Close
New

Medscape is available in 5 Language Editions – Choose your Edition here.

 

Pediatric Restrictive Cardiomyopathy Workup

  • Author: Kimberly Y Lin, MD; Chief Editor: P Syamasundar Rao, MD  more...
 
Updated: Dec 27, 2015
 

Approach Considerations

Laboratory studies generally do not contribute to the diagnosis of restrictive cardiomyopathy (RCM). Echocardiography is often diagnostic and is very useful in distinguishing RCM from constrictive pericarditis (CP); cardiac computed tomography (CT) or magnetic resonance imaging (MRI) may also be a helpful adjunct in this respect. Cardiac catheterization is generally indicated to assess hemodynamics. Electrocardiography (ECG) usually reveals abnormalities. Endomyocardial biopsy may reveal a specific cause but appears to be much more helpful in adults than in children.

Next

Echocardiography

Echocardiography is often diagnostic of RCM. Results usually include marked atrial enlargement with normal left ventricular end-diastolic dimensions (see the image below). Ventricular hypertrophy and atrioventricular valve dysfunction may also be present. Atrial thrombi and pulmonary vein atrial flow reversal duration that exceeds mitral a wave duration have also been described.

Echocardiographic 4-chamber view of a child with rEchocardiographic 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).

Echocardiography can be very useful in distinguishing RCM from CP.[31, 32] For example, echocardiographic evidence of minimal respiratory variation in Doppler ventricular inflow signals is observed in patients with RCM; in comparison, significant respiratory variation is observed in patients with CP.[33] Prolongation of the systole-to-diastole ratio is observed in pediatric RCM, although this abnormality is also found in children with dilated cardiomyopathy. Mid-diastolic reversal of flow across mitral and tricuspid valves is also more common in RCM.

Unfortunately, Doppler echocardiographic findings still show overlap between RCM and CP. Echocardiography may reveal a thickened pericardium in patients with CP.

Previous
Next

Electrocardiography

ECG usually reveals evidence of atrial enlargement and ST-T wave changes. Infiltrative diseases can have low voltage changes. An arrhythmia (eg, atrial fibrillation) may be present. Familial RCM can be associated with atrioventricular block.

Because of risk of sudden deterioration and death, some investigators recommend serial ECG and Holter monitoring to observe for evidence of ischemia and arrhythmia.[34]

Previous
Next

Cardiac Catheterization

Pulmonary artery pressures are usually elevated. Right and left ventricular end-diastolic pressures are elevated, and the 2 ventricular end-diastolic pressures are generally discordant, with left ventricular end-diastolic pressure usually being significantly higher (>5 mm Hg) than right ventricular end-diastolic pressure.

The systolic area index, which uses the ratio of right-to-left ventricular systolic pressure-time area during inspiration and expiration as measured during cardiac catheterization, has also been proposed as a means of differentiating between RCM and CP.[35]

Previous
Next

Other Studies

On chest radiography, heart size is usually increased, often with evidence of right or left atrial enlargement. Pulmonary venous congestion is often evident.

Computed tomography (CT) and magnetic resonance imaging (MRI) may be useful for assessing pericardial thickness in patients for whom CP is in the differential diagnosis.

Previous
Next

Tissue Analysis and Histologic Findings

Endomyocardial biopsy may reveal a specific cause but appears to be much more helpful in adults than in children. Thus, indications must be individualized and balanced with the risks of the procedure.[36] Guidelines for the role of endomyocardial biopsy in the management of cardiovascular disease have been proposed.[37]

Findings from biopsy or autopsy are usually abnormal but are not necessarily diagnostic. Varying degrees of myocyte hypertrophy, interstitial fibrosis, myocytolysis, and endocardial sclerosis have been found. In those patients (usually adults) with an infiltrative cause, such as amyloidosis, biopsy findings may be diagnostic.

Previous
 
 
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, 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, Phi Beta Kappa, Society for Pediatric Research, Western Society for Pediatric Research, International Society for Heart and Lung Transplantation

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

P Syamasundar Rao, MD Professor of Pediatrics and Medicine, Division of Cardiology, Emeritus Chief of Pediatric Cardiology, University of Texas Medical School at Houston and Children's Memorial Hermann Hospital

P Syamasundar Rao, MD is a member of the following medical societies: American Academy of Pediatrics, American Pediatric Society, American College of Cardiology, American Heart Association, Society for Cardiovascular Angiography and Interventions, Society for Pediatric Research

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. 1996 Mar 1. 93(5):841-2. [Medline].

