DISCOVERY: prevalence of transthyretin (TTR) mutations in a US-centric patient population suspected of having cardiac amyloidosis.
Ola AkinboboyeKeyur ShahAlberta L WarnerThibaud DamyHerman A TaylorJared GollobChristine PowellVerena KarstenJohn VestMathew S MaurerPublished in: Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis (2020)
Pathogenic TTR mutations occurred in 8% of US patients with suspected cardiac amyloidosis. Most mutations were Val122Ile, almost exclusively found in Black/African American patients. Disease often remains undetected until advanced and difficult to treat, therefore, clinicians should assess at-risk patients for hATTR amyloidosis as early as possible.