Recent advances in microscopic diagnosis of cardiomyopathies

Česká verzia

Authors: Ondřej Fabián ¹; Cyril Štěchovský ²
Authors place of work: Ústav patologie a molekulární medicíny 2. LF UK a FN Motol, Praha ¹; Kardiologická klinika 2. LF UK a FN Motol, Praha ²
Published in the journal: Čes.-slov. Patol., 55, 2019, No. 4, p. 224-230
Category:

Summary

A substantial proportion of cardiomyopathies (CMP) harbour non-specific microscopic findings and the diagnosis is based on the clinical phenotype. Therefore a majority of dilated and hypertrophic CMP are encountered by a pathologist as explanted hearts or during autopsy. The indication for the endomyocardial biopsy usually follows clinical suspicion for infiltrative disease and plays an important role in paediatric patients, where the metabolic CMP are more frequent. Due to suggestive microscopic appearance of these diseases, a histopathological examination represents an important part of the diagnostic algorithm. The biopsy is relevant especially in case of restrictive CMP, because this disease is often caused by amyloid depositions. In case of hypertrophic CMP, the endomyocardial biopsy is considered usually in paediatric population since the majority of storage and mitochondrial disorders manifest hypertrophic phenotype. Diagnosis of dilated CMP is based on the clinical grounds and the main task for the pathologist is to rule out myocarditis.

Keywords:

immunohistochemistry – histopathology – endomyocardial biopsy – cardiomyopathy

Zdroje

1. Schwartz ML, Cox GF, Lin AE et al. Clinical approach to genetic cardiomyopathy in children. Circulation 1996; 94(8): 2021–2038.

2. Buja LM, Butany J. Cardiovascular Pathology (4th ed). United States: Academic Press; 2015: 437-445, 448, 458, 461-463, 469, 470, 477.

3. Finsterer J, Stöllberger C. The heart in human dystrophinopathies. Cardiology 2003; 99(1): 1-19.

4. Leone O, Veinot JP, Angelini A et al. 2011 consensus statement on endomyocardial biopsy from the Association for European Cardiovascular Pathology and the Society for Cardiovascular Pathology. Cardiovasc Pathol 2012; 21(4): 245-274.

5. McNally EM. New approaches in the therapy of cardiomyopathy in muscular dystrophy. Annu Rev Med 2007; 58: 75-88.

6. Chang KTE, Taylor GP, Meschino WS et al. Mitogenic cardiomyopathy: a lethal neonatal familial cardiomyopathy characterized by myocyte hyperplasia and proliferation. Hum Pathol 2010; 41(7): 1002–1008.

7. Shenje LK, Andersen P, Halushka MK et al. Mutations in Alström protein impair terminal differentiation in cardiomyocytes. Nat Commun 2014; 5: 3416.

8. Richardson P, McKenna W, Bristow M et al. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies. Circulation 1996; 93(5): 841-842.

9. Caforio AL, 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.

10. Chimenti C, Frustaci A. Histopathology of myocarditis. Diagnostic Histopathology 2008; 14(8): 401-407.

11. 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.

12. Maisch B, Portig I, Ristic A, Hufnagel G, Pankuweit S. Definition of inflammatory cardiomyopathy (myocarditis): on the way to consensus. A status report. Herz 2000; 25(3): 200-209.

13. Maron BJ, Towbin JA, Thiene G et al. Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation 2006; 113(14): 1807-1816.

14. Olivotto I, Girolami F, Ackerman MJ et al. Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy. Mayo Clin Proc 2008; 83(6): 630-638.

15. Klues HG, Roberts WC, Maron BJ. Anomalous insertion of papillary muscle directly into anterior mitral leaflet in hypertrophic cardiomyopathy. Significance in producing left ventricular outflow obstruction. Circulation 1991; 84(3): 1188-1197.

16. Basso C, Thiene G, Mackey-Bojack S, Frigo AC, Corrado D, Maron BJ. Myocardial bridging, a frequent component of the hypertrophic cardiomyopathy phenotype, lacks systematic association with sudden cardiac death. Eur Heart J 2009; 30(13): 1627-1634.

17. Sorajja P, Ommen SR, Nishimura RA, Gersh BJ, Tajik AJ, Holmes DR. Myocardial bridging in adult patients with hypertrophic cardiomyopathy. J Am Coll Cardiol 2003; 42(5): 889-894.

