Myocardial Amyloidosis: The Exemplar Interstitial Disease

JACC Cardiovasc Imaging. 2019 Nov;12(11 Pt 2):2345-2356. doi: 10.1016/j.jcmg.2019.06.023. Epub 2019 Aug 14.

Abstract

Cardiac involvement drives prognosis and treatment choices in cardiac amyloidosis. Echocardiography is the first-line examination for patients presenting with heart failure, and it is the imaging modality that most often raises the suspicion of cardiac amyloidosis. Echocardiography can provide an assessment of the likelihood of cardiac amyloid infiltration versus other hypertrophic phenocopies and can assess the severity of cardiac involvement. Visualizing myocardial amyloid infiltration is challenging and, until recently, was restricted to the domain of the pathologist. Two tests are transforming this: cardiac magnetic resonance (CMR) imaging and bone scintigraphy. After the administration of contrast, CMR is highly sensitive and specific for the 2 main types of ventricular myocardial amyloidosis, light chain amyloidosis (AL) and transthyretin amyloidosis (ATTR). CMR structural and functional assessment combined with tissue characterization can redefine cardiac involvement by tracking different disease processes, ranging from amyloid infiltration, to the myocardial response associated with amyloid deposition, through the visualization and quantification of myocardial edema and myocyte response. Bone scintigraphy (paired with exclusion of serum free light chains) is emerging as the technique of choice for distinguishing ATTR from light chain cardiac amyloidosis and other cardiomyopathies; it has transformed the diagnostic pathway for ATTR, allowing noninvasive diagnosis of ATTR without the need for a tissue biopsy in the majority of patients. CMR with tissue characterization and bone scintigraphy are rewriting disease understanding, classification, and definition, and leading to a change in patient care.

Keywords: cardiac amyloidosis; cardiac imaging; light chain amyloidosis; transthyretin amyloidosis.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Amyloid Neuropathies, Familial / diagnostic imaging*
  • Amyloid Neuropathies, Familial / pathology
  • Amyloid Neuropathies, Familial / physiopathology
  • Cardiomyopathies / diagnostic imaging*
  • Cardiomyopathies / pathology
  • Cardiomyopathies / physiopathology
  • Diagnosis, Differential
  • Extracellular Space
  • Fibrosis
  • Humans
  • Immunoglobulin Light-chain Amyloidosis / diagnostic imaging*
  • Immunoglobulin Light-chain Amyloidosis / pathology
  • Immunoglobulin Light-chain Amyloidosis / physiopathology
  • Magnetic Resonance Imaging*
  • Myocardium / pathology*
  • Predictive Value of Tests
  • Radionuclide Imaging*
  • Reproducibility of Results
  • Ventricular Remodeling

Supplementary concepts

  • Amyloidosis, Hereditary, Transthyretin-Related