Rational Pharmacotherapy in Cardiology

Advanced search


Full Text:


Infiltrative CardiovascularDiseases: Cardiomyopathies that look alike.

About the Authors

J.B. Seward

United States

G. Casclang-Verzosa

United States

N. S. Chipigina

Russian Federation


1. Appleton CP. Evaluation of diastolic function by two-dimensional and Doppler assessment of left ventricular filling including pulmonary venous flow. In: Klein AL, Garcia MJ, editors. Klein & Garcia Diastology: Clinical Approach to Diastolic Heart Failure. Philadelphia, PA: Saunders Elsevier, 2008:115– 43.

2. Oh JK, Seward JB, Tajik AJ. The Echo Manual. 3rd edition. Philadelphia, PA: Lippincott Williams & Wilkins, 2006.

3. Vohringer M, Mahrholdt H, Yilmaz A, Sechtem U. Significance of late gadolinium enhancement in cardiovascular magnetic resonance imaging (CMR). Herz 2007;32: 129 –37.

4. Rudolph A, Abdel-Aty H, Bohl S, et al. Noninvasive detection of fibrosis applying contrast-enhanced cardiac magnetic resonance in different forms of left ventricular hypertrophy relation to remodeling. J Am Coll Cardiol 2009;53:284 –91.

5. Chung WK. Predictive genetic testing for cardiomyopathies. Prog Pediatr Cardiol 2007;23:33–38.

6. Colombo MG, Botto N, Vittorini S, Paradossi U, Andreassi MG. Clinical utility of genetic tests for inherited hypertrophic and dilated cardiomyopathies. Cardiovasc Ultrasound 2008;6:62.

7. Gertz MA, Lacy MQ, Dispenzieri A. Amyloidosis: recognition, confirmation, prognosis, and therapy. Mayo Clin Proc 1999;74: 490–4.

8. Klein AL, Hatle LK, Burstow DJ, et al. Doppler characterization of left ventricular diastolic function in cardiac amyloidosis. J Am Coll Cardiol 1989;13:1017–26.

9. Bellavia D, Abraham TP, Pellikka PA, et al. Detection of left ventricular systolic dysfunction in cardiac amyloidosis with strain rate echocardiography. J Am Soc Echocardiogr 2007;20:1194 –202.

10. Carroll JD, Gaasch WH, McAdam KP. Amyloid cardiomyopathy: characterization by a distinctive voltage/mass relation. Am J Cardiol 1982;49:9 –13.

11. Rahman JE, Helou EF, Gelzer-Bell R, et al. Noninvasive diagnosis of biopsy-proven cardiac amyloidosis. J Am Coll Cardiol 2004;43:410 –5.

12. Kumar V, Abbas AK, Fausto N, Mitchell RN. Robbins Basic Pathology. 8th edition. Philadelphia, PA: Saunders Elsevier, 2007.

13. Kyle RA, Gertz MA, Greipp PR, et al. Long-term survival (10 years or more) in 30 patients with primary amyloidosis. Blood 1999;93: 1062–6.

14. Palladini G, Russo P, Nuvolone M, et al. Treatment with oral melphalan plus dexamethasone produces long-term remissions in AL amyloidosis. Blood 2007;110:787– 8.

15. Wechalekar AD, Goodman HJ, Lachmann HJ, Offer M, Hawkins PN, Gillmore JD. Safety and efficacy of risk-adapted cyclophosphamide, thalidomide, and dexamethasone in systemic AL amyloidosis. Blood 2007;109:457– 64.

16. Kastritis E, Anagnostopoulos A, Roussou M, et al. Treatment of light chain (AL) amyloidosis with the combination of bortezomib and dexamethasone. Haematologica 2007;92:1351– 8.

17. Comenzo RL, Gertz MA. Autologous stem cell transplantation for primary systemic amyloidosis. Blood 2002;99:4276–82.

18. Rajkumar SV, Gertz MA, Kyle RA, Greipp PR. Current therapy for multiple myeloma. Mayo Clin Proc 2002;77:813–22.

19. Gertz MA, Lacy MQ, Gastineau DA, et al. Blood stem cell transplantation as therapy for primary systemic amyloidosis (AL). Bone Marrow Transplant 2000;26:963–9.

20. Lacy MQ, Dispenzieri A, Hayman SR, et al. Autologous stem cell transplant after heart transplant for light chain (Al) amyloid cardiomyopathy. J Heart Lung Transplant 2008;27:823–9.

