶属关系:
- Chazov National Medical Research Center of Cardiology
- National Medical Research Center for Therapy and Preventive Medicine
- Center for Strategic Planning and Management of Biomedical Health Risks
- 期: 卷 97, 编号 1 (2025): Поликлинические проблемы и организация медицинской помощи
- 页面: 65-70
- 栏目: Clinical notes
- URL: https://journals.rcsi.science/0040-3660/article/view/291036
- DOI: https://doi.org/10.26442/00403660.2025.01.203030
- ID: 291036
如何引用文章
全文:
详细
We present a clinical case of familial LMNA-associated cardiomyopathy, confirmed by whole genome sequencing. The typical for lamin-associated cardiomyopathy indicates pathogenic nature of the mutation in the first exon of LMNA gene, previously considered a mutation of unknown clinical significance. The presented clinical case demonstrates a radical change in patient treatment strategies in the context of the widespread introduction of molecular genetic research methods into practice.
作者简介
Svetlana Kashtanova
Chazov National Medical Research Center of Cardiology
Email: eleno4ka_g@mail.ru
ORCID iD: 0000-0003-4731-0818
канд. мед. наук, мл. науч. сотр. отд. клинической электрофизиологии и рентгенохирургических методов лечения нарушений ритма сердца
俄罗斯联邦, MoscowElena Rimskaya
Chazov National Medical Research Center of Cardiology
编辑信件的主要联系方式.
Email: eleno4ka_g@mail.ru
ORCID iD: 0000-0002-0063-5474
канд. мед. наук, ст. науч. сотр. отд. клинической электрофизиологии и рентгенохирургических методов лечения нарушений ритма сердца
俄罗斯联邦, MoscowAleksei Meshkov
Chazov National Medical Research Center of Cardiology; National Medical Research Center for Therapy and Preventive Medicine
Email: eleno4ka_g@mail.ru
ORCID iD: 0000-0001-5989-6233
д-р мед. наук, помощник ген. дир. по научной и клинической работе, рук. Института персонализированной терапии и профилактики
俄罗斯联邦, Moscow; MoscowNataliia Mironova
Chazov National Medical Research Center of Cardiology
Email: eleno4ka_g@mail.ru
ORCID iD: 0000-0002-2374-3718
канд. мед. наук, ст. науч. сотр. отд. клинической электрофизиологии и рентгенохирургических методов лечения нарушений ритма сердца, зав. 7-м клиническим отд-нием
俄罗斯联邦, MoscowIrina Dzhumaniiazova
Center for Strategic Planning and Management of Biomedical Health Risks
Email: eleno4ka_g@mail.ru
ORCID iD: 0000-0001-5167-2112
аналитик отд. медицинской геномики
俄罗斯联邦, MoscowElena Zelenova
Center for Strategic Planning and Management of Biomedical Health Risks
Email: eleno4ka_g@mail.ru
аналитик отд. медицинской геномики
俄罗斯联邦, MoscowVeronika Daniel'
Chazov National Medical Research Center of Cardiology
Email: eleno4ka_g@mail.ru
ORCID iD: 0000-0003-0547-3280
канд. мед. наук, аналитик отд. медицинской геномики
俄罗斯联邦, MoscowMikhail Ivanov
Center for Strategic Planning and Management of Biomedical Health Risks
Email: eleno4ka_g@mail.ru
ORCID iD: 0009-0004-7070-5636
вед. аналитик отд. медицинской геномики
俄罗斯联邦, MoscowDaria Kashtanova
Center for Strategic Planning and Management of Biomedical Health Risks
Email: eleno4ka_g@mail.ru
ORCID iD: 0000-0001-8977-4384
канд. мед. наук, вед. аналитик отд. медицинской геномики
俄罗斯联邦, MoscowVladimir Yudin
Center for Strategic Planning and Management of Biomedical Health Risks
Email: eleno4ka_g@mail.ru
ORCID iD: 0000-0002-9199-6258
канд. биол. наук, дир. Института синтетической биологии и генной инженерии
俄罗斯联邦, MoscowAnton Keskinov
Center for Strategic Planning and Management of Biomedical Health Risks
Email: eleno4ka_g@mail.ru
ORCID iD: 0000-0001-7378-983X
канд. мед. наук, канд. экон. наук, зам. ген. дир.
俄罗斯联邦, MoscowSergey Mitrofanov
Center for Strategic Planning and Management of Biomedical Health Risks
Email: eleno4ka_g@mail.ru
ORCID iD: 0000-0003-0358-0568
нач. отд. системной биологии и биоинформатики
俄罗斯联邦, MoscowAlexsandra Akinshina
Center for Strategic Planning and Management of Biomedical Health Risks
Email: eleno4ka_g@mail.ru
ORCID iD: 0000-0002-7951-2003
аналитик отд. медицинской геномики
俄罗斯联邦, MoscowYulia Vanyushina
Center for Strategic Planning and Management of Biomedical Health Risks
Email: eleno4ka_g@mail.ru
ORCID iD: 0009-0006-3618-9038
аналитик лаб. биобанкирования и мультиомиксных методов исследований
俄罗斯联邦, MoscowSergey Kraevoy
Center for Strategic Planning and Management of Biomedical Health Risks
Email: eleno4ka_g@mail.ru
ORCID iD: 0000-0003-1775-9235
д-р мед. наук, первый зам. ген. дир.
