Abstract

Transthyretin amyloid cardiomyopathy (ATTR-CM) is a disease with high morbidity and mortality. This disease is significantly underdiagnosed and is more common than previously appreciated, particularly among older adults and people of African descent. This review discusses recent advances in the diagnosis and treatment for ATTR-CM. Historically, ATTR-CM was diagnosed via endomyocardial biopsy, a resource-intensive and invasive approach. However, in most cases, ATTR-CM can now be diagnosed non-invasively using bone tracer cardiac scintigraphy, which may facilitate earlier diagnosis. In recent clinical trials, a transthyretin stabilizer (tafamidis) and transthyretin gene silencers (patisiran and inotersen) have emerged as effective ATTR amyloidosis therapies and have been approved for use in the USA and many other countries. ATTR-CM is now recognized as an important cause of heart failure. Approaches to the diagnosis and treatment of ATTR-CM are rapidly evolving. Now, more than ever, there are opportunities to improve clinical care of patients with this challenging disease.

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