ATTR‑CM Resources

ATTR-CM – Transthyretin amyloid cardiomyopathy. ATTR-CM is a progressive condition that mimics heart disease. It is caused when the protein transthyretin (TTR) destabilizes and misfolds into toxic amyloid fibrils that accumulate in the myocardium.

ATTRv-CM – Variant (also known as hereditary, ATTRh-CM) transthyretin amyloid cardiomyopathy. A form of ATTR-CM caused by destabilized amino acid variants in the transthyretin (TTR) protein, which leads to the development of amyloid fibrils.

ATTRwt-CM – Wild-type transthyretin amyloid cardiomyopathy. A form of ATTR-CM in which spontaneous destabilization of the transthyretin protein occurs due to aging.

NT-proBNP – N-terminal pro-B-type natriuretic peptide. A protein secreted by the heart in response to
stress. Elevated levels of NT-proBNP have been associated with an increased risk for mortality and hospitalization in patients with ATTR-CM. Lower levels of NT-proBNP indicate better cardiac function.

T119M – A naturally occurring, super stabilizing variant of the transthyretin protein shown to protect against severe manifestations of ATTR.

TTR – Transthyretin, also known as prealbumin. A key transport protein for retinol binding protein (vitamin A) and thyroxine (thyroid hormone) in the blood. TTR is primarily produced in the liver and adopts a tetrameric structure to transport cargo through the body.

V122I – One of the most common pathogenic variants of the transthyretin protein, occurring in 3%-4% of Black Americans. This variant has been associated with severe congestive heart failure.