Cardiac manifestations in myotonic dystrophy type 1
A. G. Klementieva,
E. K. Erokhina,
K. V. Shamtieva,
E. A. Melnik,
A. N. Khrobostova ,
M. B. Filipenko,
A. A. Arakelyants,
T. V. Peters,
E. P. Pavlikova https://doi.org/10.15829/1728-8800-2024-3999
Abstract
Aim. To characterize cardiac damage in myotonic dystrophy type 1 (MD1), which is the most common form of hereditary primary muscular pathology in adults.
Material and methods. Forty-eight patients with MD1 (31 men, 17 women, mean age 39,2±9,3 years) underwent clinical examination, neuropsychological examination, lipid profile assessment, electrocardiography (ECG), Holter ECG monitoring, and echocar-diography. Four clinical cases are presented that demonstrate clear cardiac manifestations of MD1.
Results. The patients did not complain of arrhythmias or chest pain, while 7 (14,6%) had complaints of exercise shortness of breath. Cardiac conduction disorders occurred in 18 (37,5%) patients, which were represented by firstand second-degree atrioventricular (AV) block, his bundle and intraventricular conduction disturbances. According to Holter monitoring, heart rate <60 bpm was recorded in 46 (95,8%) patients, of which 2 (4,2%) were <30 bpm. One (2.1%) patient had atrial fibrillation. According to echocardiography, ventricular enlargement was detected in 3 (6,3%) patients, and atrial enlargement — in 8 (16,7%). None of the patients had an ejection fraction <50%.
Conclusion. Cardiac involvement is a common manifestation of MD1. Full cardiac examination can help not only improve the quality of life of patients, but also avoid possible side effects of the prescribed treatment.
About the Authors
A. G. Klementieva
Medical Research and Educational Center of Lomonosov Moscow State University
Russian Federation
Russian Federation
Anna G. Klementieva
Moscow
E. K. Erokhina
Veltishchev Research Clinical Institute of Pediatrics and Pediatric Surgery of Pirogov Russian National Research University
Russian Federation
Russian Federation
Elizaveta K. Erokhina
Moscow
K. V. Shamtieva
Medical Research and Educational Center of Lomonosov Moscow State University
Russian Federation
Russian Federation
Kamila V. Shamtieva
Moscow
E. A. Melnik
Veltishchev Research Clinical Institute of Pediatrics and Pediatric Surgery of Pirogov Russian National Research University;
Bochkov Medical Genetics Research Center
Russian Federation
Russian Federation
Evgenia A. Melnik
Moscow
A. N. Khrobostova
Medical Research and Educational Center of Lomonosov Moscow State University
Russian Federation
Russian Federation
Anastasia N. Khrobostova
Moscow
M. B. Filipenko
Medical Research and Educational Center of Lomonosov Moscow State University
Russian Federation
Russian Federation
Marina B Filipenko
Moscow
A. A. Arakelyants
I. M. Sechenov First Moscow State Medical University
Russian Federation
Russian Federation
Amalia A. Arakelyants
Moscow
T. V. Peters
Medical Research and Educational Center of Lomonosov Moscow State University
Russian Federation
Russian Federation
Tatyana V. Peters
Moscow
E. P. Pavlikova
Medical Research and Educational Center of Lomonosov Moscow State University
Russian Federation
Russian Federation
Elena P. Pavlikova
Moscow
References
1. Erokhina EK, Melnik EA, Vlodavets DV. Clinical features of the course of various forms of myotonic dystrophy type 1. Russian Journal of Child Neurology. 2023;18(1):22-37. (In Russ.) doi:10.17650/2073-8803-2023-18-1-22-37.
2. Johnson NE, Butterfield RJ, Mayne K, et al. Population-based prevalence of myotonic dystrophy type 1 using genetic analysis of statewide blood screening program. Neurology. 2021;96(7): e1045-53. doi:10.1212/WNL.0000000000011425.
3. Nigro G, Papa AA, Politano L. The heart and cardiac pacing in Steinert disease. Acta Myologica. 2012;31(2):110-6.
4. Mironov NYu, Mironova NA, Sokolov SF, et al. Ventricular tachycardia as a first manifestation of myotonic dystrophy. Kardiologiia. 2015;8:86-96. (In Russ.)
5. Johnson NE, Butterfield R, Berggren K, et al. Disease burden and functional outcomes in congenital myotonic dystrophy: A crosssectional study. Neurology. 2016;87(2):160-7. doi:10.1212/WNL.0000000000002845.
6. Russo V, Antonini G, Massa R, et al. Comprehensive Cardiovascular Management of Myotonic Dystrophy Type 1 Patients: A Report from the Italian Neuro-Cardiology Network. J Cardiovasc Dev Dis. 2024;11(2):63. doi:10.3390/jcdd11020063.
7. Ashizawa T, Gagnon, Groh WJ, et al. Consensus-based care recommendations for adults with myotonic dystrophy type 1. Neurol Clin Pract. 2018;8(6):507-20. doi:10.1212/CPJ.0000000000000531.
