Cardiac Amyloidosis: Overlooked, Underappreciated, and Treatable

Jonah Rubin1, Mathew S Maurer1

  • 1Clinical Cardiovascular Research Laboratory for the Elderly, Columbia University Irving Medical Center, Allen Hospital of NewYork-Presbyterian Hospital, New York, NY 10032, USA; email: yonahrubin@gmail.com, msm10@cumc.columbia.edu.

Annual Review of Medicine
|January 28, 2020
PubMed

Insights

Cardiac amyloidosis (CA) is a serious heart condition often missed. New diagnostic tools and treatments are improving outcomes for transthyretin cardiac amyloidosis (ATTR-CA) and light chain cardiac amyloidosis (AL-CA).

Area of Science:

  • Cardiology
  • Internal Medicine
  • Genetics

Background:

  • Cardiac amyloidosis (CA) is an infiltrative cardiomyopathy leading to heart failure.
  • Two main subtypes exist: transthyretin (ATTR-CA) and light chain (AL-CA).
  • CA is underdiagnosed, particularly as a cause of heart failure with preserved ejection fraction.

Purpose of the Study:

  • To review the epidemiology, pathophysiology, diagnosis, prognosis, and management of CA.
  • To highlight recent advancements in CA diagnosis and treatment.
  • To discuss future directions in the field of CA.

Main Methods:

  • Literature review focusing on epidemiology, pathophysiology, diagnosis, prognosis, and management of CA.
  • Emphasis on recent diagnostic and therapeutic developments.
  • Synthesis of current knowledge and future perspectives.

Main Results:

  • Cardiac amyloidosis (CA) encompasses ATTR-CA (wild-type and variant) and AL-CA.
  • Nuclear scintigraphy enables non-biopsy diagnosis of ATTR-CA.
  • Emerging treatments include transthyretin stabilizers and silencers.

Conclusions:

  • Early and accurate diagnosis of CA is critical due to improved management options.
  • Recent advances in diagnostics and therapeutics are transforming CA care.
  • Further research and clinical attention are needed to address underdiagnosis and optimize patient outcomes.

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