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Pediatric Dilated Cardiomyopathy Clinical Presentation

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

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.

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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 (S 3 and/or S 4)
  • 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.

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Contributor Information and Disclosures
Author

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 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 (>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
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
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