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Amyloid Heart Disease

Amyloidosis refers to a group of diseases caused by deposits of abnormal proteins, known as amyloid, in one or more organs of the body. Deposition of amyloid in the heart is known as cardiac amyloidosis or amyloid heart disease. When this occurs, the heart becomes stiff, causing fluid build-up in the lungs that leads to breathlessness and fluid buildup in soft tissues, which, in turn, leads to leg and abdominal swelling.

  • There are several types of amyloidosis that can affect the heart, and it is vital that the correct type is identified, as treatment differs greatly depending on the specific form.
  • Transthyretin-related (TTR) amyloidosis is derived from transthyretin, a small molecule mainly produced by the liver. There are 2 types of TTR-related amyloidosis: a genetic form known as hereditary transthyretin-related amyloidosis, (hATTR), and a nonhereditary form called wild-type ATTR (previously known as senile systemic amyloidosis).
  • ATTR is the most common type of cardiac amyloidosis, it can also involve ligaments and tendons, causing spinal stenosis, carpal tunnel syndrome and biceps tendon rupture.
  • The peripheral and autonomic nerves can also be involved in hATTR, causing symptoms like numbness, tingling and dizziness.
  • In AL amyloidosis, the commonest organs to be damaged are the heart in the kidney. However, amyloid deposits may also occur in the gut, skin, soft tissues such as the tongue, nerves, lungs, and liver. Early diagnosis of AL cardiac amyloidosis is important since patients experience the most rapid disease progression.
  • Secondary (AA) amyloidosis usually causes liver or kidney problems and rarely affects the heart.
  • Localized amyloid deposits may occasionally occur in isolation without evidence of a generalized disease. Isolated bladder amyloid and amyloid in the trachea are the forms most commonly seen.

The Brigham and Women’s Hospital (BWH) and Dana-Farber Cardiac Amyloidosis Program is a unique service that focuses exclusively on this elusive and deadly condition. Our Program was established to fill a significant void in the diagnosis and treatment of systemic amyloidosis, acquire a better understanding of cardiac amyloidosis, specifically, and improve care for patients who have the disease.

An international referral site, the Amyloidosis program is part of the BWH Heart & Vascular Center and is located within the state-of-the-art Shapiro Cardiovascular Center.

Read the Boston Globe article A hidden heart disease that’s often misdiagnosed.

Amyloid Heart Disease Topics

Risk Factors for Amyloid Heart Disease

Although the root cause of amyloidosis is unknown, there are several risk factors, including:

  • Age Most people diagnosed with amyloidosis are over 40, and those patients diagnosed with ATTR amyloidosis, the most common type, are typically over 70.
  • Gender More than three-quarters of people diagnosed with ATTR amyloidosis are men.
  • Family Some forms of amyloidosis are hereditary.
  • Other Conditions Patients with amyloidosis often have another chronic disease.
Symptoms of Amyloid Heart Disease

The first symptom to appear depends upon the organ or organs involved. The following are some of the more common indications of cardiac amyloidosis. These symptoms are common to many forms of heart disease. The diagnosis of amyloidosis as their root cause relies on a careful patient history and physical examination, combined with the results of specialized cardiac tests. Patients with cardiac amyloidosis may have these symptoms:

  • Swelling of legs, ankles, or other portion of the body (such as abdominal swelling or enlargement)
  • Pressure or dull pain in chest during exertion (similar to what is felt with angina)
  • Fatigue, reduced activity tolerance
  • Shortness of breath with activity
  • Breathing difficulty while lying down
Diagnosis of Amyloid Heart Disease

Before a patient comes for their first appointment, we ask that they provide us with a detailed medical history. This will help us to care for them more efficiently.

During the evaluation appointment, every patient will have:

  • Echocardiogram
  • Blood tests
  • 60-90 minute consultation with the program’s lead physician

Some patients will have:

  • Cardiac Magnetic Resonance Imaging (MRI) and/or a nuclear (pyrophosphate) scan of the heart. This is used to produce detailed images of the heart, and a specific imaging agent (gadolinium) is used to help diagnose cardiac amyloidosis.

For patients with suspected AL amyloidosis which affects the bone marrow:

A biopsy is required for diagnosis. A skin biopsy is the first step with blood tests to look for an excess of light chains in the blood. A bone marrow biopsy may also be obtained, usually from the hip bone to examine the marrow inside the bone to look for abnormal cells that are producing the abnormal protein in AL amyloidosis. Depending on these results, a heart, kidney or liver biopsy may be needed. Other diagnostic and evaluation services include:

  • Cardiac Biopsy with advanced tissue-staining techniques may sometimes be required to confirm the presence of cardiac amyloidosis and to type precisely the particular form of amyloid deposited in the heart.
  • Genetic testing for patients with ATTR amyloidosis
  • Precise assessment of cardiac function by state-of-the-art, noninvasive testing, including echocardiographic strain imaging by speckle tracking and coronary flow reserve by PET scanning, in order to better determine patient eligibility for aggressive therapy.
  • Evaluation by the Advanced Heart Failure/Cardiomyopathy Program for patients potentially eligible for heart transplantation

View a series of short echocardiography video clips that reveal typical features of cardiac amyloidosis.

