Evaluation and Diagnosis

Cardiomyopathy is not easily detected during routine physical examinations by a pediatrician or general practitioner. Getting a proper evaluation and diagnosis as early as possible is important to a child’s long-term outcome. However, this may not always be possible due to the complex nature of the disease. Symptoms may be non-existent or subtle in the early stages of the disease. It can be particularly difficult to detect in babies and young children because of their inability to clearly communicate how they feel. It is not uncommon for cardiomyopathy to be inadvertently missed in young children who have no physical signs of the disease, heart-related illness or family history of the disease.

Some children are diagnosed with cardiomyopathy following the detection of a heart murmur or other abnormal physical findings during a routine doctor’s examination. In some cases, cardiomyopathy symptoms can be misinterpreted to be asthma, pneumonia, acute bronchitis, respiratory distress, gastrointestinal disease or a general cold or flu. Usually upon further investigation, a chest x-ray will reveal an enlarged heart and lead to a cardiologist referral.

Evaluation Process  

A formal diagnosis is made by a pediatric cardiologist, who will perform an echocardiogram (ultrasound image of the heart) and electrocardiogram (records electrical activity of the heart) to determine if there is any abnormal thickening or enlargement in the heart. Other non-invasive or invasive tests may be necessary depending on the child’s condition. In addition to evaluating the heart, blood and urine samples may be collected as part of the evaluation process. Laboratory testing will be dependant upon a child’s age at diagnosis and his or her range of symptoms. Usually when an infant or young child presents with cardiomyopathy, several blood tests may be done to test for viral infections or metabolic and mitochondrial diseases. The below pages describe the different non-invasive and invasive procedures used for diagnosis:

Genetic Testing

A geneticist may become involved in the diagnostic evaluation when there is a family history of cardiomyopathy or another disorder is suspected to be associated with cardiomyopathy. Genetic testing may be recommended to identify a cause or confirm a disease associated with secondary cardiomyopathy. Together, the geneticist and cardiologist will use the information to advise you on family screening and develop a targeted treatment plan. For information on the genetic testing process, interpreting test results and the Genetic Information Non-Discrimination Act, visit the Genetic Testing pages.

Non-Invasive Diagnostic Procedures


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