  2. Angelini A, Calzolari V, Thiene G, et al. Morphologic spectrum of primary restrictive cardiomyopathy. Am J Cardiol. 1997 Oct 15. 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. 1990 Jul. 120(1):188-94. [Medline].

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

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

  6. Webber SA, Lipshultz SE, Sleeper LA, Lu M, Wilkinson JD, Addonizio LJ, et al. Outcomes of restrictive cardiomyopathy in childhood and the influence of phenotype: a report from the Pediatric Cardiomyopathy Registry. Circulation. 2012 Sep 4. 126(10):1237-44. [Medline].

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

  8. 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. 2003 Jan. 111(2):209-16. [Medline].

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

  10. 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. 2008 Feb. 73(2):165-70. [Medline].

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

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

  13. 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. 2000 Mar 16. 342(11):770-80. [Medline].

  14. Walsh MA, Grenier MA, Jefferies JL, Towbin JA, Lorts A, Czosek RJ. Conduction abnormalities in pediatric patients with restrictive cardiomyopathy. Circ Heart Fail. 2012 Mar 1. 5(2):267-73. [Medline].

  15. Brodehl A, Ferrier RA, Hamilton SJ, et al, for the FORGE Canada Consortium. Mutations in FLNC are associated with familial restrictive cardiomyopathy. Hum Mutat. 2015 Dec 15. [Medline].

  16. Wu W, Lu CX, Wang YN, et al. Novel phenotype-genotype correlations of restrictive cardiomyopathy with myosin-binding protein C (MYBPC3) gene mutations tested by next-generation sequencing. J Am Heart Assoc. 2015 Jul 10. 4 (7):[Medline].

  17. 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. 2003 Dec. 24(24):2227-36. [Medline].

  18. 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. 2003 Nov. 67(11):965-8. [Medline].

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

  20. 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].

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

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

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

  24. 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. 2002 May. 12(3):253-9. [Medline].

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

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

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

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

  29. 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. 2006 Aug. 8(5):477-83. [Medline].

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

  31. 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. 2007 Jun. 20(6):738-43. [Medline].

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

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

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

  35. 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. 2008 Jan 22. 51(3):315-9. [Medline].

  36. 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. 1990 Feb. 15(2):436-42. [Medline].

  37. [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. 2007 Nov 6. 116(19):2216-33. [Medline].

  38. Murtuza B, Fenton M, Burch M, Gupta A, Muthialu N, Elliott MJ, et al. Pediatric heart transplantation for congenital and restrictive cardiomyopathy. Ann Thorac Surg. 2013 May. 95(5):1675-84. [Medline].

  39. 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. 2005 Apr 19. 45(8):1340-5. [Medline].

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

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

  42. Horibata Y, Murakami T, Niwa K. Effect of the oral vasopressin receptor antagonist tolvaptan on congestive cardiac failure in a child with restrictive cardiomyopathy. Cardiol Young. 2014 Feb. 24 (1):155-7. [Medline].

  43. Zhang L, Nan C, Chen Y, et al. Calcium desensitizer catechin reverses diastolic dysfunction in mice with restrictive cardiomyopathy. Arch Biochem Biophys. 2015 May 1. 573:69-76. [Medline].

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

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

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

  47. 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. 2002 Apr. 21(4):455-9. [Medline].

  48. 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. 2008 Jan. 8(1):201-7. [Medline].

  49. 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. 2006 Apr. 81(4):1505-7. [Medline].

  50. Rao PS. Static balloon dilatation of the atrial septum. Am Heart J. 1993 Jun. 125 (6):1824-7. [Medline].

  51. Haas NA, Laser KT, Bach S, Kantzis M, Happel CM, Fischer M. Decompressive atrioseptostomy (DAS) for the treatment of severe pulmonary hypertension secondary to restrictive cardiomyopathy. Int J Cardiol. 2016 Jan 15. 203:845-7. [Medline].

  52. Topilsky Y, Pereira NL, Shah DK, et al. Left ventricular assist device therapy in patients with restrictive and hypertrophic cardiomyopathy. Circ Heart Fail. 2011 May. 4 (3):266-75. [Medline].

  53. Tunuguntla H, Denfield SW, McKenzie ED, Adachi I. Mitral valve replacement for inflow obstruction of left ventricular assist device in a child with restrictive cardiomyopathy. J Thorac Cardiovasc Surg. 2016 Jan. 151 (1):e11-3. [Medline].

  54. Jaquiss RD. Ventricular assistant in restrictive cardiomyopathy: Making the right connection. J Thorac Cardiovasc Surg. 2016 Jan. 151 (1):e15-6. [Medline].

Previous
Next
 
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).
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.