emcardioНеотложная кардиология и кардиоваскулярные рискиEmergency Cardiology and Cardiovascular Risks journal2616-633XБелорусский государственный медицинский университет10.51922/2616-633X.2025.9.1.2483emcardio-126Research ArticleИнтересный клинический случайAn interesting clinical caseLMNA–ассоциированная дилатационная кардиомиопатияLamin-related dilated cardiomyopathyКомиссароваС. М.KomissarovaS. M.

220036, ул. Розы Люксембург, д. 110Б, Минск

220036, R. Luxemburg 110, Minsk

РинейскаяН. М.RineiskaN. M.

220036, ул. Розы Люксембург, д. 110Б, Минск

220036, R. Luxemburg 110, Minsk

ЧаковаН. Н.ChakovaN. N.

220072, ул. Академическая, д. 27, Минск

220072, Akademicheskaya 27, Minsk

НиязоваС. С.NiyazovaS. S.

220072, ул. Академическая, д. 27, Минск

220072, Akademicheskaya 27, Minsk

ДубовикА. Ю.DubovikA. Yu.

220036, ул. Розы Люксембург, д. 110Б, Минск

220036, R. Luxemburg 110, Minsk

ЕфимоваА. А.EfimovaA. A.

220036, ул. Розы Люксембург, д. 110Б, Минск

220036, R. Luxemburg 110, Minsk

ГУ «Республиканский научно-практический центр «Кардиология»State Institution Republican Scientific and Practical Centre “Cardiology”ГНУ «Институт генетики и цитологии НАН Беларуси»Institute of Genetics and Cytology of Belarus National Academy of Sciences2025110920259124832490Copyright © Комиссарова С.М., Ринейская Н.М., Чакова Н.Н., Ниязова С.С., Дубовик А.Ю., Ефимова А.А., 20252025Комиссарова С.М., Ринейская Н.М., Чакова Н.Н., Ниязова С.С., Дубовик А.Ю., Ефимова А.А.Komissarova S.M., Rineiska N.M., Chakova N.N., Niyazova S.S., Dubovik A.Y., Efimova A.A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://emcardio.bsmu.by/jour/article/view/126

Ламин-ассоциированная дилатационная кардиомиопатия – это генетические заболевания, являющиеся причиной быстропрогрессирующей сердечной недостаточности (СН), различных аритмий и нарушений проводимости и высокого риска внезапной сердечной смерти (ВСС). Представлено клиническое наблюдение пациента с кардиоламинопатией, обусловленной мутациями в гене LMNA, ранними проявлениями которой были быстропрогрессирующая СН, систолическая дисфункция желудочков сердца, аномалия клапанного аппарата, наджелудочковые и желудочковые нарушения ритма и проводимости. Показана эволюция клинических проявлений за период наблюдения, и обсуждены вопросы стратификации риска внезапной сердечной смерти и стратегия ее профилактики при данной патологии.

Lamin-related dilated cardiomyopathy is a genetic disease that causes rapidly progressive heart failure (HF), various arrhythmias and conduction disorders, and it is associated with a high risk of sudden cardiac death (SCD). The article presents a clinical case of a patient with cardiomyo- pathy caused by mutations in the LMNA gene, its early manifestations being rapidly progressive HF, ventricular systolic dysfunction, valvular abnormalities, supraventricular and ventricular rhythm and conduction disorders. The case study shows the evolution of clinical manifestations during the follow-up period, as well as discusses the risk stratification of sudden cardiac death and the strategy of its prevention.

