Transthyretin Amyloid Cardiomyopathy: JACC State-of-the-Art Review

Frederick L. Ruberg, Martha Grogan, Mazen Hanna, Jeffery W. Kelly, Mathew S. Maurer

Research output: Contribution to journalReview article

38 Scopus citations

Abstract

Transthyretin amyloid cardiomyopathy (ATTR-CM)is an under-recognized cause of heart failure (HF)in older adults, resulting from myocardial deposition of misfolded transthyretin (TTR)or pre-albumin. Characteristic patterns of echocardiography and cardiac magnetic resonance can strongly suggest the disease but are not diagnostic. The diagnosis can be made with noninvasive nuclear imaging when there is no evidence of a monoclonal protein. Amyloid fibril formation results from a destabilizing mutation in hereditary ATTR amyloidosis (hATTR)or from an aging-linked process in wild-type ATTR amyloidosis (wtATTR). Recent studies have suggested that up to 10% to 15% of older adults with HF may have unrecognized wtATTR. Associated features, including carpal tunnel syndrome and lumbar spinal stenosis, raise suspicion and may afford a means for early diagnosis. Previously treatable only by organ transplantation, pharmaceutical therapy that slows or halts ATTR-CM progression and favorably affects clinical outcomes is now available. Early recognition remains essential to afford the best treatment efficacy.

Original languageEnglish (US)
Pages (from-to)2872-2891
Number of pages20
JournalJournal of the American College of Cardiology
Volume73
Issue number22
DOIs
StatePublished - Jun 11 2019

    Fingerprint

Keywords

  • amyloidosis
  • cardiomyopathy
  • transthyretin

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this