Arrthymogennic Cardiomyopathy by Dr Nguyen Hoang Minh

ACM disease

1. Arrhythmogenic Cardiomyopathy BSNT. Nguyễn Hoàng Minh TS.BS Trần Vũ Minh Thư 1

2. 2 Contents 01 Introdutions 03 02 04 Diagnosis Family screening Risk Strafication Treatment

3. 3 INTRODUCTIONS 01 History Pathogenesis Prevalence

4. 4 ARVC ACM ARVD ALVC ?

5. 5 1970 1982 90s 1994 2010 First described by Marcus as Right ventricular dysplasia The term ARVC Involvement of the LV -> ACM 2020 1994 Original Task Force Criteria for ARVC Revised Criteria for ARVC The 2020 International Criteria For ACM “ Padua Criteria ”

6. 6 Definition ACM is defined as an arrhythmogenic heart muscle disorder not explained by ischemic, hypertensive, or valvular heart disease. ACM may present clinically as symptoms or documentation of atrial fibrillation, conduction disease, and/or right ventricular (RV) and/or left ventricular (LV) arrhythmia Jeffrey A. Towbin , 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy May 09, 2019DOI:https://doi.org/10.1016/j.hrthm.2019.05.007

7. 7 Pathogenesis

8. 8 Braunwald's Heart Disease, A Textbook of Cardiovascular Medicine 12 th ed

9. 9 Pathogenesis The ESC Textbook of Cardiovascular Medicine (3 edn )

10. 10 Pathogenesis

11. 11 Pathogenesis Mechanisms Key points Ion channel defect SCN5A, KCNQ1, KCNH2, LQTS,BrS Cytoskeletal defects desmin (DES), filamin C (FLNC), ZASP (LDB3) Sarcomere defects myosin heavy chain (MYH7), MYBPC3, HCM, DCM Metabolic mechanisms Carnitine deficiency Amyloidosis ATTR Mitochondrial LVNC in young children, Kearns-Sayre syndrome Histiocytoid Jeffrey A. Towbin , 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy

12. 12 Prevalence 1:5000 11% SCD in young adults First-degree relatives -> 35% Siblings 3-fold higher Corrado D, Thiene G. Arrhythmogenic right ventricular cardiomyopathy/dysplasia: clinical impact of molecular genetic studies. Circulation 2006; 113:1634. McKenna WJ, Judge DP. Epidemiology of the inherited cardiomyopathies. Nat Rev Cardiol 2021; 18:22.

13. 13 DIAGNOSIS 02 Clinical manifestations Initial evaluation Diagnosis Criteria Genetic Testing

14. 14 Clinical manifestations https://doi.org/10.1161/01.CIR.0000143375.93288.82

15. 15 Initial evaluation Who should be considered? Exercise-related palpitations and/or syncope. Survivors of sudden cardiac arrest, during exercise. Frequent VPB >500 in 24 hours and/or VT of LBBB morphology Family history of ACM Jeffrey A. Towbin , 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy May 09, 2019DOI:https://doi.org/10.1016/j.hrthm.2019.05.007

16. 16 Initial evaluation What should be taken? Clinical history, physical examination, detailed family history ECG, 24h Holter Echo, MRI Jeffrey A. Towbin , 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy May 09, 2019DOI:https://doi.org/10.1016/j.hrthm.2019.05.007

17. 17 Domenico Corrado , Diagnosis of arrhythmogenic cardiomyopathy: The Padua criteria

18. 18 Diagnosis Criteria 1. Global or regional dysfunction and structure alteration 2. Tissue characterization 3. Repolarization abnormalities 4. Depolarization and conduction abnormalities 5. Arrhythmias 6. Family history/genetics 2010 TF Criteria PADUA Criteria and Jeffrey A. Towbin , 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy May 09, 2019DOI:https://doi.org/10.1016/j.hrthm.2019.05.007

19. 19 Definite: 2 major OR 1 major and 2 minor OR 4 minor Borderline: 1 major and 1 minor OR 3 minor Possible: 1 major OR 2 minor Diagnosis Criteria Modified Task Force Criteria for ARVC Jeffrey A. Towbin , 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy May 09, 2019DOI:https://doi.org/10.1016/j.hrthm.2019.05.007

20. 20 TF Criteria Jeffrey A. Towbin , 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy May 09, 2019DOI:https://doi.org/10.1016/j.hrthm.2019.05.007

21. 21 TF Criteria Jeffrey A. Towbin , 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy May 09, 2019DOI:https://doi.org/10.1016/j.hrthm.2019.05.007

22. 22

23. 23 Epsilon Wave Terminal activation duration Jeffrey A. Towbin , 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy May 09, 2019DOI:https://doi.org/10.1016/j.hrthm.2019.05.007

24. 24 PADUA Criteria D. Corrado et al. International Journal of Cardiology, 319 (2020) 106–114. Diagnosis of arrhythmogenic cardiomyopathy: The Padua criteria,

25. 25 PADUA Criteria

26. 26 PADUA Criteria D. Corrado et al. International Journal of Cardiology, 319 (2020) 106–114. Diagnosis of arrhythmogenic cardiomyopathy: The Padua criteria,

27. 27 D. Corrado et al. International Journal of Cardiology, 319 (2020) 106–114. Diagnosis of arrhythmogenic cardiomyopathy: The Padua criteria, PADUA Criteria

28. 28 Comparisions 1. Structural/functional criteria Regional akinesia/dyskinesia must be associated with quantitative measures 2. Tissue characterization CMR findings 3. Left ventricular involvement Major/minor criteria based on imaging and biopsy 4. Depolarization Epsilon is now minor criteria Stronger reliance on CMR and considering on LV involvement D. Corrado et al. International Journal of Cardiology, 319 (2020) 106–114. Diagnosis of arrhythmogenic cardiomyopathy: The Padua criteria,

29. 29 D. Corrado et al. International Journal of Cardiology, 319 (2020) 106–114. Diagnosis of arrhythmogenic cardiomyopathy: The Padua criteria,

30. 30 Which test to use Next-generation sequencing (NGS) How many gene Minimum set of genes SAGER Genetic Testing

31. 31

32. 32 FAMILY SCREENING RISK STRAFICATION 03

33. 33 Family screening

34. 34 ARVC risk calculator 1. Age 2. Sex 3. Number of Negative T waves 4. 24-h PVC burden 5. NSVT 6. <6 months cardiac syncope 7. RVEF from CMR Alessio Gasperetti , Arrhythmic risk stratification in arrhythmogenic right ventricular cardiomyopathy, EP Europace , Volume 25, Issue 11, November 2023, 1, 2, 5 year risk for Primary prevention: first VA All patients: fast sustained VA

35. 35

36. 36

37. 37

38. 38

39. 39

40. 40