18. Shirani J, Pick R, Roberts WC, Maron BJ. Morphology and significance of the left ventricular collagen network in young patients with hypertrophic cardiomyopathy and sudden cardiac death. J Am Coll Cardiol 2000; 35(1): 36-44.

19. Khong TY, Malcombson RDG. Keelings Fetal and Neonatal Pathology (5th edn). Switzerland: Springer; 2015: 511.

20. Burke A, Tavola F. Practical Cardiovascular Pathology (Har/Psc ed). United States: Lippincott Williams & Wilkins; 2011: 163.

21. Lamke GT, Allen RD, Edwards WD, Tazelaar HD, Danielson GK. Surgical pathology of subaortic septal myectomy associated with hypertrophic cardiomyopathy. A study of 204 cases (1996-2000). Cardiovasc Pathol 2003; 12(3): 149-158.

22. Tazelaar HD, Billingham ME. The surgical pathology of hypertrophic cardiomyopathy. Arch Pathol Lab Med 1987; 111(3): 257-260.

23. Bates MG, Bourke JP, Giordano C, d’Amati G, Turnbull DM, Taylor RW. Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management. Eur Heart J 2012; 33(24): 3023-3033.

24. Giordano C, Perli E, Orlandi M et al. Cardiomyopathies due to homoplasmic mitochondrial tRNA mutations: morphologic and molecular features. Hum Pathol 2013; 44(7): 1262-1270.

25. Servidei S, Bertini E, DiMauro S. Hereditary metabolic cardiomyopathies. Adv Pediatr 1994; 41: 1–32.

26. Arad M, Moskowitz IP, Patel VV et al. Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. J Clin Invest 2002; 109(3): 357–362.

27. Arad M, Maron BJ, Gorham JM et al. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Engl J Med 2005; 352(4): 362–372.

28. Maron BJ, Roberts WC, Arad M. Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy. JAMA 2009; 301(12); 1253-1259.

29. O’Mahony C, Elliott P. Anderson-Fabry disease and the heart. Prog Cardiovasc Dis 2010; 52(4): 326-335.

30. Thurberg BL, Fallon JT, Mitchell R, Aretz T, Gordon RE, O’Callaghan MW. Cardiac microvascular pathology in Fabry disease: evaluation of endomyocardial biopsies before and after enzyme replacement therapy. Circulation 2009; 119(19): 2561-2567.

31. Marin-Garcia J, Ananthakrishnan R, Goldenthal MJ et al. Cardiac mitochondrial dysfunction and DNA depletion in children with hypertrophic cardiomyopathy. J Inherit Metab Dis 1997; 20(5): 674–679.

32. Marin-Garcia J, Goldenthal MJ. Mitochondrial cardiomyopathy: molecular and biochemical analysis. Pediatr Cardiol 1997; 18(4): 251–260.

33. Terman A, Brunk UT. Autophagy in cardiac myocyte homeostasis, aging and pathology. Cardiovasc Res 2005; 68(3): 355–365.

34. Taylor GP. Neonatal mitochondrial cardiomyopathy. Pediatr Dev Pathol 2004; 7(6): 620–624.

35. Kim UK, Kim HS, Oh BH et al. Analysis of mitochondrial DNA deletions in four chambers of failing human heart: hemodynamic stress, age, and disease are important factors. Basic Res Cardiol 2000; 95(2): 163-171.

36. Friedrich FW, Wilding BR, Reischmann S et al. Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy. Hum Mol Genet 2012; 21(14): 3237–3254.

37. Sreeram N, Kitchener D, Smith A. Spectrum of valvular abnormalities in Noonan’s syndrome – a pathologic study. Cardiol Young 1994; 4(1): 62–66.

38. McMahon JN, Berry PJ, Joffe HS. Fatal hypertrophic cardiomyopathy in an infant of a diabetic mother. Pediatr Cardiol 1990; 11(4): 211–212.

39. Israel BA, Sherman FS, Guthrie RD. Hypertrophic cardiomyopathy associated with dexamethasone therapy for chronic lung disease in preterm infants. Am J Perinatol 1993; 10(4): 307–310.

40. Kyle RA, Gertz MA. Primary systemic amyloidosis: clinical and laboratory features in 474 cases. Semin Hematol 1995; 32(1): 45-59.

41. Rapezzi C, Quarta CC, Obici L et al. Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective. Eur Heart J 2013; 34(7): 520-528.