8. Groh WJ, Groh MR, Saha C, et al. Electrocardiographic abnormalities and sudden death in myotonic dystrophy type 1. New Engl J Med. 2008;358:2688-97. doi:10.1056/NEJMoa062800.
9. Oloffson B, Forsberg H, Andersson S, et al. Electrocardiographic findings in myotonic dystrophy. Br Heart J. 1988;59:47-52.
10. Laurent V, Pellieux S, Corcia P, et al. Mortality in myotonic dystrophy patients in the area of prophylactic pacing devices. Int J Cardiol. 2011;150:54-8. doi:10.1016/j.ijcard.2010.02.029.
11. Varako NA, Arkhipova DV, Kovyazina MS, et al. The Addenbrooke’s Cognitive Examination III (ACE-III): linguistic and cultural adaptation into Russia. Annals of Clinical and Experimental Neurology. 2022;16(1):53-8. (In Russ.) doi:10.54101/ACEN.2022.1.7.
12. Gallais B, Gagnon C, Côté I, et al. Reliability of the Apathy Evaluation Scale in Myotonic Dystrophy Type 1. J Neuromusc Dis. 2018;5(1):39-46. doi:10.3233/JND-170274.
13. Ezhov MV, Sergienko IV, Kukharchuk VV. Clinical guidelines for lipid disorders 2023. What’s new? The Journal of Atherosclerosis and Dyslipidemias. 2023;3(52):5-9. (In Russ.) doi:10.34687/2219-8202.JAD.2023.03.0001.
14. 2022 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death. Ateroscleroz. 2023;19(1):57-68. (In Russ.)
15. Revishvili ASh, Artyukhina EA, Glezer MG, et al. Bradyarrhythmias and conduction disorders. Clinical guidelines 2020. Russian Journal of Cardiology. 2021;26(4):4448. (In Russ.) doi:10.15829/1560-4071-2021-4448.
16. Priori SG, Blomström-Lundqvist C, Mazzanti A, et al. 2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: The Task Force for the Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death of the European Society of Cardiology (ESC). Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC). Eur Heart J. 2015;36:2793-867. doi:10.1093/eurheartj/ehv316.
17. Russo V, Sperlongano S, Gallinoro E, et al. Prevalence of Left Ventricular Systolic Dysfunction in Myotonic Dystrophy Type 1: A Systematic Review. J Card Fail. 2020;26:849-56. doi:10.1016/j.cardfail.2019.07.548.
18. Russo V, Papa AA, Williams E.A, et al. ACE inhibition to slow progression of myocardial fibrosis in muscular dystrophies. Trends Cardiovasc Med. 2018;(28):330-7. doi:10.1016/j.tcm.2017.12.006.
19. Alishetti S, Bodepudi S, Rosenblatt A.The geneticist with unfortunate genes: coronary artery disease in myotonic dystrophy. J Am Coll Cardiol. 2017;69(11 Suppl.):2230. doi:10.1016/S0735-1097(17)35619-X.
20. Verdicchio C, Freene N, Hollings M, et al. A Clinical Guide for Assessment and Prescription of Exercise and Physical Activity in Cardiac Rehabilitation. A CSANZ Position Statement. Heart Lung Circ. 2023;32(9):1035-48. doi:10.1016/j.hlc.2023.06.854.
21. Kusumoto FM, Schoenfeld MH, Barrett C, et al. 2018 ACC/AHA/HRS Guideline on the evaluation and management of patients with bradycardia and cardiac conduction delay: a report of the american college of cardiology/american heart association task force on clinical practice guidelines and the heart rhythm society. Circulation. 2019;140:e382-482. doi:10.1161/CIR.0000000000000628.
22. Kurihara T. New classification and treatment for myotonic disorders. Intern Med. 2005;44(10):1027-32. doi:10.2169/internalmedicine.44.1027.
23. Sechi GP, Traccis S, Durelli L, et al. Carbamazepine versus diphenylhydantoin in the treatment of myotonia. Eur Neurol. 1983;22(2):113-8. doi:10.1159/000115546.
Supplementary files
What is already known about the subject?
- Cardiac disease, which occurs in the vast majority of patients with myotonic dystrophy type 1 (MD1), is the second most common cause of death after respiratory disorders and often precedes generalized muscle weakness.
- Cardiac symptoms most often include conduction disturbances, tachyarrhythmias and ischemic manifestations, the timely diagnosis of which is important to reduce the death risk.
What might this study add?
- The management of patients is significantly influenced by their neuropsychological profile, especially the severity of cognitive impairment, which reduces critical attitude towards condition and requires regular cardiovascular examination, even in the absence of complaints.
Review
For citations:
Klementieva A.G., Erokhina E.K., Shamtieva K.V., Melnik E.A., Khrobostova A.N., Filipenko M.B., Arakelyants A.A., Peters T.V., Pavlikova E.P. Cardiac manifestations in myotonic dystrophy type 1. Cardiovascular Therapy and Prevention. 2024;23(8):3999. (In Russ.) https://doi.org/10.15829/1728-8800-2024-3999
Views:
589
Email this article 
