Amyloid cardiomyopathy is emerging as an important and under-recognised cause of heart
failure and cardiac arrhythmias, especially in older adults. This disorder is characterised
by extracellular deposition of amyloid fibrils that form due to misfolding of secreted
light chains (AL) or transthyretin protein (ATTR). In ATTR, amyloid aggregates typically
result from excessive accumulation of wild-type transthyretin (ATTRwt) or from protein
structural defects caused by TTR gene variants (ATTRv). Amyloid fibril deposition may predominantly affect the heart
or show multi-system involvement. Previously considered to be rare and inexorably
progressive with no specific therapy, there has been enormous recent interest in ATTR
cardiomyopathy due to upwardly-revised estimates of disease prevalence together with
development of disease-modifying interventions. Because of this, there is a clinical
imperative to have a high index of suspicion to identify potential cases and to be
aware of contemporary diagnostic methods and treatment options. Genetic testing should
be offered to all patients with proven ATTR to access the benefits of new therapies
specific to ATTRv and allow predictive testing of family members. With heightened
awareness of amyloid cardiomyopathy and expanded use of genetic testing, a substantial
rise in the numbers of asymptomatic individuals who are carriers of pathogenic variants
is expected, and optimal strategies for monitoring and treatment of these individuals
at risk need to be determined. Pre-emptive administration of fibril-modifying therapies
provides an unprecedented opportunity for disease prevention and promises to change
amyloid cardiomyopathy from being a fatal to a treatable disorder.
Keywords
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Article info
Publication history
Published online: December 11, 2019
Accepted:
November 29,
2019
Received in revised form:
November 23,
2019
Received:
October 29,
2019
Identification
Copyright
© 2019 Australian and New Zealand Society of Cardiac and Thoracic Surgeons (ANZSCTS) and the Cardiac Society of Australia and New Zealand (CSANZ). Published by Elsevier B.V. All rights reserved.
