Pediatric Restrictive Cardiomyopathy Differential Diagnoses

  • Author: Kimberly Y Lin, MD; Chief Editor: Stuart Berger, MD   more...
 
Updated: Aug 26, 2011
 
 

Diagnostic Considerations

The main differential diagnosis for restrictive cardiomyopathy (RCM) is constrictive pericarditis (CP). Differentiating the 2 conditions can be difficult, particularly in children who have received anthracycline drugs and thoracic radiation as cancer therapy. Cardiac catheterization and Doppler echocardiography are generally able to distinguish between RCM and CP, although both are characterized by abnormal diastolic ventricular filling and elevated ventricular end-diastolic pressures.[26] Cardiac magnetic resonance imaging may also be helpful if stigmata of constrictive pericardial disease are present.

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Contributor Information and Disclosures
Author

Kimberly Y Lin, MD  Assistant Professor, Division of Cardiology, Section of Cardiomyopathy and Heart Transplantation, The Children's Hospital of Philadelphia

Kimberly Y Lin, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American College of Physicians, and Phi Beta Kappa

Disclosure: Nothing to disclose.

Coauthor(s)

Robert E Shaddy, MD  Professor of Pediatrics, University of Pennsylvania School of Medicine; Division Chief of Pediatric Cardiology, Children's Hospital of Philadelphia

Robert E Shaddy, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American Heart Association, American Medical Association, International Society for Heart and Lung Transplantation, Phi Beta Kappa, Society for Pediatric Research, and Western Society for Pediatric Research

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Ameeta Martin, MD  Clinical Associate Professor, Department of Pediatric Cardiology, University of Nebraska College of Medicine

Ameeta Martin, MD is a member of the following medical societies: American College of Cardiology

Disclosure: Nothing to disclose.

Chief Editor

Stuart Berger, MD  Professor of Pediatrics, Division of Cardiology, Medical College of Wisconsin; Chief of Pediatric Cardiology, Medical Director of Pediatric Heart Transplant Program, Medical Director of The Heart Center, Children's Hospital of Wisconsin

Stuart Berger, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American College of Chest Physicians, American Heart Association, and Society for Cardiac Angiography and Interventions

Disclosure: Nothing to disclose.

References

  1. Richardson P, McKenna W, Bristow M, Maisch B, Mautner B, O'Connell J. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies. Circulation. Mar 1 1996;93(5):841-2. [Medline].

  2. Angelini A, Calzolari V, Thiene G, et al. Morphologic spectrum of primary restrictive cardiomyopathy. Am J Cardiol. Oct 15 1997;80(8):1046-50. [Medline].

  3. Hirota Y, Shimizu G, Kita Y, et al. Spectrum of restrictive cardiomyopathy: report of the national survey in Japan. Am Heart J. Jul 1990;120(1):188-94. [Medline].

  4. Kushwaha SS, Fallon JT, Fuster V. Restrictive cardiomyopathy. N Engl J Med. Jan 23 1997;336(4):267-76. [Medline].

  5. Mocumbi AO, Yacoub S, Yacoub MH. Neglected tropical cardiomyopathies: II. Endomyocardial fibrosis: myocardial disease. Heart. Mar 2008;94(3):384-90. [Medline].

  6. Peddy SB, Vricella LA, Crosson JE, et al. Infantile restrictive cardiomyopathy resulting from a mutation in the cardiac troponin T gene. Pediatrics. May 2006;117(5):1830-3. [Medline].

  7. Mogensen J, Kubo T, Duque M, et al. Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. J Clin Invest. Jan 2003;111(2):209-16. [Medline].

  8. Kaski JP, Syrris P, Burch M, et al. Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes. Heart. Nov 2008;94(11):1478-84. [Medline].

  9. Ware SM, Quinn ME, Ballard ET, Miller E, Uzark K, Spicer RL. Pediatric restrictive cardiomyopathy associated with a mutation in beta-myosin heavy chain. Clin Genet. Feb 2008;73(2):165-70. [Medline].

