Screening for Transthyretin Amyloid Cardiomyopathy in Everyday Practice

JACC Heart Fail. 2019 Aug;7(8):709-716. doi: 10.1016/j.jchf.2019.04.010. Epub 2019 Jul 10.

Abstract

Transthyretin amyloid cardiomyopathy (ATTR-CM) is a life-threatening, progressive, infiltrative disease caused by the deposition of transthyretin amyloid fibrils in the heart, and can often be overlooked as a common cause of heart failure. Delayed diagnosis due to lack of disease awareness and misdiagnosis results in a poorer prognosis. Early accurate diagnosis is therefore key to improving patient outcomes, particularly in the context of both the recent approval of tafamidis in some countries (including the United States) for the treatment of ATTR-CM, and of other promising therapies under development. With the availability of scintigraphy as an inexpensive, noninvasive diagnostic tool, the rationale to screen for ATTR-CM in high-risk populations of patients is increasingly warranted. Here the authors propose a framework of clinical scenarios in which screening for ATTR-CM is recommended, as well as diagnostic "red flags" that can assist in its diagnosis among the wider population of patients with heart failure.

Keywords: amyloidosis; cardiomyopathy; diagnosis; identification; transthyretin amyloid.

Publication types

  • Review

MeSH terms

  • Age Factors
  • Amyloid Neuropathies, Familial / complications
  • Amyloid Neuropathies, Familial / diagnosis*
  • Amyloid Neuropathies, Familial / drug therapy
  • Amyloid Neuropathies, Familial / physiopathology
  • Benzoxazoles / therapeutic use
  • Cardiomyopathies / complications
  • Cardiomyopathies / diagnosis*
  • Cardiomyopathies / drug therapy
  • Cardiomyopathies / physiopathology
  • Delayed Diagnosis
  • Diagnostic Errors
  • Early Diagnosis
  • Early Medical Intervention
  • Heart Failure / diagnosis*
  • Heart Failure / etiology
  • Heart Failure / physiopathology
  • Humans
  • Stroke Volume

Substances

  • Benzoxazoles
  • tafamidis

Supplementary concepts

  • Amyloidosis, Hereditary, Transthyretin-Related