21. Maurer MS, Raina A, Hesdorffer C, et al. Cardiac transplantation using extended-donor criteria organs for systemic amyloidosis complicated by heart failure. Transplantation 2007;83:539–45.

22. Goldman ME, Cantor R, Schwartz MF, Baker M, Desnick RJ. Echocardiographic abnormalities and disease severity in Fabry’s disease. J Am Coll Cardiol 1986;7:1157– 61.

23. Nakao S, Takenaka T, Maeda M, et al. An atypical variant of Fabry’s disease in men with left ventricular hypertrophy. N Engl J Med 1995;333:288 –93.

24. Pieroni M, Chimenti C, De Cobelli F, et al. Fabry’s disease cardiomyopathy: echocardiographic detection of endomyocardial glycosphingolipid compartmentalization.J Am Coll Cardiol 2006;47:1663– 71.

25. Colucci WS, Lorell BH, Schoen FJ, Warhol MJ, Grossman W. Hypertrophic obstructive cardiomyopathy due to Fabry’s disease. N Engl J Med 1982;307:926–8.

26. Ommen SR, Nishimura RA, Edwards WD. Fabry disease: a mimic for obstructive hypertrophic cardiomyopathy? Heart 2003;89:929 –30.

27. Kounas S, Demetrescu C, Pantazis AA, et al. The binary endocardial appearance is a poor discriminator ofAnderson-Fabry disease from familial hypertrophic cardiomyopathy. JAm Coll Cardiol 2008;51: 2058–61.

28. De Cobelli F, Esposito A, Belloni E, et al. Delayed-enhanced cardiac MRI for differentiation of Fab￾ry’s disease from symmetric hypertrophic cardiomyopathy. AJR Am J Roentgenol 2009;192:W97– 102.

29. Pochis WT, Litzow JT, King BG, Kenny D. Electrophysiologic findings in Fabry’s disease with a short PR interval. Am J Cardiol 1994;74:203– 4.

30. Linhart A, Lubanda JC, Palecek T, et al. Cardiac manifestations in Fabry disease. J Inherit Metab Dis 2001;24 Suppl:75– 83.

31. Eng CM, Guffon N, Wilcox WR, et al. Safety and efficacy of recombinant human alpha-galactosidase A–replacement therapy in Fabry’s disease. N Engl J Med 2001;345:9 –16.

32. Arad M, Maron BJ, Gorham JM, et al. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Engl J Med 2005;352: 362–72.

33. Sugimoto S, Shiomi K, Yamamoto A, Nishino I, Nonaka I, Ohi T. LAMP-2 positive vacuolar myopathy with dilated cardiomyopathy. Intern Med 2007;46:757– 60.

34. Charron P, Villard E, Sebillon P, et al. Danon’s disease as a cause of hypertrophic cardiomyopathy: a systematic survey. Heart 2004;90: 842–6.

35. Sugie K, Yamamoto A, Murayama K, et al. Clinicopathological features of genetically confirmed Danon disease. Neurology 2002;58: 1773–8.

36. Piotrowska-Kownacka D, Kownacki L, Kuch M, et al. Cardiovascular magnetic resonance findings in a case of Danon disease. J Cardiovasc Magn Reson 2009;11:12.

37. Arad M, Benson DW, Perez-Atayde AR, et al. Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. J Clin Invest 2002;109:357– 62.

38. Arad M, Moskowitz IP, Patel VV, et al. Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy. Circulation 2003;107:2850–6.

39. Echaniz-Laguna A, Mohr M, Epailly E, et al. Novel Lamp-2 gene mutation and successful treatment with heart transplantation in a large family with Danon disease. Muscle Nerve 2006;33:393–7.

40. Durr A, Cossee M, Agid Y, et al. Clinical and genetic abnormalities in patients with Friedreich’s atax￾ia. N Engl J Med 1996;335:1169 –75.

41. Child JS, Perloff JK, Bach PM, Wolfe AD, Perlman S, Kark RA. Cardiac involvement in Friedreich’s ataxia: a clinical study of 75 patients. J Am Coll Cardiol 1986;7:1370–8.

42. Morvan D, Komajda M, Doan LD, et al. Cardiomyopathy in Friedreich’s ataxia: a Doppler-echocardiographic study. Eur Heart J 1992;13:1393– 8.

