Pediatric Dilated Cardiomyopathy Differential Diagnoses

  • Author: Poothirikovil Venugopalan, MBBS, MD, FRCP(Glasg), FRCPCH; more...
 
Updated: Feb 13, 2012
 
 

Differential Diagnoses

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Contributor Information and Disclosures
Author

Poothirikovil Venugopalan, MBBS, MD, FRCP(Glasg), FRCPCH,  Consulting Staff, Department of Child Health, University Hospital of North Tees and Hartlepool, UK

Poothirikovil Venugopalan, MBBS, MD, FRCP(Glasg), FRCPCH, is a member of the following medical societies: British Cardiac Society, Paediatrician with Cardiology Expertise Special Interest Group, Royal College of Paediatrics and Child Health, and Royal College of Physicians and Surgeons of Glasgow

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.

References

  1. Akagi T, Benson LN, Lightfoot NE, et al. Natural history of dilated cardiomyopathy in children. Am Heart J. May 1991;121(5):1502-6. [Medline].

  2. [Best Evidence] Andrews RE, Fenton MJ, Ridout DA, Burch M. New-onset heart failure due to heart muscle disease in childhood: a prospective study in the United kingdom and Ireland. Circulation. Jan 1 2008;117(1):79-84. [Medline].

  3. Arola A, Tuominen J, Ruuskanen O, Jokinen E. Idiopathic dilated cardiomyopathy in children: prognostic indicators and outcome. Pediatrics. Mar 1998;101(3 Pt 1):369-76. [Medline].

  4. Blauwet LA, Cooper LT. Myocarditis. Prog Cardiovasc Dis. Jan-Feb 2010;52(4):274-88. [Medline].

  5. Bowles NE, Ni J, Kearney DL, et al. Detection of viruses in myocardial tissues by polymerase chain reaction. evidence of adenovirus as a common cause of myocarditis in children and adults. J Am Coll Cardiol. Aug 6 2003;42(3):466-72. [Medline].

  6. Breinholt JP, Fraser CD, Dreyer WJ, et al. The efficacy of mitral valve surgery in children with dilated cardiomyopathy and severe mitral regurgitation. Pediatr Cardiol. Jan 2008;29(1):13-8. [Medline].

  7. Cheitlin MD, Armstrong WF, Aurigemma GP, Beller GA, Bierman FZ, Davis JL. ACC/AHA/ASE 2003 guideline update for the clinical application of echocardiography: summary article: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (ACC/AHA/ASE Committee to Update the 1997 Guidelines for the Clinical Application of Echocardiography). Circulation. Sep 2 2003;108(9):1146-62. [Medline].

  8. Chen C, Heusch A, Donner B, Janssen G, Göbel U, Schmidt KG. Present risk of anthracycline or radiation-induced cardiac sequelae following therapy of malignancies in children and adolescents. Klin Padiatr. May-Jun 2009;221(3):162-6. [Medline].

  9. Chen SC, Nouri S, Balfour I, Jureidini S, Appleton RS. Clinical profile of congestive cardiomyopathy in children. J Am Coll Cardiol. Jan 1990;15(1):189-93. [Medline].

  10. Connuck DM, Sleeper LA, Colan SD, et al. Characteristics and outcomes of cardiomyopathy in children with Duchenne or Becker muscular dystrophy: a comparative study from the Pediatric Cardiomyopathy Registry. Am Heart J. Jun 2008;155(6):998-1005. [Medline].

  11. Dimas VV, Denfield SW, Friedman RA, Cannon BC, Kim JJ, Smith EO, et al. Frequency of cardiac death in children with idiopathic dilated cardiomyopathy. Am J Cardiol. Dec 1 2009;104(11):1574-7. [Medline].

  12. Friedberg MK, Roche SL, Balasingam M, et al. Evaluation of mechanical dyssynchrony in children with idiopathic dilated cardiomyopathy and associated clinical outcomes. Am J Cardiol. Apr 15 2008;101(8):1191-5. [Medline].

  13. Fujioka S, Kitaura Y, Ukimura A, et al. Evaluation of viral infection in the myocardium of patients with idiopathic dilated cardiomyopathy. J Am Coll Cardiol. Nov 15 2000;36(6):1920-6. [Medline].

  14. Griffin ML, Hernandez A, Martin TC, et al. Dilated cardiomyopathy in infants and children. J Am Coll Cardiol. Jan 1988;11(1):139-44. [Medline].

  15. Hershberger RE, Lindenfeld J, Mestroni L, Seidman CE, Taylor MR, Towbin JA. Genetic evaluation of cardiomyopathy--a Heart Failure Society of America practice guideline. J Card Fail. Mar 2009;15(2):83-97. [Medline].

