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Cardiac amyloidosis results from amyloid (abnormal) protein buildup in the heart tissue that prevents normal heart function.
The heart tissue, especially the left ventricle (lower left chamber) becomes thicker and less able to pump blood efficiently.
Untreated cardiac amyloidosis can lead to heart failure.
Cardiac Amyloidosis Types
The two main types of cardiac amyloidosis are ATTR and AL.
ATTR, or transthyretin amyloidosis TTR (the protein transthyretin), transports thyroid hormone and retinol (vitamin A) throughout the body. Hereditary and nonhereditary (wild-type) are the subtypes of TTR (the protein transthyretin) amyloid.
- Hereditary, or familial cardiac amyloidosis: this TTR gene carries a mutation that produces amyloid proteins having abnormal shapes. It most commonly affects the liver, heart, kidneys and nerves.
- Wild type, or age-related, TTR amyloid is a normal protein without mutation or abnormal structure that, for unknown reasons, distorts and forms amyloid deposits in the heart. Wild-type TTR usually affects men 60 and over.
AL, or amyloid light chain, is a bone marrow disorder that usually affects people age 50 and older. Light chain is a type of blood protein that normally helps fight infection. If your bone marrow makes too many light chains they form amyloid proteins that can collect in organs like the heart, kidneys, nerves, liver and gastrointestinal system. This is primarily treated by a hematologist/oncologist in consultation with cardiologists when the heart is affected.
Cardiac Amyloidosis Treatment
Cardiac amyloidosis is usually treated with diuretics (medications which help the body to remove fluid). The usual medications for heart failure may actually be harmful, so it is important to make the correct diagnosis.
The University of Maryland has been involved in investigating new medications for cardiac TTR amyloidosis, one of which (tafamidis) is now FDA approved. We continue to work with other investigational medications in addition to tafamidis.
We work with the University of Maryland specialty pharmacy to facilitate patients obtaining this expensive medication at as low cost as possible. AL amyloidosis can be treated with new types of chemotherapy or autologous stem cell transplant (blood and marrow transplant).
At times, implantable cardioverter-defibrillator or pacemakers may be needed.
Liver transplant can be performed in some patients for hereditary ATTR.
Heart transplant may also be an option for those patients without significant amyloid deposits elsewhere in the body or those with hereditary or wild ATTR.
Factors that increase your cardiac amyloidosis risk include:
- Age – Elderly men are at high risk for wild type TTR amyloidosis. Approximately 25 percent of men over age 85 have cardiac amyloid deposits in the heart.
- Family history – Some types of amyloidosis are hereditary.
- Race – African-Americans are at higher risk of carrying a genetic mutation associated with cardiac amyloidosis.
The different types of cardiac amyloidosis share symptoms including:
- Excessive urination at night
- Heart palpitations
- Shortness of breath
- Swelling of the abdomen, legs, ankles or other part of the body
- Trouble breathing while lying down
Other symptoms depend on the type of amyloidosis and include weight loss, enlarged tongue and neuropathy – numbness, pain or weakness – in the arms and legs, carpal tunnel syndrome, spinal stenosis or aortic stenosis.
- Specific electrocardiograms (ECG) may raise suspicion.
- An echocardiogram may suggest cardiac amyloidosis if the heart walls are thick.
- Other imaging, including cardiac MRI and nuclear scans, may further help to diagnose the disease.
- Blood and urine tests can rule out or suggest AL amyloidosis.
- At times, a cardiac biopsy or bone marrow biopsy may be needed.
Make an Appointment
Get more information or make an appointment with one of our amyloidosis specialists. Call 410-328-7877.