Cardiomyopathy
Diagnosis

In some cases, cardiomyopathy is diagnosed when a heart murmur is detected at a routine doctor visit, although children with cardiomyopathy do not always have a heart murmur. Another way of diagnosing cardiomyopathy is through special genetic screening, which may be performed if a family member has the condition. Unfortunately, since cardiomyopathy is hard to detect, many children are not diagnosed until the disease has progressed to the point that they have signs of heart failure.

A number of tests may be used to aid the diagnosis of cardiomyopathy as well as to determine the type of the disease. These include:

• Echocardiogram — This test, which helps doctors determine the type of cardiomyopathy a child has as well as the level of heart dysfunction, uses sound waves to measure the heart's size and shape and creates an image of the heart.
• Computed Tomography (CT or CAT) Scan or Magnetic Resonance Imaging (MRI) — These tests provide a three-dimensional image of the heart.
• Electrocardiogram (ECG or EKG) — By generating a record of the heart's electrical activity, this test can be used to check for irregular heart rhythms, called arrhythmias, and evidence that the heart muscle has been strained.
• Holter Monitor — This is a small, portable device worn for one to three days that continuously records the child's heartbeat. It can be used to detect irregular heart rhythms often associated with dilated, hypertrophic or restrictive cardiomyopathy.
• Electrophysiology (EP) Study — Doctors insert special electrode catheters — long, flexible wires — into veins in the groin area and guide them into the heart. These catheters sense electrical impulses and also may be used to stimulate different areas of the heart and map out the heart's electrical system.
• Radionuclide Ventriculogram — Low-dose radioactive material is injected into a vein that leads to the heart. Then pictures are taken with a special camera, which doctors use to assess heart function.
• Cardiac Catheterization — Flexible plastic tubes, called catheters, are inserted into a vein in the groin area and then guided into the heart so that heart function can be readily assessed. Dye is injected into the catheter to check for blocked arteries.
• Genetic Testing — Blood, tissue, and urine tests may be conducted to check if your child has another genetic disorder associated with the cardiomyopathy.

Prognosis for a child diagnosed with cardiomyopathy depends on the type of cardiomyopathy they have as well as the stage of the disease.

Reviewed by health care specialists at UCSF Benioff Children's Hospital.
Last updated February 6, 2012