42. Leone O, Longhi S, Quarta CC et al. New pathological insights into cardiac amyloidosis: implications for non-invasive diagnosis. Amyloid 2012; 19(2): 99-105.

43. Kapoor P, Thenappan T, Singh E, Kumar S, Greipp PR. Cardiac amyloidosis: a practical approach to diagnosis and management. Am J Med 2011; 124(11): 1006-1015.

44. Otten E, Asimaki A, Maass A et al. Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks. Heart Rhythm 2010; 7(8): 1058–1064.

45. Olivé M, Kley RA, Goldfarb LG. Myofibrillar myopathies: new developments. Curr Opin Neurol 2013; 26(5): 527-535.

46. Kostera-Pruszczyk A, Pruszczyk P, Kaminska A et al. Diversity of cardiomyopathy phenotypes caused by mutations in desmin. Int J Cardiol 2008; 131: 146-147.

47. Selcen D, Ohno K, Engel AG. Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients. Brain 2004; 127(Pt 2): 439–451.

48. Schröder R, Schoser B. Myofibrillar myopathies: a clinical and myopathological guide. Brain Pathol 2009; 19(3): 483-492.

49. Arbustini E, Pasotti M, Pilotto A et al. Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects. Eur J Heart Fail 2006; 8(5): 477-483.

50. Ogbogu PU, Rosing DR, Horne 3rd MK. Cardiovascular manifestations of hypereosinophilic syndromes. Immunol Allergy Clin N Am 2007; 27: 457-475.

51. Arnold M, McGuire L, Lee JC. Loeffler’s fibroplastic endocarditis. Pathology 1988; 20(1): 79-82.

52. Fauci AS, Harley JB, Roberts WC et al. NIH conference. The idiopathic hypereosinophilic syndrome. Clinical, pathophysiologic, and therapeutic considerations. Ann Intern Med 1982; 97(1): 78–92.

53. Iglezias SD, Benvenuti LA, Calabrese F et al. Endomyocardial fibrosis: pathological and molecular findings of surgically resected ventricular endomyocardium. Virchows Arch 2008; 453(3): 233-241.

54. Wood JC. Cardiac iron across different transfusion-dependent diseases. Blood Rev 2008; 22 (Suppl 2): 14-21.

55. Basso C, Bauce B, Corrado D, Thiene G. Pathophysiology of arrhythmogenic cardiomyopathy. Nat Rev Cardiol 2012; 9(4): 223-233.

56. Basso C, Corrado D, Marcus FI et al. Arrhythmogenic right ventricular cardiomyopathy. Lancet 2009; 373(9671): 1289-1300.

57. Pilichou K, Remme CA, Basso C et al. Myocyte necrosis underlies progressive myocardial dystrophy in mouse dsg2-related arrhythmogenic right ventricular cardiomyopathy. J Exp Med 2009; 206(8): 1787-1802.

58. D’Amati G, Leone O, diGioia CR et al. Arrhythmogenic right ventricular cardiomyopathy: clinicopathologic correlation based on a revised definition of pathologic patterns. Hum Pathol 2001; 32(10): 1078–1086.

59. Marcus FI, McKenna WJ, Sherrill D et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria. Eur Heart J 2010; 31(7): 806-814.

60. Tandri H, Saranathan M, Rodriguez ER et al. Noninvasive detection of myocardial fibrosis in arrhythmogenic right ventricular cardiomyopathy using delayed-enhancement magnetic resonance imaging. J Am Coll Cardiol 2005; 45(1): 98-103.

61. Asimaki A, Tandri H, Huang H et al. A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy. N Engl J Med 2009; 360(11): 1075-1084.

62. Burke A, Mont E, Kutys R, Virmani R. Left ventricular noncompaction: a pathological study of 14 cases. Hum Pathol 2005; 36(4): 403-411.

63. Sarma RJ, Chana A, Elkayam U. Left ventricular noncompaction. Prog Cardiovasc Dis 2010; 52(4): 264-273.

64. Malhotra V, Ferrans VJ, Virmani R. Infantile histiocytoid cardiomyopathy: three cases and literature review. Am Heart J 1994; 128(5): 1009–1021.

65. Wybraniec M, Mizia-Stec K, Krzych L. Stress cardiomyopathy: yet another type of neurocardiogenic injury: ‘stress cardiomyopathy’. Cardiovasc Pathol 2014; 23(3): 113-120.