43. Dutka DP, Donnelly JE, Nihoyannopoulos P, Oakley CM, Nunez DJ. Marked variation in the cardiomyopathy associated with Friedreich’s ataxia. Heart 1999;81:141–7.

44. Alboliras ET, Shub C, Gomez MR, et al. Spectrum of cardiac involvement in Friedreich’s ataxia: clinical, electrocardiographic and echocardiographic observations. Am J Cardiol 1986;58:518 –24.

45. Leone M, Rocca WA, Rosso MG, Mantel N, Schoenberg BS, Schiffer D. Friedreich’s disease: survival analysis in an Italian population. Neurology 1988;38:1433– 8.

46. Boddaert N, Le Quan Sang KH, Rotig A, et al. Selective iron chelation in Friedreich ataxia: biologic and clinical implications. Blood 2007;110:401– 8.

47. Isnard R, Kalotka H, Durr A, et al. Correlation between left ventricular hypertrophy and GAA trinucleotide repeat length in Friedreich’s ataxia. Circulation 1997;95: 2247–9.

48. Gilbert EF. The effects of metabolic diseases on the cardiovascular system. Am J Cardiovasc Pathol 1987;1:189 –213.

49. Schulze MR, Wachter R, Schmeisser A, Fischer R, Strasser RH. Restrictive cardiomyopathy in a patient with primary hyperoxaluria type II. Clin Res Cardiol 2006;95:235– 40.

50. Palka P, Duhig E, Carey L, Galbraith A. Primary oxalosis with cardiac involvement: echocardiographic features of an unusual form of cardiomyopathy. Circulation 2001;103: E122–3.

51. Velez-Roa S, Depierreux M, Nortier J, Unger P. Cardiac oxalosis: a rare cause of diastolic dysfunction. Eur Heart J 2006;27:2496.

52. Detry O, Honore P, DeRoover A, et al. Reversal of oxalosis cardiomyopathy after combined liver and kidney transplantation. Transpl Int 2002;15:50 –2.

53. Schieken RM, Kerber RE, Ionasescu VV, Zellweger H. Cardiac manifestations of the mucopolysaccharidoses. Circulation 1975;52: 700–5.

54. Hamosh A. Online Mendelian Inheritance in Men. Baltimore, MD: Johns Hopkins University, 2004.

55. Wraith J. The mucopolysaccharidoses: a clinical review and guide to management. Arch Dis Child 1995;72:263–7.

56. Rigante D, Segni G. Cardiac structural involvement in mucopolysaccharidoses. Cardiology 2002;98:18 –20.

57. Dangel J. Cardiovascular changes in children with mucopolysaccharide storage diseases and related disorders— clinical and echocardiographic findings in 64 patients. Eur J Pediatr 1998;157:534– 8.

58. Butman SM, Karl L, Copeland JG. Combined aortic and mitral valve replacement in an adult with Scheie’s disease. Chest 1989;96:209 –10.

59. Kitabayashi K, Matsumiya G, Ichikawa H, Matsue H, Shimamura K, Sawa Y. Surgical treatment for mitral stenosis in Scheie’s syndrome: mucopolysaccharidosis type I-S. Ann Thorac Surg 2007;84:654 –5.

60. Gatzoulis M, Vellodi A, Redington A. Cardiac involvement in mucopolysaccharidoses: effects of allogeneic bone marrow transplantation. Arch Dis Child 1995;73:259–60.

61. Herskhovitz E, Yount E, Rainer J, et al. Bone marrow transplantation for Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI): long-term follow-up. J Inherit Metab Dis 1999;22:50–62.

62. Deng JC, Baughman RP, Lynch JP III. Cardiac involvement in sarcoidosis. Semin Respir Crit Care Med 2002;23:513–27.

63. Hourigan LA, Burstow DJ, Pohlner P, Clarke BE, Donnelly JE. Transesophageal echocardiographic abnormalities in a case of cardiac sarcoidosis. J Am Soc Echocardiogr 2001;14:399–402.

64. Silverman KJ, Hutchins GM, Bulkley BH. Cardiac sarcoid: a clinicopathologic study of 84 unselected patients with systemic sarcoidosis. Circulation 1978;58:1204 –11.

65. Yazaki Y, Isobe M, Hiramitsu S, et al. Comparison of clinical features and prognosis of cardiac sarcoidosis and idiopathic dilated cardiomyopathy. Am J Cardiol 1998;82: 537– 40.