ламин-ассоциированная дилатационная кардиомиопатияген LMNAсистолическая дисфункцияфункциональная митральная недостаточностьжелудочковые тахиаритмииlamin-related dilated cardiomyopathyLMNA genesystolic dysfunctionfunctional mitral valve regurgitationventricular tachyarrhythmiasReferencesHaas J., Frese K.S., Peil B., et al. Atlas of the clinical genetics of human dilated cardiomyopathy. Eur Heart J, 2015, vol. 36(18), pp. 1123-35a. https://doi.org/10.1093/eurheartj/ehu301.Haas J., Frese K.S., Peil B., et al. Atlas of the clinical genetics of human dilated cardiomyopathy. Eur Heart J, 2015, vol. 36(18), pp. 1123-35a. https://doi.org/10.1093/eurheartj/ehu301.Elliott P., Andersson B., Arbustini E., et al. Classification of the cardiomyopathies: a position statement from the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J, 2008, vol. 29(2), pp. 270-6. https://doi.org/10.1093/eurheartj/ehm342.Elliott P., Andersson B., Arbustini E., et al. Classification of the cardiomyopathies: a position statement from the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J, 2008, vol. 29(2), pp. 270-6. https://doi.org/10.1093/eurheartj/ehm342.Sedaghat-Hamedani F., Katus H.A., Meder B. Precision medicine for cardiovascular disease: Learning lessons from cardiomyopathies. Herz, 2018, vol. 43(2), pp. 123-130. https://doi.org/10.1007/s00059-017-4667-x.Sedaghat-Hamedani F., Katus H.A., Meder B. Precision medicine for cardiovascular disease: Learning lessons from cardiomyopathies. Herz, 2018, vol. 43(2), pp. 123-130. https://doi.org/10.1007/s00059-017-4667-x.Rosario K.F., Karra R., Amos K., et al. LMNA Cardiomyopathy: Important Considerations for the Heart Failure Clinician. J Card Fail, 2023, vol. 29(12), pp. 1657-1666. https://doi.org/10.1016/j.cardfail.2023.08.016.Rosario K.F., Karra R., Amos K., et al. LMNA Cardiomyopathy: Important Considerations for the Heart Failure Clinician. J Card Fail, 2023, vol. 29(12), pp. 1657-1666. https://doi.org/10.1016/j.cardfail.2023.08.016.Zhou H., Tan L., Lu T., et al. Identification of Target Genes and Transcription Factors in Mice with LMNA-Related Dilated Cardiomyopathy by Integrated Bioinformatic Analyses. Med Sci Monit, 2020, vol. 26, pp. e924576. https://doi.org/10.12659/MSM.924576.Zhou H., Tan L., Lu T., et al. Identification of Target Genes and Transcription Factors in Mice with LMNA-Related Dilated Cardiomyopathy by Integrated Bioinformatic Analyses. Med Sci Monit, 2020, vol. 26, pp. e924576. https://doi.org/10.12659/MSM.924576.Gerbino A., Procino G., Svelto M., Carmosino M. Role of Lamin A/C Gene Mutations in the Signaling Defects Leading to Cardiomyopathies. Front Physiol, 2018, vol. 9, pp. 1356. https://doi.org/10.3389/fphys.2018.01356.Gerbino A., Procino G., Svelto M., Carmosino M. Role of Lamin A/C Gene Mutations in the Signaling Defects Leading to Cardiomyopathies. Front Physiol, 2018, vol. 9, pp. 1356. https://doi.org/10.3389/fphys.2018.01356.Brodt C., Siegfried J.D., Hofmeyer M., et al. Temporal relationship of conduction system disease and ventricular dysfunction in LMNA cardiomyopathy. J Card Fail, 2013, vol. 19(4), pp. 233-9. https://doi.org/10.1016/j.cardfail.2013.03.001.Brodt C., Siegfried J.D., Hofmeyer M., et al. Temporal relationship of conduction system disease and ventricular dysfunction in LMNA cardiomyopathy. J Card Fail, 2013, vol. 19(4), pp. 233-9. https://doi.org/10.1016/j.cardfail.2013.03.001.Hasselberg N.E., Haland T.F., Saberniak J., et al. Lamin A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantation. Eur Heart J, 2018, vol. 39(10), pp. 853-860. https://doi.org/10.1093/eurheartj/ehx596.Hasselberg N.E., Haland T.F., Saberniak J., et al. Lamin A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantation. Eur Heart J, 2018, vol. 39(10), pp. 853-860. https://doi.org/10.1093/eurheartj/ehx596.Escobar-Lopez L., Ochoa J.P., Mirelis J.G., et al. Association of Genetic Variants with Outcomes in Patients with Nonischemic Dilated Cardiomyopathy. J Am Coll Cardiol, 2021, vol. 78(17), pp. 1682-1699. https://doi.org/10.1016/j.jacc.2021.08.039.Escobar-Lopez L., Ochoa J.P., Mirelis J.G., et al. Association of Genetic Variants with Outcomes in Patients with Nonischemic Dilated Cardiomyopathy. J Am Coll Cardiol, 2021, vol. 78(17), pp. 1682-1699. https://doi.org/10.1016/j.jacc.2021.08.039.Towbin J.A., McKenna W.J., Abrams D.J., et al. 