History

Onset is usually insidious but may be acute in as many as 25% of patients with dilated cardiomyopathy (DCM), especially if exacerbated by a complicating lower respiratory infection. Cough, poor feeding, irritability, and shortness of breath are usually the initial presenting symptoms. Pallor, sweating, easy fatigability, failure to gain weight, and decreased urine output may be observed. Wheezing may be an important clinical sign, suggesting congestive heart failure in infants.

Other symptoms at presentation, found in approximately 20% of patients, are as follows:

Chest pain
Palpitations
Orthopnea
Hemoptysis
Frothy sputum
Abdominal pain
Syncope
Neurologic deficit

Approximately 50% of patients with DCM have a history of preceding viral illness. A detailed family history for familial cardiomyopathy is revealing in as many as 25% of cases.

Physical Examination

In a patient with established disease, features of congestive heart failure are dominant.

The infant or young child with the disease is often tachypneic, tachycardic with weak peripheral pulses, and has cool extremities and hepatomegaly. Blood pressure is low, with a decreased pulse pressure. In extreme cases, patients may present in shock.

Older children may show dependent edema, elevated jugular venous pulses, and fine basal crepitations in the lungs.

Major cardiac findings include the following:

Cardiomegaly
Quiet precordium
Tachycardia
Gallop rhythm (S₃ and/or S₄)
Accentuated P-2
Murmurs of mitral and tricuspid regurgitation

Murmurs may be inconspicuous initially if the patient presents with acute heart failure.

Infants often present with predominantly respiratory signs and, in the absence of a precordial heave or prominent murmur, the underlying cardiac disease may remain undiagnosed until cardiomegaly is detected on a chest radiograph.

Differential Diagnoses

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Media Gallery

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.

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Table 1. Factors Identified as Causes of Myocardial Damage

Category Of Factors	Specific Factors
Viral infections (myocarditis)	Coxsackievirus B, human immunodeficiency virus, echovirus, rubella, varicella, mumps, Epstein-Barr virus, cytomegalovirus, measles, polio
Bacterial infections	Diphtheria, Mycoplasma, tuberculosis, Lyme disease, septicemia
Rickettsia	Psittacosis, Rocky Mountain spotted fever
Parasites	Toxoplasma, Toxocara, Cysticercus
Fungi	Histoplasma, coccidioidomycoses, Actinomyces
Neuromuscular disorders	Duchenne or Becker muscular dystrophies, Friedreich ataxia, Kearns-Sayre syndrome, other muscular dystrophies
Nutritional factors	Kwashiorkor, pellagra, thiamine deficiency, selenium deficiency
Collagen vascular diseases	Rheumatic fever, rheumatoid arthritis, systemic lupus erythematosus, dermatomyositis, Kawasaki disease
Hematological diseases	Thalassemia, sickle cell disease, iron deficiency anemia
Coronary artery diseases	Anomalous left coronary artery from pulmonary artery, infarction
Drugs	Anthracycline, cyclophosphamide, chloroquine, iron overload
Endocrine diseases	Hypothyroidism, hyperthyroidism, hypoparathyroidism, pheochromocytoma, hypoglycemia
Metabolic disorders	Glycogen-storage diseases, carnitine deficiency, fatty acid oxidation defects, mucopolysaccharidoses
Malformation syndromes	Cri-du-chat (cat-cry) syndrome

Table 2. Summary of Genetic Loci and Disease Genes for Familial Dilated Cardiomyopathy

Clinical Pattern	Identified Genetic Loci	Identified Disease Genes
Autosomal dominant (AD)	10q21-10q23, 9q13-q22, 1q32, 15q14, 2q31, 1q11-21	Actin, desmin, lamin A/C
AD with conduction defect	1p1-1q1, 3p22-3p25	...
X-linked (XL)	Xp21	Dystrophin
XL cardio-skeletal (Barth syndrome)	Xq28 (gene G4.5)	Tafazzin

Table 3. Diagnosis of Dilated Cardiomyopathy in Children - Step I: Diagnosis

Approach	Findings	Conclusion
Clinical suspicion	Infants 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 radiography	Cardiomegaly, pulmonary plethora, prominent upper lobe veins, pulmonary edema, pleural effusion, collapsed left lower lobe	High probability of heart failure with or without chest infection
Electrocardiography	Low-voltage complexes	Pericardial 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 arrhythmia	Dilated cardiomyopathy secondary to arrhythmia
	Left ventricular or biventricular hypertrophy with or without left ventricular strain pattern	Often unhelpful
Doppler echocardiographic studies*	Significant congenital heart disease	Diagnose primary disease
	Significant pericardial effusion with satisfactory left ventricular ejection fraction	Diagnose 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 (>95^th 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

Approach	Findings	Conclusion
Clinical features	Positive family history	Genetic cause for dilated cardiomyopathy
	Acute or chronic encephalopathy, muscle weakness, hypotonia, growth retardation, recurrent vomiting, lethargy	Inborn 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 encephalopathy	Neuromuscular disorders
Blood investigations	High blood urea nitrogen and creatinine levels, low calcium and magnesium levels, electrolyte disturbances	Help in the initial management; occasionally point to a cause of dilated cardiomyopathy, especially in neonates
	Elevated acute-phase reactants and cardiac enzyme levels	Myocarditis
	Positive viral titers	Viral myocarditis
	Low serum carnitine levels	Systemic 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 acidosis	Organic acidemias (as above)
	Specific enzyme assay	Confirms enzymatic defect
	Absence of above physical and biochemical abnormalities	Post myocarditis or idiopathic dilated cardiomyopathy
Cardiac catheterization	Evaluate hemodynamics	Useful to predict prognosis and evaluate for transplant
Coronary angiography	Abnormal origin of left coronary artery from pulmonary artery	Anomalous left coronary artery from pulmonary artery
Myocardial biopsy	Myocyte hypertrophy and fibrosis without lymphocytic infiltrate	Dilated cardiomyopathy
	Inflammatory cell infiltration, cell necrosis	Myocarditis
	Special stains	Mitochondrial or infiltrative diseases
Molecular studies (on blood, fibroblasts, or myocardial cells)	Nucleic acid hybridization studies Polymerase chain reaction studies	Myocarditis
	DNA mutation analysis	Identifies specific genetic defect