Rare and often underdiagnosed, cardiomyopathy is the leading cause of sudden cardiac death in children under the age of 18. Because the disease can be present without symptoms, families should be aware of any family members who have heart disease or who died unexpectedly before age 50.
Read on for frequently asked questions from the American Academy of Pediatrics about cardiomyopathy in children.
What is cardiomyopathy?
Cardiomyopathy is a chronic heart condition that involves the deterioration of the heart muscle (myocardium). The heart muscle becomes abnormally enlarged, thickened and or stiffened. Eventually the heart is unable to pump effectively and cannot supply the body with enough blood to function. In severe cases, cardiomyopathy can lead to heart failure or sudden death.
There are 5 forms of cardiomyopathy:
Dilated cardiomyopathy (DCM)
Hypertrophic cardiomyopathy (HCM)
Restrictive cardiomyopathy (RCM)
Arrhythmogenic right ventricular cardiomyopathy (ARCM)
Left ventricular non-compaction cardiomyopathy (LVNC)
Who gets cardiomyopathy?
Cardiomyopathy predominantly affects adults, but in rare instances affects infants and children.
According to the
North American Pediatric Cardiomyopathy Registry, one out of 100,000 children in the U.S. is diagnosed with cardiomyopathy each year. However, this is a conservative number because it does not include all types of cardiomyopathies. Cardiomyopathy can occur in any child regardless of age, gender, race or economic background.
Causes of cardiomyopathy in children
There are many causes of cardiomyopathy in children, including some that are not fully understood. Common causes include:
Inheriting the condition from one or both parents
A viral infection
Toxins affecting other organs
Using chemotherapy drugs
Metabolic, mitochondrial or systemic diseases in parts of the body other than the heart
Despite advances in
genetic testing, the exact cause remains unknown in 2/3 diagnosed children.
Symptoms of pediatric cardiomyopathy
Occasionally, symptoms of pediatric cardiomyopathy can be mistaken as a cold, flu, asthma, or stomachache. Some affected children have no symptoms while others may experience any of the following symptoms:
Shortness of breath or rapid breathing
Dizziness and fainting
Irregular or rapid heartbeat
Abdominal bloating or swelling
Infants may experience poor weight gain, extreme sleepiness, difficulty feeding or excessive sweating.
How is pediatric cardiomyopathy diagnosed?
pediatric cardiologist confirms the diagnosis through an
echocardiogram (echo) and
electrocardiogram (EKG, or ECG). In some cases, other medical tests are necessary. Genetic testing may be recommended to verify the cause of the disease.
Since pediatric cardiomyopathy is rare, it is recommended to locate a children's medical center with a wide range of experience in managing children with cardiomyopathy. Early diagnosis and treatment of the disease is essential to preventing complications and progression to heart failure.
Treatment options for cardiomyopathy
There is no cure for cardiomyopathy, but the disease is treatable. Symptoms and complications can be well-controlled by medications, surgery, and implantable devices. The type of cardiomyopathy and its severity determines the treatment plan.
Medication is usually the first treatment option to improve the functioning of the heart.
An implantable cardioverter defibrillator (ICD) may be needed to regulate heartbeat in children with irregular heart rhythms (arrhythmia).
A surgical procedure called a myectomy may relieve some symptoms in children with HCM.
A heart transplant may be necessary if medical management is ineffective in controlling symptoms and preventing heart failure.
Cardiomyopathy is often genetic, so it is important to assess a family's inheritance risk and discuss family screening. A pediatric cardiologist and a
pediatric geneticist should work together to form a screening plan and discuss genetic testing options.
How does the diagnosis impact a child's lifestyle?
Although cardiomyopathy is a chronic condition, many children with cardiomyopathy lead a relatively normal life with few limitations. A diagnosis will likely involve more visits to the cardiologist and taking daily medications. Other adjustments may include restriction from
competitive and contact sports, diet changes, and school accommodations.