Cardiac Amyloidosis

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UT Southwestern Medical Center physicians have extensive expertise in diagnosing and treating complex heart conditions such as cardiac amyloidosis. We take a multidisciplinary, collaborative approach to treatment, bringing together experts from throughout UT Southwestern – all with the goal of providing patients personalized care to relieve their symptoms and improve their quality of life.

Pioneers in the Diagnosis and Care of Cardiac Amyloidosis

Amyloidosis (am-uh-loy-doh-sis) is a protein disorder. In this disease, proteins change shape (misfold), and then clump together to form amyloid fibrils. These amyloid fibrils can deposit in organs such as the heart, nerves, gastrointestinal tract and kidneys. Over time, as the amyloid fibrils build up, tissues and organs may not work as well as they should.

In cardiac amyloidosis, amyloid deposits cause heart muscle tissue to stiffen, preventing the heart from contracting and relaxing normally during heartbeats. When this happens, the heart can’t pump blood efficiently to the body, causing heart failure, arrhythmias (abnormal heart rhythms), and other heart problems. Cardiac amyloidosis can be life-threatening and requires prompt, effective treatment.

At UT Southwestern, a multidisciplinary group of physicians, led by Justin Grodin, M.D., M.P.H., and Ankit Kansagra, M.D., are at the forefront of research on diagnosis and treatment for various types of amyloidosis. Our team of cardiologists, neurologists, pathologists, and other experts develop a personalized treatment plan for each patient.  

Types and Causes of Cardiac Amyloidosis

The body makes several proteins that can cause amyloidosis. It is essential to identify which protein is causing the disease to determine proper treatment. The two most common types of amyloidosis that affect the heart are AL amyloidosis and ATTR amyloidosis.

AL amyloidosis

AL amyloidosis is the most common type, with approximately 4,500 new cases diagnosed every year. It usually affects people from ages 50 to 80. AL amyloidosis is caused by a bone marrow disorder, but it is a systemic disorder that can affect multiple organs including the heart. In AL amyloidosis, the “A” stands for amyloid, and the “L” stands for light chain. 

Light chains are components of antibodies, or immunoglobulins, made by plasma cells in bone marrow. In AL amyloidosis, a group of plasma cells makes too many light chains, which misfold and clump together to form amyloid fibrils. The fibrils are then deposited in organs. The most common organs affected are the heart and kidneys. Light chain amyloidosis can also affect the stomach, large intestine, liver, nerves, and skin. The condition can cause problems with one or more parts of the body.

ATTR amyloidosis

The liver produces a protein called transthyretin (TTR) that helps carry thyroid hormone and vitamin A throughout the bloodstream to other parts of the body. In ATTR amyloidosis, the TTR protein becomes unstable, breaks apart, and forms amyloid fibrils that deposit in both the heart and nerves. 

ATTR deposits in the heart are commonly associated with ATTR deposits in the spinal ligaments, causing a condition called spinal stenosis (narrowing), and in the carpal tunnel (a narrow passageway for nerves in the wrist), causing carpal tunnel syndrome. 

ATTR amyloidosis has two types:

  • Hereditary: hATTR results from inherited genetic mutations in a TTR gene.
  • Wild type: ATTRwt typically occurs in men 80 and older but is being diagnosed more and more in patients as young as their early 60s – including women.

Symptoms of Cardiac Amyloidosis

The symptoms of cardiac amyloidosis vary depending on the organs involved. Both AL and ATTR amyloidosis can cause symptoms such as:

  • Shortness of breath, even during light activity
  • Irregular heartbeat (arrhythmia)
  • Chest pain
  • Fatigue
  • Swelling of the abdomen, legs, ankles, or other areas
  • Numbness, tingling, or burning in the arms or legs
  • Reduced appetite
  • Bloating, gas, diarrhea, or constipation
  • Lightheadedness when moving from sitting or lying to standing

AL amyloidosis includes symptoms such as:

  • Frequent urination during the night
  • Weak nails on the fingers and toes 
  • Enlarged tongue
  • Purplish color around the eyes

ATTR amyloidosis can cause additional symptoms such as:

  • Carpal tunnel syndrome
  • Narrowing of the spine (spinal stenosis)
  • Spontaneous tendon rupture

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