Amyloid transthyretin cardiac amyloidosis: diagnosis and management

ABSTRACT

Introduction: Cardiac amyloidosis is a disorder caused by the accumulation of abnormal protein products, amyloid, in the myocardium which subsequently impairs normal heart function. Heart failure with preserved ejection fraction has been increasingly attributed to amyloidosis and the resultant restrictive cardiomyopathy it creates.

Areas covered: Amyloid transthyretin (ATTR) is one of several identified amyloid products that have been pathologically implicated in cardiac amyloidosis through advanced diagnostics. Improvements in nuclear imaging techniques, particularly scintigraphy, have enabled non-invasive diagnosis where previously endomyocardial biopsy was the only option. Despite being considered a rare disease, it is likely that ATTR cardiac amyloidosis is an underdiagnosed condition which has been supported by autopsy findings in heart failure populations. This article will review ATTR cardiac amyloidosis to provide physicians with the tools they need to establish a definitive diagnosis when there is a clinical suspicion of amyloidosis and provide the most appropriate care.

Expert commentary: Increased awareness and improved diagnostic techniques will lead to earlier diagnosis and a greater understanding of the clinical presentation. The anticipated increases in the prevalence of this disease due to increased clinical awareness will require, and in-part, facilitate the development of new therapies to manage this patient population.

KEYWORDS:

• Amyloid
• cardiac amyloidosis
• cardiomyopathy
• heart failure
• noninvasive diagnosis
• pyrophosphate scintigraphy

Article highlights box

• ATTR cardiac amyloidosis is has been increasingly recognized as a cause of heart failure with preserved ejection fraction.

• Diagnosis of ATTR amyloidosis has become more accessible through advances in non-invasive diagnostic techniques, with technetium pyrophosphate scintigraphy playing a large role.

• Medical therapies for patients with wild-type and hereditary ATTR amyloidosis have been proven to be effective at halting disease progression and worsening of symptoms associated with amyloidosis.

• The type of amyloid is inherently important when deciding treatment options which make establishing a definitive diagnosis essential.

Declaration of interest

Diego H. Delgado is a member of the Canadian Advisory board for Akcea, Alnylam and Pfizer. He is prinicpal investigator for ATTR-ACT, ATTR-ACT ext and ENDEAVOUR studies and has a research grant from Pfizer Global. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

Reviewer disclosures

Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.

Additional information

Funding

This paper was not funded.