  16. Janousek J, Gebauer RA. Cardiac resynchronization therapy in pediatric and congenital heart disease. Pacing Clin Electrophysiol. Feb 2008;31 Suppl 1:S21-3. [Medline].

  17. John JB, Cron SG, Kung GC, Mott AR. Intracardiac thrombi in pediatric patients: presentation profiles and clinical outcomes. Pediatr Cardiol. May-Jun 2007;28(3):213-20. [Medline].

  18. Pahl E, Sleeper LA, Canter CE, et al. Incidence of and risk factors for sudden cardiac death in children with dilated cardiomyopathy a report from the pediatric cardiomyopathy registry. J Am Coll Cardiol. Feb 7 2012;59(6):607-15. [Medline].

  19. Kaushal S, Jacobs JP, Gossett JG, Steele A, Steele P, Davis CR, et al. Innovation in basic science: stem cells and their role in the treatment of paediatric cardiac failure--opportunities and challenges. Cardiol Young. Nov 2009;19 Suppl 2:74-84. [Medline].

  20. Kimura A. Molecular etiology and pathogenesis of hereditary cardiomyopathy. Circ J. 2008;72 Suppl A:A38-48. [Medline].

  21. Kovacevic-Preradovic T, Jenni R, Oechslin EN, Noll G, Seifert B, Attenhofer Jost CH. Isolated left ventricular noncompaction as a cause for heart failure and heart transplantation: a single center experience. Cardiology. 2009;112(2):158-64. [Medline].

  22. Labombarda F, Blanc J, Pellissier A, Stos B, Gaillard C, Bajolle F, et al. Health-e-Child project: mechanical dyssynchrony in children with dilated cardiomyopathy. J Am Soc Echocardiogr. Nov 2009;22(11):1289-95. [Medline].

  23. Liu W, Li WM, Sun NL. Relationship between HLA-DQA1 polymorphism and genetic susceptibility to idiopathic dilated cardiomyopathy. Chin Med J (Engl). Oct 2004;117(10):1449-52. [Medline].

  24. Malaisrie SC, Pelletier MP, Yun JJ, et al. Pneumatic paracorporeal ventricular assist device in infants and children: initial Stanford experience. J Heart Lung Transplant. Feb 2008;27(2):173-7. [Medline].

  25. McMahon CJ, Pignatelli RH, Nagueh SF, et al. Left ventricular non-compaction cardiomyopathy in children: characterisation of clinical status using tissue Doppler-derived indices of left ventricular diastolic relaxation. Heart. Jun 2007;93(6):676-81. [Medline].

  26. Michels VV, Driscoll DJ, Miller FA, et al. Progression of familial and non-familial dilated cardiomyopathy: long term follow up. Heart. Jul 2003;89(7):757-61. [Medline].

  27. Michels VV, Olson TM, Miller FA, et al. Frequency of development of idiopathic dilated cardiomyopathy among relatives of patients with idiopathic dilated cardiomyopathy. Am J Cardiol. Jun 1 2003;91(11):1389-92. [Medline].

  28. Morales DL, Dreyer WJ, Denfield SW, et al. Over two decades of pediatric heart transplantation: how has survival changed?. J Thorac Cardiovasc Surg. Mar 2007;133(3):632-9. [Medline].

  29. Norkiene I, Ringaitiene D, Rucinskas K, et al. Intra-aortic balloon counterpulsation in decompensated cardiomyopathy patients: bridge to transplantation or assist device. Interact Cardiovasc Thorac Surg. Feb 2007;6(1):66-70. [Medline].

  30. Rhee EK, Canter CE, Basile S, Webber SA, Naftel DC. Sudden death prior to pediatric heart transplantation: would implantable defibrillators improve outcome?. J Heart Lung Transplant. May 2007;26(5):447-52. [Medline].

  31. Senes M, Erbay AR, Yilmaz FM, et al. Coenzyme Q10 and high-sensitivity C-reactive protein in ischemic and idiopathic dilated cardiomyopathy. Clin Chem Lab Med. 2008;46(3):382-6. [Medline].

  32. Shaddy RE, Boucek MM, Hsu DT, et al. Carvedilol for children and adolescents with heart failure: a randomized controlled trial. JAMA. Sep 12 2007;298(10):1171-9. [Medline].

  33. Singh TP, Sleeper LA, Lipshultz S, Cinar A, Canter C, Webber SA, et al. Association of left ventricular dilation at listing for heart transplant with postlisting and early posttransplant mortality in children with dilated cardiomyopathy. Circ Heart Fail. Nov 2009;2(6):591-8. [Medline].

