News in diagnostics and treament of cardiomyopathies

Česká verzia

Authors: Hana Poloczková ¹; Tomáš Honek ¹; Anna Chaloupka ¹; Lukáš Opatřil ^1,2; Mária Bakošová ¹; Jan Krejčí ¹
Authors place of work: I. interní kardioangiologická klinika Fakultní nemocnice u sv. Anny v Brně, a Lékařské fakulty Masarykovy univerzity ¹; Mezinárodní centrum klinického výzkumu Fakultní nemocnice u sv. Anny v Brně ²
Published in the journal: Vnitř Lék 2023; 69(2): 89-104
Category: Main Topic
doi: https://doi.org/10.36290/vnl.2023.016

Summary

Cardiomyopathies are defined as myocardial disorders in which the heart muscle is structurally and functionaly abnormal in the absence of a disease sufficient to cause this abnormality such as coronary artery disease, hypertension, valvular or congenital heart disease. According to the phenotype expresion cardiomyopathies are divided into dilated, hypertrophic, restrictive, arrhytmogenic and unclassified cardiomyopathies (noncompaction and tako-tsubo cardiomyopathy). The same phenotypic expression may include etiologically different forms of the disease, and at the same time phenotypic expression may change in many cardiomyopathies in the course of illness. For each type of cardiomyopathy, we further distinguish the familial (genetic) form and the acquired form. The clinical manifestation of the disease includes symptoms of heart failure, with reduced, mildly reduced or preserved ejection fraction, symptoms resulting from a number of arrhythmias and extracardiac symptoms, but in some cases symptoms may not be presented for a relatively long time. The disease can lead to significant morbidity and mortality if not detected and treated early, especially in young people who are frequently affected. Significant developments in diagnostic and treatment methods have led to an improvement in the prognosis of patients with cardiomyopathies in recent years.

Keywords:

genetic testing – heart failure – cardiomyopathy – cardiac magnetic resonance

Zdroje

1. 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;29(2):270-276. doi:10.1093/eurheartj/ehm342

2. Arbustini E, Narula N, Tavazzi L, et al. The MOGE(S) classification of cardiomyopathy for clinicians. J Am Coll Cardiol. 2014;64(3):304-318. doi:10.1016/j.jacc.2014. 05. 027

3. Merlo M, Gagno G, Baritussio A, et al. Clinical application of CMR in cardiomyopathies: evolving concepts and techniques : A position paper of myocardial and pericardial diseases and cardiac magnetic resonance working groups of Italian society of cardiology. Heart Fail Rev. 2023;28(1):77-95. doi:10.1007/s10741-022-10235-9

4. McDonagh TA, Metra M, Adamo M, et al. 2021 ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure. Eur Heart J. 2021;42(36):3599-3726. doi:10.1093/ eurheartj/ehab368

5. Arbustini E, Behr ER, Carrier L, et al. Interpretation and actionability of genetic variants in cardiomyopathies: a position statement from the European Society of Cardiology Council on cardiovascular genomics. Eur Heart J. 2022;43(20):1901-1916. doi:10.1093/ eurheartj/ehab895

6. Ammirati E, Buono A, Moroni F, et al. State‑of‑the‑Art of Endomyocardial Biopsy on Acute Myocarditis and Chronic Inflammatory Cardiomyopathy. Curr Cardiol Rep. 2022;24(5):597- 609. doi:10.1007/s11886-022-01680-x

7. Seferović PM, Tsutsui H, McNamara DM, et al. Heart Failure Association of the ESC, Heart Failure Society of America and Japanese Heart Failure Society Position statement on endomyocardial biopsy. Eur J Heart Fail. 2021;23(6):854-871. doi:10.1002/ejhf.2190

8. Caforio ALP, Pankuweit S, Arbustini E, et al. Current state of knowledge on aetiology, diagnosis, management, and therapy of myocarditis: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2013;34(33):2636-2648, 2648a-2648d. doi:10.1093/eurheartj/eht210