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy. Heart Rhythm, 2019, vol. 16(11), pp. e301-e372. https://doi.org/10.1016/j.hrthm.2019.05.007.Towbin J.A., McKenna W.J., Abrams D.J., et al. 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy. Heart Rhythm, 2019, vol. 16(11), pp. e301-e372. https://doi.org/10.1016/j.hrthm.2019.05.007.Wang X., Zabell A., Koh W., Tang W.H. Lamin A/C Cardiomyopathies: Current Understanding and Novel Treatment Strategies. Curr Treat Options Cardiovasc Med, 2017, vol. 19(3), pp. 21. https://doi.org/10.1007/s11936-017-0520-z.Wang X., Zabell A., Koh W., Tang W.H. Lamin A/C Cardiomyopathies: Current Understanding and Novel Treatment Strategies. Curr Treat Options Cardiovasc Med, 2017, vol. 19(3), pp. 21. https://doi.org/10.1007/s11936-017-0520-z.Kayvanpour E., Sedaghat-Hamedani F., Amr A., et al Genotype-phenotype associations in dilated cardiomyopathy: meta-analysis on more than 8000 individuals. Clin Res Cardiol, 2017, vol. 106(2), pp. 127-139. https://doi.org/10.1007/s00392-016-1033-6.Kayvanpour E., Sedaghat-Hamedani F., Amr A., et al Genotype-phenotype associations in dilated cardiomyopathy: meta-analysis on more than 8000 individuals. Clin Res Cardiol, 2017, vol. 106(2), pp. 127-139. https://doi.org/10.1007/s00392-016-1033-6.Pasotti M., Klersy C., Pilotto A., et al. Long-term outcome and risk stratification in dilated cardiolaminopathies. J Am Coll Cardiol, 2008, vol. 52(15), pp. 1250-60. https://doi.org/10.1016/j.jacc.2008.06.044.Pasotti M., Klersy C., Pilotto A., et al. Long-term outcome and risk stratification in dilated cardiolaminopathies. J Am Coll Cardiol, 2008, vol. 52(15), pp. 1250-60. https://doi.org/10.1016/j.jacc.2008.06.044.Alba A.C., Foroutan F., Duero Posada J., et al. Implantable cardiac defibrillator and mortality in non-ischaemic cardiomyopathy: an updated meta-analysis. Heart, 2018, vol. 104(3), pp. 230-236. https://doi.org/10.1136/heartjnl-2017-311430.Alba A.C., Foroutan F., Duero Posada J., et al. Implantable cardiac defibrillator and mortality in non-ischaemic cardiomyopathy: an updated meta-analysis. Heart, 2018, vol. 104(3), pp. 230-236. https://doi.org/10.1136/heartjnl-2017-311430.Kumar S., Baldinger S.H., Gandjbakhch E., et al. Long-Term Arrhythmic and Nonarrhythmic Outcomes of Lamin A/C Mutation Carriers. J Am Coll Cardiol, 2016, vol. 68(21), pp. 2299-2307. https://doi.org/10.1016/j.jacc.2016.08.058.Kumar S., Baldinger S.H., Gandjbakhch E., et al. Long-Term Arrhythmic and Nonarrhythmic Outcomes of Lamin A/C Mutation Carriers. J Am Coll Cardiol, 2016, vol. 68(21), pp. 2299-2307. https://doi.org/10.1016/j.jacc.2016.08.058.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, vol. 140(4), pp. 293-302. https://doi.org/10.1161/CIRCULATIONAHA.118.039410.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, vol. 140(4), pp. 293-302. https://doi.org/10.1161/CIRCULATIONAHA.118.039410.Feldman T., Kar S., Rinaldi M., et al. EVEREST Investigators. Percutaneous mitral repair with the MitraClip system: safety and midterm durability in the initial EVEREST (Endovascular Valve Edge-to-Edge REpair Study) cohort. J Am Coll Cardiol, 2009, vol. 54(8), pp. 686-94. https://doi.org/10.1016/j.jacc.2009.03.077.Feldman T., Kar S., Rinaldi M., et al. EVEREST Investigators. Percutaneous mitral repair with the MitraClip system: safety and midterm durability in the initial EVEREST (Endovascular Valve Edge-to-Edge REpair Study) cohort. J Am Coll Cardiol, 2009, vol. 54(8), pp. 686-94. https://doi.org/10.1016/j.jacc.2009.03.077.Petrie M.C., Connelly D.T., Gardner R.S. Who needs an implantable cardioverter-defibrillator? Controversies and opportunities after DANISH. Eur J Heart Fail, 2018, vol. 20(3), pp. 413-416. https://doi.org/10.1002/ejhf.1135.Petrie M.C., Connelly D.T., Gardner R.S. Who needs an implantable cardioverter-defibrillator? Controversies and opportunities after DANISH. Eur J Heart Fail, 2018, vol. 20(3), pp. 413-416. https://doi.org/10.1002/ejhf.1135.Crasto S., My I., Di Pasquale E. The Broad Spectrum of LMNA Cardiac Diseases: From Molecular Mechanisms to