  34. Sonne C, Sugeng L, Takeuchi M, Weinert L, Childers R, Watanabe N, et al. Real-time 3-dimensional echocardiographic assessment of left ventricular dyssynchrony: pitfalls in patients with dilated cardiomyopathy. JACC Cardiovasc Imaging. Jul 2009;2(7):802-12. [Medline].

  35. Stanton C, Bruce C, Connolly H, Brady P, Syed I, Hodge D, et al. Isolated left ventricular noncompaction syndrome. Am J Cardiol. Oct 15 2009;104(8):1135-8. [Medline].

  36. Sugiyama H, Hoshiai M, Naitoh A, Kadono T, Suzuki S, Sugita K. Outcome of non-transplant surgical strategy for end-stage dilated cardiomyopathy in young children. Circ J. Jun 2009;73(6):1045-8. [Medline].

  37. Tjang YS, Stenlund H, Tenderich G, et al. Risk factor analysis in pediatric heart transplantation. J Heart Lung Transplant. Apr 2008;27(4):408-15. [Medline].

  38. Towbin JA, Lowe AM, Colan SD, et al. Incidence, causes, and outcomes of dilated cardiomyopathy in children. JAMA. Oct 18 2006;296(15):1867-76. [Medline].

  39. Vatta M, Sinagra G, Brunelli L, Faulkner G. Remodeling of dystrophin and sarcomeric Z-band occurs in pediatric cardiomyopathies: a unifying mechanism for force transmission defect. J Cardiovasc Med (Hagerstown). Feb 2009;10(2):149-56. [Medline].

  40. Venugopalan P, Agarwal AK, Akinbami FO. Improved prognosis of heart failure due to idiopathic dilated cardiomyopathy in children. Int J Cardiol. Jul 1 1998;65(2):125-8. [Medline].

  41. Venugopalan P, Houston AB, Agarwal AK. The outcome of idiopathic dilated cardiomyopathy and myocarditis in children from the west of Scotland. Int J Cardiol. Apr 2001;78(2):135-41. [Medline].

  42. Pillekamp F, Khalil M, Emmel M, Brockmeier K, Hescheler J. Stem cells in pediatric heart failure. Minerva Cardioangiol. Jun 2008;56(3):335-48. [Medline].

 
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Chest radiograph of a child with idiopathic dilated cardiomyopathy.
Echocardiogram obtained from apical 4-chamber view revealing a dilated left atrium and left ventricle in a child with idiopathic dilated cardiomyopathy.
This is a color Doppler echocardiogram obtained from apical 4-chamber view revealing a dilated left atrium and left ventricle with the blue jet of mitral regurgitation in a child with idiopathic dilated cardiomyopathy. Mild tricuspid regurgitation is also shown.
This is an echocardiogram obtained from parasternal long axis view revealing a dilated left atrium and left ventricle in a child with idiopathic dilated cardiomyopathy.
Table 1. Factors Identified as Causes of Myocardial Damage
Category Of FactorsSpecific Factors
Viral infections (myocarditis)Coxsackievirus B, human immunodeficiency virus, echovirus, rubella, varicella, mumps, Epstein-Barr virus, cytomegalovirus, measles, polio
Bacterial infectionsDiphtheria, Mycoplasma, tuberculosis, Lyme disease, septicemia
RickettsiaPsittacosis, Rocky Mountain spotted fever
ParasitesToxoplasma, Toxocara, Cysticercus
FungiHistoplasma, coccidioidomycoses, Actinomyces
Neuromuscular disordersDuchenne or Becker muscular dystrophies, Friedreich ataxia, Kearns-Sayre syndrome, other muscular dystrophies
Nutritional factorsKwashiorkor, pellagra, thiamine deficiency, selenium deficiency
Collagen vascular diseasesRheumatic fever, rheumatoid arthritis, systemic lupus erythematosus, dermatomyositis, Kawasaki disease
Hematological diseasesThalassemia, sickle cell disease, iron deficiency anemia
Coronary artery diseasesAnomalous left coronary artery from pulmonary artery, infarction
DrugsAnthracycline, cyclophosphamide, chloroquine, iron overload
Endocrine diseasesHypothyroidism, hyperthyroidism, hypoparathyroidism, pheochromocytoma, hypoglycemia
Metabolic disordersGlycogen-storage diseases, carnitine deficiency, fatty acid oxidation defects, mucopolysaccharidoses
Malformation syndromesCri-du-chat (cat-cry) syndrome
Table 2. Summary of Genetic Loci and Disease Genes for Familial Dilated Cardiomyopathy
Clinical PatternIdentified Genetic LociIdentified Disease Genes
Autosomal dominant (AD)10q21-10q23, 9q13-q22, 1q32, 15q14, 2q31, 1q11-21Actin, desmin, lamin A/C
AD with conduction defect1p1-1q1, 3p22-3p25...
X-linked (XL)Xp21Dystrophin
XL cardio-skeletal (Barth syndrome)Xq28 (gene G4.5)Tafazzin
Table 3. Diagnosis of Dilated Cardiomyopathy in Children - Step I: Diagnosis
ApproachFindingsConclusion
Clinical suspicionInfants and young children: Shortness of breath, feeding difficulties, wheezing, failure to thrive, recurrent chest infections, hepatomegaly, cardiomegaly