9. Veselka J, Anavekar NS, Charron P. Hypertrophic obstructive cardiomyopathy. Lancet Lond Engl. 2017;389(10075):1253-1267. doi:10.1016/S0140-6736(16)31321-6

10. Bláha M. (Athlete’s heart vs hypertrophic cardiomyopathy - differential diagnostics according to current guidelines). Cor Vasa. 2020;62(1):50-55. doi:10.33678/cor.2019.087

11. Brenes JC, Doltra A, Prat S. Cardiac magnetic resonance imaging in the evaluation of patients with hypertrophic cardiomyopathy. Glob Cardiol Sci Pract. 2018;2018(3):22. doi:10.21542/gcsp.2018.22

12. Palandri C, Santini L, Argirò A, et al. Pharmacological Management of Hypertrophic Cardiomyopathy: From Bench to Bedside. Drugs. 2022;82(8):889-912. doi:10.1007/s40265- 022-01728-w

13. Olivotto I, Oreziak A, Barriales‑Villa R, et al. Mavacamten for treatment of symptomatic obstructive hypertrophic cardiomyopathy (EXPLORER‑HCM): a randomised, double‑blind, placebo‑controlled, phase 3 trial. Lancet Lond Engl. 2020;396(10253):759-769. doi:10.1016/ S0140-6736(20)31792-X

14. Hegde SM, Lester SJ, Solomon SD, et al. Effect of Mavacamten on Echocardiographic Features in Symptomatic Patients With Obstructive Hypertrophic Cardiomyopathy. J Am Coll Cardiol. 2021;78(25):2518-2532. doi:10.1016/j.jacc.2021. 09. 1381

15. Ho CY, Mealiffe ME, Bach RG, et al. Evaluation of Mavacamten in Symptomatic Patients With Nonobstructive Hypertrophic Cardiomyopathy. J Am Coll Cardiol. 2020;75(21):2649- 2660. doi:10.1016/j.jacc.2020. 03. 064

16. Sigwart U. Non‑surgical myocardial reduction for hypertrophic obstructive cardiomyopathy. The Lancet. 1995;346(8969):211-214. doi:10.1016/S0140-6736(95)91267-3

17. Bytyçi I, Nistri S, Mörner S, Henein MY. Alcohol Septal Ablation versus Septal Myectomy Treatment of Obstructive Hypertrophic Cardiomyopathy: A Systematic Review and Meta‑Analysis. J Clin Med. 2020;9(10):3062. doi:10.3390/jcm9103062

18. Lawrenz T, Kuhn H. Endocardial radiofrequency ablation of septal hypertrophy. A new catheter‑based modality of gradient reduction in hypertrophic obstructive cardiomyopathy. Z Kardiol. 2004;93(6):493-499. doi:10.1007/s00392-004-0097-x

19. Lawrenz T, Lawin D, Radke K, Stellbrink C. Acute and chronic effects of endocardial radiofrequency ablation of septal hypertrophy in HOCM. J Cardiovasc Electrophysiol. 2021;32(10):2617-2624. doi:10.1111/jce.15203

20. Ommen SR, Mital S, Burke MA, et al. 2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy: Executive Summary: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines. J Am Coll Cardiol. 2020;76(25):3022-3055. doi:10.1016/j. jacc.2020. 08. 044

21. Authors/Task Force members, Elliott PM, Anastasakis A, et al. 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). Eur Heart J. 2014;35(39):2733-2779. doi:10.1093/eurheartj/ehu284

22. Tower‑Rader A, Jaber WA. Multimodality Imaging Assessment of Fabry Disease. Circ Cardiovasc Imaging. 2019;12(11):e009013. doi:10.1161/CIRCIMAGING.119.009013