Clinical Phenotype. Front Physiol, 2020, vol. 11, pp. 761. https://doi.org/10.3389/fphys.2020.00761.Crasto S., My I., Di Pasquale E. The Broad Spectrum of LMNA Cardiac Diseases: From Molecular Mechanisms to Clinical Phenotype. Front Physiol, 2020, vol. 11, pp. 761. https://doi.org/10.3389/fphys.2020.00761.Chen S.N., Sbaizero O., Taylor M.R.G. et al. Lamin A/C Cardiomyopathy: Implications for Treatment. Curr Cardiol Rep, 2019, vol. 21(12), pp. 160. https://doi.org/10.1007/s11886-019-1224-7.Chen S.N., Sbaizero O., Taylor M.R.G. et al. Lamin A/C Cardiomyopathy: Implications for Treatment. Curr Cardiol Rep, 2019, vol. 21(12), pp. 160. https://doi.org/10.1007/s11886-019-1224-7.Anastasiou V., Papazoglou A.S., Gossios T., et al. Prognostic implications of genotype findings in non-ischaemic dilated cardiomyopathy: A network meta-analysis. Eur J Heart Fail, 2024, vol. 26(10), pp. 2155-2168. https://doi.org/10.1002/ejhf.3403.Anastasiou V., Papazoglou A.S., Gossios T., et al. Prognostic implications of genotype findings in non-ischaemic dilated cardiomyopathy: A network meta-analysis. Eur J Heart Fail, 2024, vol. 26(10), pp. 2155-2168. https://doi.org/10.1002/ejhf.3403.Taylor M.R., Fain P.R., Sinagra G., et al. Familial Dilated Cardiomyopathy Registry Research Group. Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. J Am Coll Cardiol, 2003, vol. 41(5), pp. 771-80. https://doi.org/10.1016/s0735-1097(02)02954-6.Taylor M.R., Fain P.R., Sinagra G., et al. Familial Dilated Cardiomyopathy Registry Research Group. Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. J Am Coll Cardiol, 2003, vol. 41(5), pp. 771-80. https://doi.org/10.1016/s0735-1097(02)02954-6.van Spaendonck-Zwarts K.Y., van Rijsingen I.A., van den Berg M.P., et al. Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years’ experience. Eur J Heart Fail, 2013, vol. 15(6), pp. 628-36. https://doi.org/10.1093/eurjhf/hft013.van Spaendonck-Zwarts K.Y., van Rijsingen I.A., van den Berg M.P., et al. Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years’ experience. Eur J Heart Fail, 2013, vol. 15(6), pp. 628-36. https://doi.org/10.1093/eurjhf/hft013.Jansweijer J.A., Nieuwhof K., Russo F., et al. Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy. Eur J Heart Fail, 2017, vol. 19(4), pp. 512-521. https://doi.org/10.1002/ejhf.673.Jansweijer J.A., Nieuwhof K., Russo F., et al. Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy. Eur J Heart Fail, 2017, vol. 19(4), pp. 512-521. https://doi.org/10.1002/ejhf.673.Tayal U., Newsome S., Buchan R., et al. Phenotype and Clinical Outcomes of Titin Cardiomyopathy. J Am Coll Cardiol, 2017, vol. 70(18), pp. 2264-2274. https://doi.org/10.1016/j.jacc.2017.08.063.Tayal U., Newsome S., Buchan R., et al. Phenotype and Clinical Outcomes of Titin Cardiomyopathy. J Am Coll Cardiol, 2017, vol. 70(18), pp. 2264-2274. https://doi.org/10.1016/j.jacc.2017.08.063.Akinrinade O., Ollila L., Vattulainen S., et al. Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy. Eur Heart J, 2015, vol. 36(34), pp. 2327-37. https://doi.org/10.1093/eurheartj/ehv253.Akinrinade O., Ollila L., Vattulainen S., et al. Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy. Eur Heart J, 2015, vol. 36(34), pp. 2327-37. https://doi.org/10.1093/eurheartj/ehv253.Tobita T, Nomura S, Fujita T, et al. Genetic basis of cardiomyopathy and the genotypes involved in prognosis and left ventricular reverse remodeling. Sci Rep, 2018, vol. 8(1), pp. 1998. https://doi.org/10.1038/s41598-018-20114-9.Tobita T, Nomura S, Fujita T, et al. Genetic basis of cardiomyopathy and the genotypes involved in prognosis and left ventricular reverse remodeling. Sci Rep, 2018, vol. 8(1), pp. 1998. https://doi.org/10.1038/s41598-018-20114-9.Ollila L., Nikus K., Holmström M., et al. Clinical disease presentation and ECG characteristics of LMNA mutation carriers. Open Heart, 2017, vol. 4(1), pp. e000474. https://doi.org/10.1136/openhrt-2016-000474.Ollila L., Nikus K., Holmström M., et al. Clinical disease presentation and ECG characteristics of LMNA mutation carriers. Open Heart, 2017, vol. 4(1), pp. e000474. https://doi.org/10.1136/openhrt-2016-000474.

The authors declare that there are no conflicts of interest present.