66. Baughman RP. Pulmonary hypertension associated with sarcoidosis. Arthritis Res Ther 2007;9 Suppl:S8.

67. Shah L. Lung transplantation in sarcoidosis. Semin Respir Crit Care Med 2007;28: 134–40.

68. Doughan AR, Williams BR. Cardiac sarcoidosis. Heart 2006;92: 282–8.

69. Tadamura E, Yamamuro M, Kubo S, et al. Effectiveness of delayed enhanced MRI for identification of cardiac sarcoidosis: comparison with radionuclide imaging. AJR Am J Roentgenol 2005;185:110 –5.

70. Smedema JP, Snoep G, van Kroonenburgh MP, et al. Evaluation of the accuracy of gadolinium-enhanced cardiovascular magnetic resonance in the diagnosis of cardiac sarcoidosis. J Am Coll Cardi￾ol 2005;45:1683–90.

71. Wallace D, Lott MT, Procaccio V. Mitochondrial genes in degenerative disease, cancer and aging. In: Rimoin DL, Connor JM, Pyeritz RE, Korf BR, editors. Emery and Rimoin’s Principles and Practice of Medical Genetics. 5th edition. Philadelphia, PA: Churchill Livingston, 2007:194 –298.

72. Baughman RP, Costabel U, du Bois RM. Treatment of sarcoidosis. Clin Chest Med 2008;29:533– 48.

73. Hoffman GS, Kerr GS, Leavitt RY, et al. Wegener granulomatosis: an analysis of 158 patients. Ann Intern Med 1992;116:488 –98.

74. Oliveira GH, Seward JB, Tsang TS, Specks U. Echocardiographic findings in patients with Wegener granulomatosis. Mayo Clin Proc 2005;80:1435– 40.

75. Edwards NC, Ferro CJ, Townend JN, Steeds RP. Myocardial disease in systemic vasculitis and autoimmune disease detected by cardiovascular magnetic resonance. Rheumatology 2007;46:1208 –9.

76. Seo P, Min YI, Holbrook JT, et al. Damage caused by Wegener’s granulomatosis and its treatment: prospective data from the Wegener’s Granulomatosis Etanercept Trial (WGET). Arthritis Rheum 2005; 52:2168 –78.

77. Cheong B, Huber S, Muthupillai R, Flamm SD. Evaluation of myocardial iron overload by T2* cardiovascular magnetic resonance imaging. Tex Heart Inst J 2005;32:448–9.

78. Masci PG, Dymarkowski S, Bogaert J. The role of cardiovascular magnetic resonance in the diagnosis and management of cardiomyopathies. J Cardiovasc Med (Hagerstown) 2008;9:435– 49.

79. Hoffbrand AV. Diagnosing myocardial iron overload. Eur Heart J 2001;22:2140 –1.

80. Qaseem A, Aronson M, Fitterman N, Snow V, Weiss KB, Owens DK. Screening for hereditary hemochromatosis: a clinical practice guideline from the American College of Physicians. Ann Intern Med 2005;143:517–21.

81. Nishio M, Endo T, Nakao S, Sato N, Koike T. Reversible cardiomyopathy due to secondary hemochromatosis with multitransfusions for severe aplastic anemia after successful non-myeloablative stem cell transplantation. Int J Cardiol 2008;127:400 –1.

82. Blank R, Wolber T, Maeder M, Rickli H. Reversible cardiomyopathy in a patient with juvenile hemochromatosis. Int J Cardiol 2006;111: 161–2.

83. Alexander J, Kowdley KV. Hereditary hemochromatosis: genetics, pathogenesis, and clinical management. Ann Hepatol 2005;4:240 –7.

84. Ocel JJ, Edwards WD, Tazelaar HD, Petrovic LM, Edwards BS, Kamath PS. Heart and liver disease in 32 patients undergoing biopsy of both organs, with implications for heart or liver transplantation. Mayo Clin Proc 2004;79:492–501.

For citation:

Seward J., Casclang-Verzosa G., Chipigina N.S. INFILTRATIVE CARDIOVASCULARDISEASES: CARDIOMYOPATHIES THAT LOOK ALIKE. Rational Pharmacotherapy in Cardiology. 2010;6(5):722-732. (In Russ.)

Views: 729

Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.

ISSN 1819-6446 (Print)
ISSN 2225-3653 (Online)