俄罗斯联邦, MoscowSergey Yudin
Center for Strategic Planning and Management of Biomedical Health Risks
Email: eleno4ka_g@mail.ru
ORCID iD: 0000-0002-7942-8004
д-р мед. наук, ген. дир.
俄罗斯联邦, MoscowSergey Golitsyn
Chazov National Medical Research Center of Cardiology
Email: eleno4ka_g@mail.ru
ORCID iD: 0000-0001-9913-9974
д-р мед. наук, проф., рук. отд. клинической электрофизиологии и рентгенохирургических методов лечения нарушений ритма сердца
俄罗斯联邦, Moscow参考
- Rosario KF, Karra R, Amos K, et al. LMNA cardiomyopathy: Important considerations for the heart failure clinician. J Card Fail. 2023;29(12):1657-66. doi: 10.1016/j.cardfail.2023.08.016
- Morales A, Hershberger RE. Genetic evaluation of dilated cardiomyopathy. Curr Cardiol Rep. 2013;15(7):375. doi: 10.1007/s11886-013-0375-1
- Pinto YM, Elliott PM, Arbustini E, et al. Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice: A position statement of the ESC working group on myocardial and pericardial diseases. Eur Heart J. 2016;37(23):1850-8. doi: 10.1093/eurheartj/ehv727
- Lammerding J, Schulze PC, Takahashi T, et al. Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction. J Clin Invest. 2004;113(3): 370-8. doi: 10.1172/JCI19670
- Zeppenfeld K, Tfelt-Hansen J, de Riva M, et al.; ESC Scientific Document Group. 2022 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death. Eur Heart J. 2022;43(40):3997-4126. doi: 10.1093/eurheartj/ehac262
- Gigli M, Merlo M, Graw SL, et al. Genetic risk of arrhythmic phenotypes in patients with dilated cardiomyopathy. J Am Coll Cardiol. 2019;74(11):1480-90. doi: 10.1016/j.jacc.2019.06.072
- Kim S, Scheffler K, Halpern AL, et al. Strelka2: Fast and accurate calling of germline and somatic variants. Nat Methods. 2018;15(8):591-4. doi: 10.1038/s41592-018-0051-x
- Li Q, Wang K. InterVar: Clinical interpretation of genetic variants by the 2015 ACMG-AMP Guidelines. Am J Hum Genet. 2017;100(2):267-80. doi: 10.1016/j.ajhg.2017.01.004
- Wahbi K, Ben Yaou R, Gandjbakhch E, et al. Development and validation of a New Risk Prediction Score for life-threatening ventricular tachyarrhythmias in laminopathies. Circulation. 2019;140(4):293-302. doi: 10.1161/CIRCULATIONAHA.118.039410
- Мельник О.В., Малашичева А.Б., Фомичева Ю.В., и др. Клинико-диагностические сложности при ламинопатиях. Российский кардиологический журнал. 2019;24(10):72-7 [Melnik OV, Malashicheva AB, Fomicheva YuV, et al. Clinical and diagnostic difficulties in management of patients with laminopathies. Russian Journal of Cardiology. 2019;24(10):72-7 (in Russian)]. doi: 10.15829/1560-4071-2019-10-72-77
- Вайханская Т.Г., Сивицкая Л.Н., Даниленко Н.Г., и др. Мутации гена ламина A/C (LMNA) у пациентов с дилатационной кардиомиопатией и их фенотипические проявления. Евразийский кардиологический журнал. 2016;(1):3-11 [Vaikhanskaya TG, Sivitskaya LN, Danilenko NG, et al. Lamin A/C gene (LMNA) mutations in patients with dilated cardiomyopathy and their phenotypic manifestation. Eurasian Heart Journal. 2016;(1):3-11 (in Russian)]. doi: 10.38109/2225-1685-2016-1-3-11
- Kärkkäinen S, Reissell E, Heliö T, et al. Novel mutations in the lamin A/C gene in heart transplant recipients with end stage dilated cardiomyopathy. Heart. 2006;92(4):524-6. doi: 10.1136/hrt.2004.056721
- Kumar S, Baldinger SH, Gandjbakhch E, et al. Long-term arrhythmic and nonarrhythmic outcomes of lamin A/C mutation carriers. J Am Coll Cardiol. 2016;68(21):2299-307. doi: 10.1016/j.jacc.2016.08.058
补充文件