  10. Goldfarb LG, Park KY, Cervenakova L, et al. Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nat Genet. Aug 1998;19(4):402-3. [Medline].

  11. Pruszczyk P, Kostera-Pruszczyk A, Shatunov A, et al. Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation. Int J Cardiol. Apr 25 2007;117(2):244-53. [Medline].

  12. Dalakas MC, Park KY, Semino-Mora C, et al. Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. N Engl J Med. Mar 16 2000;342(11):770-80. [Medline].

  13. Sanna T, Dello Russo A, Toniolo D, et al. Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations. Eur Heart J. Dec 2003;24(24):2227-36. [Medline].

  14. Imamura T, Nakazato M, Date Y, et al. Cardiac amyloidosis associated with a novel transthyretin aspartic acid-18 glutamic acid de novo mutation. Circ J. Nov 2003;67(11):965-8. [Medline].

  15. Facher JJ, Regier EJ, Jacobs GH, et al. Cardiomyopathy in Coffin-Lowry syndrome. Am J Med Genet A. Jul 15 2004;128(2):176-8. [Medline].

  16. Denfield SW, Rosenthal G, Gajarski RJ, et al. Restrictive cardiomyopathies in childhood. Etiologies and natural history. Tex Heart Inst J. 1997;24(1):38-44. [Medline].

  17. Lipshultz SE, Sleeper LA, Towbin JA, et al. The incidence of pediatric cardiomyopathy in two regions of the United States. N Engl J Med. Apr 24 2003;348(17):1647-55. [Medline].

  18. Russo LM, Webber SA. Idiopathic restrictive cardiomyopathy in children. Heart. Sep 2005;91(9):1199-202. [Medline]. [Full Text].

  19. Nugent AW, Daubeney PE, Chondros P, et al. The epidemiology of childhood cardiomyopathy in Australia. N Engl J Med. Apr 24 2003;348(17):1639-46. [Medline].

  20. Malcic I, Jelusic M, Kniewald H, Barisic N, Jelasic D, Bozikov J. Epidemiology of cardiomyopathies in children and adolescents: a retrospective study over the last 10 years. Cardiol Young. May 2002;12(3):253-9. [Medline].

  21. Bukhman G, Ziegler J, Parry E. Endomyocardial fibrosis: still a mystery after 60 years. PLoS Negl Trop Dis. 2008;2(2):e97. [Medline].

  22. Mocumbi AO, Ferreira MB, Sidi D, Yacoub MH. A population study of endomyocardial fibrosis in a rural area of Mozambique. N Engl J Med. Jul 3 2008;359(1):43-9. [Medline].

  23. Cetta F, O'Leary PW, Seward JB, Driscoll DJ. Idiopathic restrictive cardiomyopathy in childhood: diagnostic features and clinical course. Mayo Clin Proc. Jul 1995;70(7):634-40. [Medline].

  24. Lewis AB. Clinical profile and outcome of restrictive cardiomyopathy in children. Am Heart J. Jun 1992;123(6):1589-93. [Medline].

  25. Arbustini E, Pasotti M, Pilotto A, Pellegrini C, Grasso M, Previtali S. Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects. Eur J Heart Fail. Aug 2006;8(5):477-83. [Medline].

  26. Vaitkus PT, Kussmaul WG. Constrictive pericarditis versus restrictive cardiomyopathy: a reappraisal and update of diagnostic criteria. Am Heart J. Nov 1991;122(5):1431-41. [Medline].

  27. Choi EY, Ha JW, Kim JM, et al. Incremental value of combining systolic mitral annular velocity and time difference between mitral inflow and diastolic mitral annular velocity to early diastolic annular velocity for differentiating constrictive pericarditis from restrictive cardiomyopathy. J Am Soc Echocardiogr. Jun 2007;20(6):738-43. [Medline].