23. Pieroni M, Moon JC, Arbustini E, et al. Cardiac Involvement in Fabry Disease: JACC Review Topic of the Week. J Am Coll Cardiol. 2021;77(7):922-936. doi:10.1016/j.jacc.2020. 12. 024

24. Zemánek D, Januška J, Honěk T, et al. Nationwide screening of Fabry disease in patients with hypertrophic cardiomyopathy in Czech Republic. ESC Heart Fail. 2022;9(6):4160- 4166. doi:10.1002/ehf2.14135

25. Weidemann F, Jovanovic A, Herrmann K, Vardarli I. Chaperone Therapy in Fabry Disease. Int J Mol Sci. 2022;23(3):1887. doi:10.3390/ijms23031887

26. El Dib R, Gomaa H, Carvalho RP, et al. Enzyme replacement therapy for Anderson‑Fabry disease. Cochrane Database Syst Rev. 2016;7(7):CD006663. doi:10.1002/14651858. CD006663.pub4

27. Simonetta I, Tuttolomondo A, Daidone M, Miceli S, Pinto A. Treatment of Anderson‑Fabry Disease. Curr Pharm Des. 2020;26(40):5089-5099. doi:10.2174/1381612826666200317142412

28. 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):1850-1858. doi:10.1093/eurheartj/ehv727

29. Diagnosis and Management of Rare Cardiomyopathies in Adult and Paediatric Patients. A Position Paper of the Italian Society of Cardiology (SIC) and Italian Society of Paediatric Cardiology (SICP) | Elsevier Enhanced Reader. doi:10.1016/j.ijcard.2022. 03. 050

30. Schultheiss HP, Fairweather D, Caforio ALP, et al. Dilated cardiomyopathy. Nat Rev Dis Primer. 2019;5(1):32. doi:10.1038/s41572-019-0084-1

31. Towbin JA, McKenna WJ, Abrams DJ, et al. 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy. Heart Rhythm. 2019;16(11):e301-e372. doi:10.1016/j.hrthm.2019. 05. 007

32. Wilde AAM, Semsarian C, Márquez MF, et al. European Heart Rhythm Association (EHRA)/ Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the State of Genetic Testing for Cardiac Diseases. Heart Rhythm. 2022;19(7):e1-e60. doi:10.1016/j.hrthm.2022. 03. 1225

33. Donal E, Delgado V, Bucciarelli‑Ducci C, et al. Multimodality imaging in the diagnosis, risk stratification, and management of patients with dilated cardiomyopathies: an expert consensus document from the European Association of Cardiovascular Imaging. Eur Heart J Cardiovasc Imaging. 2019;20(10):1075-1093. doi:10.1093/ehjci/jez178

34. Di Marco A, Anguera I, Schmitt M, et al. Late Gadolinium Enhancement and the Risk for Ventricular Arrhythmias or Sudden Death in Dilated Cardiomyopathy: Systematic Review and Meta‑Analysis. JACC Heart Fail. 2017;5(1):28-38. doi:10.1016/j.jchf.2016. 09. 017

35. Li S, Zhou D, Sirajuddin A, et al. T1 Mapping and Extracellular Volume Fraction in Dilated Cardiomyopathy: A Prognosis Study. JACC Cardiovasc Imaging. 2022;15(4):578-590. doi:10.1016/j.jcmg.2021. 07. 023

36. Halliday BP. State of the art: multimodality imaging in dilated cardiomyopathy. Heart Br Card Soc. 2022;108(23):1910-1917. doi:10.1136/heartjnl-2022-321116

37. Halliday BP, Wassall R, Lota AS, et al. Withdrawal of pharmacological treatment for heart failure in patients with recovered dilated cardiomyopathy (TRED‑HF): an open‑label, pilot, randomised trial. Lancet Lond Engl. 2019;393(10166):61-73. doi:10.1016/S0140-6736(18)‑ 32484-X

Další literatura u autorů a na www.casopisvnitrnilekarstvi.cz