Restrictive Cardiomyopathy

The most common type of restrictive cardiomyopathy, known as stiff heart syndrome, results from deposits of a protein called amyloids in your heart muscle. This condition is called cardiac amyloidosis. In the early stages of this condition, these deposits interfere with your heart’s ability to relax. At later stages, these deposits also affect your heart’s contractile function.

Another condition that can cause restrictive cardiomyopathy is cardiac sarcoidosis, in which granulomas (small areas of inflammation) form in your heart.
In rare cases, restrictive cardiomyopathy can also be caused by excessive iron (hematochromatosis) or copper (Wilson’s disease).

Lastly, restrictive cardiomyopathy can result from a genetic change in your DNA. This is called idiopathic restrictive cardiomyopathy. There is no cure for this form of the condition, as the underlying cause is genetic.

In some people, restrictive cardiomyopathy is caused by a genetic change.

While the genetic abnormality may only be in the individual with the condition, some gene defects that cause restrictive cardiomyopathy can be familial — passed down from generation to generation. If so, other family members may also be at risk for restrictive cardiomyopathy.

Our cardiologists rely on family history and genetic testing to help recognize the presence of genetic cardiomyopathy and determine whether there may be a familial predisposition. If a familial link is suspected, we recommend your family members and relatives also be screened for restrictive cardiomyopathy.

The symptoms of restrictive cardiomyopathy can include the following: 

• Shortness of breath, during exercise or while sleeping 
• Fatigue or lack of energy 
• Loss of appetite 
• Abdominal swelling 
• Lower extremity swelling (feet, ankles or calves) 
• Palpitations, uneven rhythms of the heart 
• Chest pain 
• Decreased urine output

Symptoms often develop gradually, but in some cases the onset may be sudden or acute.

Restrictive cardiomyopathy is distinguished from other causes of heart failure by a variety of tests and physical screenings.

Identifying the specific cause early on is important for preventing further damage to your heart.

Using innovative imaging techniques like cardiac MRI and fluorodeoxyglucose (FDG) cardiac PET scan, our doctors proactively look for rare causes of restrictive cardiomyopathy, such as cardiac sarcoidosis.

Because restrictive cardiomyopathy is often associated with ventricular tachycardias, which are lethal heart rhythm abnormalities, our experts collaborate closely with electrophysiology specialists to offer electrical mapping and image-guided heart biopsy. These techniques increase the chances of the most accurate diagnosis.

The primary goal while caring for someone with restrictive cardiomyopathy is to identify and treat the underlying cause of the condition.

If your condition is caused by cardiac amyloidosis, cardiac sarcoidosis, hemochromatosis or Wilson’s disease, your heart failure specialist will work closely with other experts to effectively treat these complex conditions.

If you have idiopathic restrictive cardiomyopathy, which is often genetic, there is no cure. Instead, treatment focuses on controlling your symptoms and improving your quality of life. Medications, such as blood thinners (anticoagulants) and water pills (diuretics), may be used in various combinations.

If restrictive cardiomyopathy results in significant impairment of your heart’s function, you may need a heart transplant. Similarly, if your symptoms are severe and cannot be controlled with medication, our advanced heart failure specialists can help you explore your options, which can include a heart transplant or mechanical support for your heart.