Treatment for Amyloid Heart Disease

Treatment for each patient will vary according to the type of amyloidosis they have, how far the disease has progressed, and the presence of any underlying conditions.

For patients with light-chain associated (AL) amyloidosis

It is critical to stop the production of the abnormal light chains because, by doing so, progression of the disease can be stopped and some degree of improvement in damaged organs will often occur.
The treatment of the abnormal production of light chains by plasma cells has progressed considerably over the last 10 years.

Although amyloidosis is not a cancer, chemotherapy or chemotherapy -like drugs are used to destroy the abnormal plasma cells. A common combination is a chemotherapy agent called cyclophosphamide, with a therapy called bortezomib (Velcade) that specifically targets the plasma cells, and with a steroid known as dexamethasone. This therapy, which is given once weekly as tablets and injections under the skin is often referred to as “CyBorD”.

Recently, an antibody-therapy that is highly effective has been approved for the treatment of amyloidosis, and this is known as daratumumab. Daratumumab may be incorporated with CyBorD from the beginning of therapy or may be added a month or two later. Therapy is usually given once weekly and is generally well-tolerated. Details of the therapy and its anticipated side effects will be given to you by the amyloid hematologist specialist. In general, the specific therapy targeted against the light chains lasts for 6 to 12 months, but some patients may get ongoing maintenance therapy, usually in the form of pills after this.

Treatment for transthyretin-related amyloidosis (ATTR)
  • There are two types of drug available for treatment of ATTR amyloidosis.
  • Tafamidis, stabilizes the TTR protein, slowing the production of amyloid proteins. This is approved for ATTR cardiomyopathy, wild-type or hereditary.
  • Gene silencers, that stop the production of the TTR protein by the liver, are approved for patients with Familial Amyloid Polyneuropathy (patients with the hereditary form that predominantly affects nerves).
  • There are many clinical trials underway looking at novel therapies for ATTR. (Learn more about our research and clinical trials.)
Cardiac electrophysiology procedures
When all other measures have proven ineffective, physicians may recommend heart transplantation.

The Cardiac Amyloidosis Program provides patient care coordination with non-cardiac specialists for co-existing conditions such as pulmonary hypertension, peripheral and autonomic neuropathy and renal and gastroenterological disorders.

Treatment for Complications of Amyloid Heart Disease

  • Lifestyle changes to limit risk factors:
    • Weight loss
    • Fat and salt reduction in diet
    • Blood pressure control
    • Smoking and alcohol cessation
  • The treatment of the effect of amyloid deposits on the organs, depends upon the organ involved. .
    • Patients with cardiac amyloidosis tend to retain a lot of fluid and are sensitive to sodium intake. Diuretics (medications that remove excess sodium and fluid from the body) are the main drugs of therapy for amyloid-related symptoms.
    • Instability of blood pressure on standing due to nervous system amyloidosis can be improved by simple measures like filings compression stockings as well as with medications, of which the commonest is a drug called midodrine.
    • Patients with cardiac amyloidosis may be unusually sensitive to the side effects of common cardiac drugs. Some drugs can cause problems in those with cardiac amyloidosis and must be administered with caution.

Research and Clinical Trials

Brigham and Women’s Hospital is the site of new discoveries and ongoing research in cardiac amyloidosis, including the use of new medications and highly sensitive echocardiographic techniques for distinguishing cardiac amyloidosis from other heart diseases. Learn more about our research and clinical trials.

What You Should Expect

The Heart & Vascular Center is located in the Shapiro Cardiovascular Center, across the street from BWH's main 75 Francis Street entrance. The Heart & Vascular Center brings together the full range of services in one location, fostering seamless and coordinated care for all cardiovascular patients.

If you are having surgery or a procedure, you will likely be scheduled for a visit to the Weiner Center for Preoperative Evaluation or the Watkins Clinic for pre-operative information and tests.

The day of surgery, you care will be provided by surgeons, anesthesiologists and nurses who specialize in surgery for patients with amyloidosis. After surgery, you will go to the post-surgical care unit where you will receive comprehensive care by an experienced surgical and nursing staff.

During your surgery, family and friends can wait in the Shapiro Family Center. Staff members will provide surgery updates and caregivers who leave the hospital will be contacted by cell phone.

Learn more about your hospital stay and returning home.

Multidisciplinary Care

Led by Rodney H. Falk, MD, widely recognized as a cardiac amyloidosis expert, our team includes specialists in cardiovascular medicine, cardiac pathology, cardiac imaging, cardiac surgery, gastroenterology, hematology, nephrology, neurology and cardiac research – all Harvard Medical School faculty with extensive experience in cardiac amyloidosis. We work closely with patients and referring physicians, providing the highest standard of medical and supportive care, combined with cutting-edge research and clinical trials.

Dr. Rodney Falk talks about Advancing Treatment of Cardiac Amyloidosis. Read the video transcript.


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