About 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 conditions like carpal tunnel syndrome, spinal stenosis, 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.
Diagnosing Cardiac Amyloidosis
Your doctors may order the following tests.
- An echo (echocardiogram) determines whether your heart is thicker 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.
Blood and urine tests detect monoclonal proteins to help identify specific types of amyloidosis.
Technetium Phyrophosphate Scintigraphy (PYP) Scan
In nuclear medicine test, 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 radioactive tracer.
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.
Treating ATTR Cardiac Amyloidosis
While there are no treatments to reverse or cure ATTR cardiac amyloidosis, existing treatments can slow the disease’s progression.
Gene-silencing oral medications stabilize transthyretin proteins before they mutate, reducing the production of amyloid. Targeted therapies shut down amyloid production or limit amyloid deposits in organs.
Pacemakers and implantable cardioverter defibrillators (ICDs) help improve heart function and alleviate symptoms like shortness of breath and heart rhythm disturbances.
Heart transplantation may be an option for people who develop end-stage heart failure.