Cardiac Amyloidosis

Causes and Symptoms of Transthyretin Amyloid Cardiomyopathy (ATTR-CM)

ATTR-CM occurs when transthyretin, a transport protein that naturally circulates in the blood, becomes unstable. The unstable protein misfolds, creating amyloid fibrils that can build up in the heart and other parts of the body. The buildup causes the heart muscle to stiffen over time, eventually leading to heart failure.^i, iv

ATTR-CM often presents with symptoms of heart failure, such as fatigue, shortness of breath and peripheral edema, but may also include other symptoms related to buildup of amyloid fibrils throughout the body. Often, the disease is diagnosed only after symptoms have become severe. ^{ii,iii, v, vi}

Receiving a correct diagnosis of ATTR-CM has historically been difficult because disease awareness is low, even among healthcare providers.^viii In fact, people living with ATTR-CM face delays in receiving the correct diagnosis, often waiting years after symptoms present.^v

Education, awareness and treatment are critical to improving the diagnosis and care of people affected by ATTR-CM.

Learn more from patients about their journeys to diagnosis, including the symptoms they experienced:

In addition to education and awareness, efforts are being made in artificial intelligence and machine learning to more quickly pinpoint and triage patients at risk of this rare disease and hopefully lead to an earlier diagnosis.

Two Sub-types of Transthyretin Amyloid Cardiomyopathy (ATTR-CM)

There are two forms of ATTR-CM, hereditary or variant (hATTR) and wild-type (wtATTR).^iv

The hereditary form of the disease is caused by a mutation in the transthyretin gene and is inherited from a relative. It can occur in both men and women as early as their 50s-60s.^{iv, viii}

The wild-type form, which is thought to be more common, usually affects men after age 60 and is associated with aging.^{i, iv, ix}

Hear more from cardiac amyloidosis heart heroes

Living with a rare or uncommon condition that affects the heart can feel isolating for patients, but they aren’t alone. These Heart Heroes are speaking up about their experiences living with ATTR-CM to help raise awareness and educate others, and also to help make connections with others in the cardiac amyloidosis community.