Older children: Dyspnea, dependent edema, elevated jugular venous pressure, cardiomegaly



Probable heart disease with heart failure
Chest radiographyCardiomegaly, pulmonary plethora, prominent upper lobe veins, pulmonary edema, pleural effusion, collapsed left lower lobeHigh probability of heart failure with or without chest infection
ElectrocardiographyLow-voltage complexesPericardial effusion
Presence of Q waves and inversion of T waves in leads I, II, aVL, and V4 through V6 (anterolateral infarction pattern)Anomalous left coronary artery from pulmonary artery
Significant arrhythmiaDilated cardiomyopathy secondary to arrhythmia
Left ventricular or biventricular hypertrophy with or without left ventricular strain patternOften unhelpful
Doppler echocardiographic studiesSignificant congenital heart diseaseDiagnose primary disease
Significant pericardial effusion with satisfactory left ventricular ejection fractionDiagnose pericardial effusion
Left ventricular posterior wall hypokinesia with hyperechoic papillary muscles, retrograde continuous flow into proximal pulmonary artery Diagnose anomalous left coronary artery from pulmonary artery
Dilated left ventricle (>95th percentile) with global hypokinesia (fractional shortening < 25%, ejection fraction < 50%), and no demonstrable structural heart disease Diagnose dilated cardiomyopathy
Table 4. Diagnosis of Dilated Cardiomyopathy in Children - Step II: Identification of Any Underlying Etiology
ApproachFindingsConclusion
Clinical featuresPositive family historyGenetic cause for dilated cardiomyopathy
Acute or chronic encephalopathy, muscle weakness, hypotonia, growth retardation, recurrent vomiting, lethargyInborn error of metabolism involving energy production
Coarse or dysmorphic features, organomegaly, skeletal abnormalities, short stature, chronic encephalopathy, cherry-red spot in eyes Storage diseases
Skeletal muscle weakness without encephalopathyNeuromuscular disorders
Blood investigationsHigh blood urea nitrogen and creatinine levels, low calcium and magnesium levels, electrolyte disturbancesHelp in the initial management; occasionally point to a cause of dilated cardiomyopathy, especially in neonates
Elevated acute-phase reactants and cardiac enzyme levelsMyocarditis
Positive viral titersViral myocarditis
Low serum carnitine levelsSystemic carnitine deficiency
Hypoglycemia with low or no acidosis (ketosis)



1. High insulin levels, low free fatty acid



2. Low insulin levels, high free fatty acid



1. Infant of diabetic mother, nesidioblastosis



2. Defect in fatty acid oxidation or carnitine metabolism



Hypoglycemia with moderate or high acidosis (ketosis)



1. Low or normal lactate and abnormal urine and serum organic acid levels



1. High lactate



1. Organic (propionic, methylmalonic) acidemias, or ß-ketothiolase deficiency



2. Glycogen storage disease, Bath and Sengers syndromes, pyruvate dehydrogenase deficiency, mitochondrial enzyme deficiency



Hyperammonemia with acidosisOrganic acidemias (as above)
Specific enzyme assayConfirms enzymatic defect
Absence of above physical and biochemical abnormalitiesPost myocarditis or idiopathic dilated cardiomyopathy
Cardiac catheterizationEvaluate hemodynamicsUseful to predict prognosis and evaluate for transplant
Coronary angiographyAbnormal origin of left coronary artery from pulmonary arteryAnomalous left coronary artery from pulmonary artery
Myocardial biopsyMyocyte hypertrophy and fibrosis without lymphocytic infiltrateDilated cardiomyopathy
Inflammatory cell infiltration, cell necrosisMyocarditis
Special stainsMitochondrial or infiltrative diseases
Molecular studies (on blood, fibroblasts, or myocardial cells)Nucleic acid hybridization studies



Polymerase chain reaction studies



Myocarditis
DNA mutation analysisIdentifies specific genetic defect
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