Opportunities for Earlier Diagnosis and Treatment of Cardiac Amyloidosis

Methodist Debakey Cardiovasc J. 2022 Dec 6;18(5):27-39. doi: 10.14797/mdcvj.1163. eCollection 2022.

Abstract

Despite the rapid expansion of noninvasive (nonbiopsy) diagnosis, contemporary patients with cardiac amyloidosis too often present with advanced features of disease, such as diminished quality of life, elevated natriuretic peptides, and advanced heart failure. Therapeutics for transthyretin cardiomyopathy (ATTR-CM) are most effective when administered before significant symptoms of cardiac dysfunction manifest, making early identification of affected individuals of paramount importance. Community engagement and ensuring that a broad range of clinicians have working knowledge of how to screen for ATTR-CM in everyday practice will be an important step in moving disease identification further upstream. However, reliance on the appropriate and timely diagnosis by individual clinicians may continue to underperform. This review highlights how targeted screening of special populations may facilitate earlier diagnosis. Systems of care that operationalize screening of high-risk subpopulations and prospective validation of novel approaches to ATTR-CM identification are needed.

Keywords: amyloidosis; cardiomyopathy; early diagnosis; screening; transthyretin amyloid.

Publication types

  • Review

MeSH terms

  • Amyloid Neuropathies, Familial* / diagnosis
  • Amyloid Neuropathies, Familial* / therapy
  • Cardiomyopathies* / diagnosis
  • Cardiomyopathies* / therapy
  • Heart Diseases*
  • Heart Failure* / diagnosis
  • Heart Failure* / therapy
  • Humans
  • Quality of Life

Grants and funding

Dr. Martyn is supported by a young investigator grant from Ionis Therapeutics Inc. related to amyloidosis research. The Cleveland Clinic Amyloidosis Registry is supported by Dr. Hanna’s Term Chair for Amyloid Heart Disease.