ATTR‑CM Resources

Consider sharing these resources with your patients:

Amyloidosis Alliance Worldwide alliance of amyloidosis patient organizations and support groups looking to make contributions to the quality of care of amyloidosis patients
External link
Amyloidosis Foundation Patient advocacy organization committed to supporting patients and increasing awareness of all types of systemic amyloidosis
External link
Amyloidosis Research Consortium Global patient advocacy organization working to accelerate the development of and access to new and innovative treatments for amyloidosis
External link
Amyloidosis Support Groups Patient advocacy organization dedicated to providing peer group support to patients, caregivers, families, and friends of those touched by amyloidosis
External link
Mackenzie's Mission Patient advocacy organization focused on raising disease awareness and supporting amyloidosis medical research
External link
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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.1,2

ATTRv-CM – Variant (also known as hereditary, ATTRv-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.1

ATTRwt-CM – Wild-type transthyretin amyloid cardiomyopathy. A form of ATTR-CM in which spontaneous destabilization of the transthyretin protein occurs due to aging.1

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.3-5

T119M – A naturally occurring, superstabilizing variant of the transthyretin protein shown to protect against severe manifestations of ATTR.6,7

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.8,9

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.10

References:
1.

Kittleson MM, et al. Cardiac Amyloidosis: Evolving Diagnosis and Management: A Scientific Statement from the American Heart Association. Circulation. 2020;142(1):e7-e22. 2. Garcia-Pavia P, et al. Expert Consensus on the Monitoring of Transthyretin Amyloid Cardiomyopathy. Eur J Heart Fail. 2021;23(6):895-905. 3. Oghina S, et al. Prognostic Value of N-Terminal Pro-Brain Natriuretic Peptide and High-Sensitivity Troponin T Levels in the Natural History of Transthyretin Amyloid Cardiomyopathy and Their Evolution After Tafamidis Treatment. J Clin Med. 2021;10(21):4868. 4. Law S, et al. Change in N-terminal Pro-B-Type Natriuretic Peptide at 1 Year Predicts Mortality in Wild-Type Transthyretin Amyloid Cardiomyopathy. Heart. 2022;108(6):474-478. 5. Mueller C, et al. Heart Failure Association of the European Society of Cardiology Practical Guidance on the Use of Natriuretic Peptide Concentrations. Eur J Heart Fail. 2019;21(6):715-731. 6. Hammarström P, et al. Sequence-dependent Denaturation Energetics: A Major Determinant in Amyloid Disease Diversity. Proc Natl Acad Sci USA. 2002;99(Suppl 4):16427-32. 7. Hornstrup LS, et al. Genetic Stabilization of Transthyretin, Cerebrovascular Disease, and Life Expectancy. Arterioscler Thromb Vasc Biol. 2013;33(6):1441-7. 8. Liz MA, et al. A Narrative Review of the Role of Transthyretin in Health and Disease. Neurol Ther. 2020;9(2):395-402. 9. Vieira M and Saraiva MJ. Transthyretin: A Multifaceted Protein. Biomol Concepts. 2014;5(1):45-54. 10. Buxbaum JN, Ruberg FL. Transthyretin V122I (pV142I)* Cardiac Amyloidosis: An Age-Dependent Autosomal Dominant Cardiomyopathy Too Common to be Overlooked as a Cause of Significant Heart Disease in Elderly African Americans. Genet Med. 2017;19(7):733-742.