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 AL amyloidosis, the most common type, are typically over 50.
• Gender More than two-thirds of people diagnosed with AL amyloidosis are men.
• Family Some forms of amyloidosis are hereditary.
• Other Conditions Patients with amyloidosis often have another chronic 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

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 (primary) amyloidosis which affects the bone marrow:

• Appointment at Dana-Farber/Brigham and Women’s Cancer Center will be scheduled for the same day

Other diagnostic and evaluation services include:

• Cardiac Biopsy with advanced tissue-staining techniques 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 suspected familial 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 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.

Specialized treatments for patients with cardiac amyloidosis include:

• Cardiac electrophysiology procedures
  • Implantable cardioverter defibrillator or pacemaker, for the treatment of atrial and ventricular arrhythmias that sometimes develop as the disease progresses.
• For patients with light-chain associated (AL) amyloidosis
  • Chemotherapy (need a link) can stop the overproduction of proteins that form amyloid deposits. Patients with a relatively mild case of AL cardiac amyloidosis may be offered high-dose chemotherapy with an autologous (self-donated) bone-marrow transplant. This is an effective but toxic therapy, so very careful patient selection is necessary.
• Since the liver is the main source of harmful proteins in familial amyloidosis,
  • Liver transplantation is currently the treatment of choice for patients whose disease is not too far advanced. In patients with significant cardiac disease, it may not be effective unless the heart is also transplanted.
• Intensive investigation is underway to develop and test drugs that can prevent the production of amyloid in patients with the abnormal gene responsible for the disease. These drugs, if effective, may abolish the need for liver transplantation.
• New investigational drugs are showing promise for amyloid of aging and familial cardiac amyloidosis.
• No specific treatment currently exists for senile systemic amyloidosis (SSA). However, if the drugs under investigation for familial amyloidosis are found to be effective, they also should work in SSA.

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
• Medication to dilate blood vessels and reduce the workload on the heart, decrease pressure inside the blood vessels, reduce fluid in the body, and help the heart beat stronger and more regularly.
  • 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.
  • 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.

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.

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.

• Our Heart & Vascular Team
• Request Heart & Vascular Appointment
• Heart & Vascular Locations

Learn more about BWH research and clinical trials in cardiac amyloidosis.

Learn more about amyloidosis and other causes of cardiomyopathy in our health library.

Visit the Kessler Health Education Library in the Bretholtz Center where patients and families can access computers and knowledgeable staff.

Access a complete directory of patient and family services.

American Heart Association Circulation

Amyloidosis Foundation

Amyloidosis Support Groups