Cardiac Amyloidosis

When amyloid proteins build up in your heart, they can cause serious heart problems like cardiomyopathy, arrhythmia, valvular disease, heart failure, and death. 

There are two types of amyloidosis that most often cause heart problems. 

Transthyretin Amyloidosis (ATTR)
ATTR occurs when transthyretin proteins made by the liver are altered due to aging (these are called “wild-type”) or genetic mutation (these are considered “hereditary”). ATTR can attack other body systems besides the heart and is associated with orthopaedic conditions like carpal tunnel syndrome, spinal stenosis, and tendon ruptures as well as neuropathy, leg swelling, fainting, digestion problems, sexual dysfunction, and more. 

Light Chain Amyloidosis (AL) 
AL occurs when plasma cells in the bone marrow produce abnormal proteins. AL is usually managed by blood, bone marrow, and heart experts.

Your doctors may order the following tests.

Cardiac Imaging

• An echo (echocardiogram) determines whether your heart is thicker and more stiff than normal.
• A cardiac MRI captures detailed pictures of your heart’s anatomy as well as scar tissue in the heart muscle.
• An EKG (electrocardiogram) identifies arrhythmias and other problems with your heart’s electrical system.

Lab Tests
Blood and urine tests detect monoclonal proteins to help identify specific types of amyloidosis.

Technetium Pyrophosphate Scintigraphy (PYP) Scan
This is a nuclear medicine test where a liquid with radioactive tracer is injected into a vein in your arm. The tracer is attracted to areas in your heart where transthyretin proteins reside. A scanner collects 3D images of your heart and highlights the tracer's location.

Heart Tissue Biopsy
A thin tube (called a catheter) is inserted into a vein in your neck and guided to your heart. A small sample of tissue is removed through the catheter and examined in a lab under a microscope.

While there are no treatments to reverse or cure ATTR cardiac amyloidosis, existing treatments can slow the disease’s progression. 

Medications
To limit amyloidosis at the source, targeted therapies work in the liver to shut down transthyretin production or by stabilizing the transthyretin protein before it can form amyloid deposits in the heart.

Device Therapies
Pacemakers and implantable cardioverter defibrillators (ICDs) help reduce heart rhythm or heart rate disturbances. These devices can improve heart function as well as alleviate symptoms like shortness of breath and activity intolerance.

Heart Transplant
Heart transplantation may be an option for people who develop end-stage heart failure.

Advanced 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
If your ATTR is hereditary or caused by a genetic mutation, it’s important to consider how this diagnosis could affect your family. Our genetic experts can test your family members 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 of experts in cardiology, hematology, neurology, nephrology, pathology, radiology, and genetics meets regularly to discuss patient care and research updates. We also try to combine visits with relevant providers whenever possible.

Heart Transplant Program
Our team uses advanced techniques to match more hearts with more people who need them. We perform more heart transplants than most other centers in the country, and we have some of the shortest wait times in the region.