Cardiac amyloidosis is a rare disorder where abnormal protein deposits, called amyloids, build up in the heart tissue. These deposits stiffen the heart muscle, making it difficult for the heart to pump blood effectively. Over time, this can lead to heart failure and other complications. It’s often referred to as "stiff heart syndrome."

There are several types of amyloidosis that affect the heart. Each type involves different proteins and has different implications for treatment:

• AL (Light Chain) Amyloidosis: Caused by an overproduction of light chain proteins from bone marrow. This form is associated with multiple myeloma.
• ATTR Amyloidosis: Results from a misfolded transthyretin protein. It includes:
• Hereditary ATTR: Passed through families due to a genetic mutation.
• Wild-type ATTR: Occurs with aging and is not inherited.

Understanding the type of amyloidosis helps guide treatment options.

The cause of cardiac amyloidosis depends on the type. AL amyloidosis stems from plasma cell disorders, while ATTR types are linked to either genetic mutations or aging. In all cases, abnormal proteins form deposits in the heart, interfering with its function.

You may be at higher risk for cardiac amyloidosis if you:

• Are over age 60
• Have a family history of ATTR amyloidosis
• Are male (more commonly affected by wild-type ATTR)
• Have been diagnosed with multiple myeloma or other plasma cell disorders

Early recognition in high-risk groups is key to improving outcomes.

Cardiac amyloidosis symptoms often mimic those of other heart conditions, which can delay diagnosis. Common symptoms include:

• Cardiac manifestations such as:
• Fatigue and weakness
• Irregular heart rhythms (arrhythmias)
• Shortness of breath, especially during activity
• Swelling in the legs and feet

• Extracardiac manifestations such as:
• Bilateral carpal tunnel syndrome
• Gastroparesis
• Peripheral neuropathy
• Spinal stenosis

If symptoms persist or worsen, it’s important to speak with a heart specialist.

Diagnosing cardiac amyloidosis can be complex. It typically involves:

• Electrocardiogram (EKG) and Echocardiogram to assess heart rhythm and structure.
• Genetic testing to look for inherited changes in DNA that may increase the risk of certain heart conditions.
• Nuclear imaging, which uses a small amount of radioactive material and a camera to create detailed pictures of blood flow and heart function.
• Blood and urine tests to detect abnormal proteins.
• Biopsy of heart tissue or fat pad to confirm amyloid deposits.

If you experience persistent heart symptoms or have risk factors, consult a cardiologist familiar with amyloidosis.

Treatment for cardiac amyloidosis depends on the type and stage of the disease. Options may include:

• Medications and silencers to stabilize the protein
• Chemotherapy for AL amyloidosis
• Heart failure treatments like diuretics and SGLT 2 inhibitors
• Heart transplant, in advanced cases

Managing the underlying protein abnormality is critical to preserving heart function.

Without treatment, cardiac amyloidosis can lead to serious complications:

• Congestive heart failure
• Life-threatening arrhythmias
• Blood clots and stroke
• Kidney or liver involvement
• Shortened life expectancy

Early diagnosis and targeted treatment can help reduce these risks.

Most types of amyloidosis are not preventable, so early detection and management are essential. However, you can support your heart health by:

• Managing chronic conditions like high blood pressure and diabetes
• Following a heart-healthy diet
• Reporting family history of amyloidosis to your doctor
• Seeing a specialist if symptoms arise