New pathogenic mutation in LMNA gene: Clinical case of familial cardiomyopathy

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Abstract

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.

About the authors

Svetlana Y. 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

Russian Federation, Moscow

Elena М. Rimskaya

Chazov National Medical Research Center of Cardiology

Author for correspondence.
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

Russian Federation, Moscow

Aleksei N. 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

Russian Federation, Moscow; Moscow

Nataliia А. 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

Russian Federation, Moscow

Irina K. 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

Russian Federation, Moscow

Elena A. Zelenova

Center for Strategic Planning and Management of Biomedical Health Risks

Email: eleno4ka_g@mail.ru

аналитик отд. медицинской геномики

Russian Federation, Moscow

Veronika V. 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

Russian Federation, Moscow

Mikhail V. 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

Russian Federation, Moscow

Daria A. 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

Russian Federation, Moscow

Vladimir S. 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

Russian Federation, Moscow

Anton A. 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.

Russian Federation, Moscow

Sergey I. 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

Russian Federation, Moscow

Alexsandra I. 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

Russian Federation, Moscow

Yulia N. 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

Russian Federation, Moscow

Sergey А. 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.

Russian Federation, Moscow

Sergey M. 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.

Russian Federation, Moscow

Sergey P. 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

Russian Federation, Moscow

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2. Fig. 1. Electrocardiography (ECG) data of patient G.: a – 12 lead ECG, atrial fibrillation is recorded [Frederick’s syndrome – AF (FS)], ventricular contraction rate – 41 beats/min, low voltage in standard leads; b–c – fragments of Holter ECG monitoring record: b – fragment with a minimum heart rate of 35 beats/min, complete atrioventricular block, AF (FF), single premature ventricular contraction; c – fragment with a heart rate of 41 beats/min, complete atrioventricular block (FS); d – fragment of Holter ECG with the onset of ventricular tachycardia (27 complexes with heart rate of 120 beats/min).

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3. Fig. 2. Family history of patient G. (proband is indicated by an arrow). The family members with clinical manifestations are colored black.

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4. Fig 3. The position of the detected mutation in the LMNA gene.

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