Cardiac Amyloidosis Overview

Cardiac amyloidosis is quite rare and produces symptoms very similar to other heart diseases. It is, therefore, often misdiagnosed. The disease is more common in men than in women and is rarely seen in people under age 40.

What is Cardiac Amyloidosis?

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. When this occurs, the heart becomes stiff, causing fluid buildup in the lungs that leads to breathlessness and fluid buildup in soft tissues that 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.

• Cardiac amyloidosis is often a feature of AL (primary) amyloidosis, a bone marrow disease that is closely related to – and occasionally accompanies – multiple myeloma. In AL amyloidosis, abnormal plasma cells in the bone marrow produce a protein that breaks down to form amyloid deposits in various tissues of the body, including the heart. Men and women are equally affected and although the disease is commonest after the age of 50, it occasionally occurs in younger patients.
• Familial amyloidosis is an inherited disease. It is most commonly associated with an abnormality in a protein called transthyretin (TTR), which functions normally until adult life and then - usually between age 30 and 60 - breaks down and causes amyloidosis. There are many different types of abnormalities (mutations) of TTR, but most are quite rare. However, 1 in 25 African-Americans carry this abnormality, and when it does occur in this group - usually around age 60-70 – it leads to progressive fluid retention due to impaired heart function.
• Senile amyloidosis is also caused by amyloid derived from transthyretin (TTR), but in this case the transthyretin appears structurally normal. This form of amyloidosis is a slowly progressive disease that affects the heart of elderly men. It may be one of the commonest forms of cardiac amyloidosis, but the diagnosis is often missed, either because the physician is unaware of the disease or because symptoms are attributed to other forms of heart disease.
• The heart is less often compromised by AA (secondary) amyloidosis, which typically occurs in patients with chronic inflammatory diseases such as rheumatic diseases or chronic inflammatory bowel disease. It usually causes liver or kidney problems and rarely affects the heart.

Cardiac Amyloidosis Care at Brigham and Women’s Hospital

The Cardiac Amyloidosis Program at Brigham and Women’s Hospital (BWH) is a unique collaboration among clinicians and researchers at Brigham and Women’s Hospital, Harvard Medical School, Dana-Farber Cancer Institute, and Harvard Vanguard Medical Associates, providing a focused and thorough approach to caring for patients with all forms of cardiac amyloidosis. The Program offers comprehensive diagnostic and treatment services, including:

• 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 Disease Program within the Carl J. and Ruth Shapiro Cardiovascular Center at Brigham and Women’s Hospital for selected patients potentially eligible for heart transplantation.
• Sophisticated cardiac electrophysiology procedures, including an implantable cardioverter-defibrillator or pacemaker, for the treatment of atrial and ventricular arrhythmias.
• Disease-specific treatment, such as chemotherapy for patients with light-chain associated (AL) amyloidosis and access to new investigational agents for amyloid of aging and familial cardiac amyloidosis.
• Diagnosis and treatment of uncommon diseases that may mimic cardiac amyloidosis on the echocardiogram, such as mitochondrial cardiomyopathy and Fabry disease.

In addition, the program provides patient care coordination with non-cardiac specialists for other conditions that often coexist with cardiac amyloidosis, including pulmonary hypertension, peripheral and autonomic neuropathy, and renal and gastroenterological disorders.

Cardiovascular Care at Brigham and Women’s Hospital

For nearly a century, Brigham and Women’s Hospital has been at the epicenter for innovation and discovery in cardiovascular care and research.

Our Heart & Vascular Center continues to be poised for the future and will lead the way in shaping cardiovascular care in years to come. The way we deliver care to our patients within our state-of the-art Carl J. and Ruth Shapiro Cardiovascular Center – integrating all of our cardiovascular services to create a truly collaborative environment that fosters teamwork amongst all of our specialists – will serve as a catalyst for groundbreaking advances in heart and vascular care and research.

Patient- and Family-focused Care

BWH has long been committed to not only the care of our patients but also the many other needs that they and their families have. This philosophy of patient- and family-focused care – involving systems and services that emphasize healing in a comfortable, relaxed environment – is a guiding force behind the care we provide at the Center.

Quality of Patient Care

BWH is committed to providing all of our patients with the safest, highest-quality, most-satisfying care possible and follow established protocols that have been shown to improve patient outcomes. Our Inpatient Satisfaction Survey, sent to patients’ to assess their total care experience, helps us to monitor what we are doing well and where we could improve. We pride ourselves in the Quality of Patient Care we provide and how we compare with other hospitals.

Brigham and Women’s Cardiac Amyloidosis Team

The Cardiac Amyloidosis Program team is committed to patients and their families. Each patient's diagnosis and treatment plan will be designed and tailored to their needs. Our team of highly skilled doctors, nurses, and other health care professionals work together to deliver the highest quality care to every patient.

Contact Us

If you believe you should have an evaluation and would like to schedule an appointment with one of our cardiac amyloidosis experts, call 1-800-294-9999 to speak to one of our knowledgeable coordinators who can help to connect you to the doctor that best meets your needs, or fill out an online appointment request form.