Pediatric Cardiomyopathy

Diagnosis typically begins with a thorough history, including questions about family history of heart disease or sudden death, and a physical examination. Further evaluation typically includes:

• Echocardiogram — the primary diagnostic tool, allowing the care team to directly visualize the heart's chambers, measure how thick or dilated the muscle walls are, and assess how effectively the heart is pumping blood
  
  
• Electrocardiogram — evaluates the heart's electrical activity and can reveal abnormal rhythms associated with certain types of cardiomyopathy
  
  
• Blood tests — may be used to screen for metabolic or other underlying conditions that can cause cardiomyopathy
  
  
• Genetic testing — frequently recommended, both to identify an underlying inherited cause and to guide screening of other family members
  
  
• Cardiac MRI — in some cases, provides more detailed information about the heart muscle's structure
  
  
• Heart muscle biopsy — rarely performed when the cause remains unclear after noninvasive testing

Treatment is tailored to the specific type of cardiomyopathy, its underlying cause where known, and how significantly it is affecting the child's heart function:

• Medications — often the first line of treatment and may be used to reduce the heart's workload, control blood pressure, manage fluid retention, or address an associated abnormal heart rhythm
  
  
• Septal myectomy — a surgical procedure for children with hypertrophic cardiomyopathy who have significant obstruction to blood flow that does not respond adequately to medication; a portion of the thickened muscle is carefully removed to widen the pathway for blood flow, and this can significantly improve symptoms and heart function
  
  
• Catheter ablation — for some children with cardiomyopathy-related arrhythmias, a minimally invasive procedure that targets and eliminates the specific area of heart tissue responsible for the abnormal rhythm
  
  
• Ventricular assist device — for children whose heart function is severely reduced despite medical treatment, used to support the heart's pumping function, either as a bridge to recovery or while awaiting heart transplantation
  
  
• Heart transplantation — remains a definitive treatment option for children with advanced, treatment-resistant heart failure from cardiomyopathy