  28. Friedberg MK, Silverman NH. The systolic to diastolic duration ratio in children with heart failure secondary to restrictive cardiomyopathy. J Am Soc Echocardiogr. Nov 2006;19(11):1326-31. [Medline].

  29. Hatle LK, Appleton CP, Popp RL. Differentiation of constrictive pericarditis and restrictive cardiomyopathy by Doppler echocardiography. Circulation. Feb 1989;79(2):357-70. [Medline].

  30. Rivenes SM, Kearney DL, Smith EO, Towbin JA, Denfield SW. Sudden death and cardiovascular collapse in children with restrictive cardiomyopathy. Circulation. Aug 22 2000;102(8):876-82. [Medline]. [Full Text].

  31. Talreja DR, Nishimura RA, Oh JK, Holmes DR. Constrictive pericarditis in the modern era: novel criteria for diagnosis in the cardiac catheterization laboratory. J Am Coll Cardiol. Jan 22 2008;51(3):315-9. [Medline].

  32. Yoshizato T, Edwards WD, Alboliras ET, et al. Safety and utility of endomyocardial biopsy in infants, children and adolescents: a review of 66 procedures in 53 patients. J Am Coll Cardiol. Feb 1990;15(2):436-42. [Medline].

  33. [Guideline] Cooper LT, Baughman KL, Feldman AM, et al. The role of endomyocardial biopsy in the management of cardiovascular disease: a scientific statement from the American Heart Association, the American College of Cardiology, and the European Society of Cardiology. Circulation. Nov 6 2007;116(19):2216-33. [Medline].

  34. Maron BJ, Ackerman MJ, Nishimura RA, Pyeritz RE, Towbin JA, Udelson JE. Task Force 4: HCM and other cardiomyopathies, mitral valve prolapse, myocarditis, and Marfan syndrome. J Am Coll Cardiol. Apr 19 2005;45(8):1340-5. [Medline].

  35. Weller RJ, Weintraub R, Addonizio LJ, et al. Outcome of idiopathic restrictive cardiomyopathy in children. Am J Cardiol. Sep 1 2002;90(5):501-6. [Medline].

  36. Bengur AR, Beekman RH, Rocchini AP. Acute hemodynamic effects of captopril in children with a congestive or restrictive cardiomyopathy. Circulation. Feb 1991;83(2):523-7. [Medline].

  37. Shaddy RE. Pulmonary hypertension in pediatric heart transplantation. Prog Pediatr Cardiol. Jun 1 2000;11(2):131-136. [Medline].

  38. Towbin JA. Cardiomyopathy and heart transplantation in children. Curr Opin Cardiol. May 2002;17(3):274-9. [Medline].

  39. Fenton MJ, Chubb H, McMahon AM, et al. Heart and heart-lung transplantation for idiopathic restrictive cardiomyopathy in children. Heart. Jan 2006;92(1):85-9. [Medline].

  40. Kimberling MT, Balzer DT, Hirsch R, Mendeloff E, Huddleston CB, Canter CE. Cardiac transplantation for pediatric restrictive cardiomyopathy: presentation, evaluation, and short-term outcome. J Heart Lung Transplant. Apr 2002;21(4):455-9. [Medline].

  41. Bograd AJ, Mital S, Schwarzenberger JC, Mosca RS, Quaegebeur JM, Addonizio LJ. Twenty-year experience with heart transplantation for infants and children with restrictive cardiomyopathy: 1986-2006. Am J Transplant. Jan 2008;8(1):201-7. [Medline].

  42. Al-Khaldi A, Reitz BA, Zhu H, Rosenthal D. Heterotopic heart transplant combined with postoperative Sildenafil use for the treatment of restrictive cardiomyopathy. Ann Thorac Surg. Apr 2006;81(4):1505-7. [Medline].

 
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Echocardiographic 4-chamber view of a child with restrictive cardiomyopathy demonstrating characteristic marked enlargement of right atrium (RA) and left atrium (LA), which are larger than left ventricle (LV).
 
 
 
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