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Pediatric Dilated Cardiomyopathy Differential Diagnoses

  • Author: Poothirikovil Venugopalan, MBBS, MD, FRCPCH; Chief Editor: P Syamasundar Rao, MD  more...
Updated: Apr 25, 2014
Contributor Information and Disclosures

Poothirikovil Venugopalan, MBBS, MD, FRCPCH Consultant Pediatrician with Cardiology Expertise, Department of Child Health, Brighton and Sussex University Hospitals, NHS Trust; Honorary Senior Clinical Lecturer, Brighton and Sussex Medical School, UK

Poothirikovil Venugopalan, MBBS, MD, FRCPCH is a member of the following medical societies: Royal College of Paediatrics and Child Health, Paediatrician with Cardiology Expertise Special Interest Group, British Congenital Cardiac Association

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.

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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
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
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

DNA mutation analysisIdentifies specific genetic defect
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