Cardiac Amyloidosis

Proteins help maintain the body’s organs and other tissues. Each protein’s function is determined by its shape and how it is folded. Proteins that fold incorrectly can become amyloid proteins -- a toxic waste product that can attack body systems. 

When amyloid proteins build up in your heart, it is called cardiac amyloidosis. This can cause your heart to become thick and stiff, which leads to swelling, shortness of breath, low blood pressure (hypotension), arrhythmias, valvular disease, cardiomyopathy, and more. Ultimately, cardiac amyloidosis can cause life-threatening heart failure.

Types of Cardiac Amyloidosis
There are two main types of cardiac amyloidosis:

1. Transthyretin (TTR) amyloidosis is the most common type. TTR amyloidosis occurs when the TTR protein made by the liver is altered by normal aging or by a genetic mutation. 
2.  Light chain (AL) amyloidosis is rare, but it’s more aggressive. AL amyloidosis is caused by abnormal cells in the bone marrow.

Learn More About Amyloidosis
Amyloidosis is a complex condition that can affect multiple body systems at the same time. People with cardiac amyloidosis may also experience non-cardiac symptoms like carpal tunnel syndrome, spinal stenosis, digestion problems, and neuropathy, just to name a few. Researchers believe cardiac amyloidosis may be much more prevalent than previously thought. Doctors at Duke are helping lead the effort to learn more about this disease, identify it sooner, and limit its effects.

Duke cardiologists diagnose cardiac amyloidosis and identify which type you have so that you receive the right treatment. Your doctors may order one or more of the following tests:

Heart Imaging

• An EKG (electrocardiogram) can identify arrhythmias like atrial fibrillation and other problems with your heart’s electrical system.
• An echo (echocardiogram) can help determine whether your heart is thicker than normal.
• A cardiac MRI captures detailed pictures of your heart’s anatomy and any scar buildup in the heart muscle.

Lab Tests
Blood and urine tests can detect monoclonal proteins, which would suggest AL amyloidosis.

Technetium Phyrophosphate Scintigraphy (PYP) Scan
This nuclear medicine test involves the injection of a liquid with radioactive tracer through a vein in your arm. The tracer will be attracted to areas in your heart where TTR amyloid proteins reside. A scanner will collect 3D images of your heart and highlight the radioactive tracer.

Heart Biopsy
A doctor will insert a thin tube (called a catheter) into a vein in your neck and thread it to your heart. A small sample of tissue will be removed through the catheter and examined in a lab under a microscope.

While there are no treatments to reverse or cure cardiac amyloidosis, existing treatments can slow the disease’s progression. It is important for you to be diagnosed and treated early so you can live longer with fewer symptoms. 

Treatments for TTR Cardiac Amyloidosis
Tafamidis is an oral medication that stabilizes TTR proteins before they misfold, reducing the production of amyloid that can affect the heart.

Treatments for AL Cardiac Amyloidosis
AL amyloidosis often affects multiple organs and is treated by hematologists with therapies that target its source in the bone marrow. Cardiologists help manage the heart involvement with treatments to minimize any swelling and arrhythmias. Because AL amyloidosis can be aggressive and fast-moving, it’s vital to start treatment as soon as possible.

• Targeted therapies shut down amyloid production or limit amyloid deposits into organs.
• Chemotherapy stops or slows the growth of cells that produce abnormal amyloid protein.
• Stem cell transplantation helps rebuild your bone marrow after chemotherapy.

In-House Diagnostics
Duke offers every test needed to definitively diagnose your cardiac amyloidosis and its type. This saves you precious time and ensures you get the right treatment as soon as possible. 

Genetic Testing and Counseling
Because TTR cardiac amyloidosis can be caused by a genetic mutation, it’s important to consider how this diagnosis could affect your family. Our genetic experts can test your children, grandchildren, and others to learn more about their risk of developing cardiac amyloidosis.

Shaping the Future of Amyloidosis Care
Many of Duke’s cardiac amyloidosis specialists are studying new ways to diagnose and treat the disease. They’re also developing ways to help identify cardiac amyloidosis sooner. Together, these efforts translate into the most advanced care for your condition.

A Team of Specialists
Amyloidosis can affect more than one organ or body system at a time, so it’s ideal to have a team of integrated specialists working together to deliver comprehensive, complementary treatment. Our team meets regularly to discuss patient care and research updates. We also try to combine visits with relevant providers whenever possible.