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.
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.
Abstract:
Cardiac amyloidosis (CA) is an infiltrative and restrictive cardiomyopathy that leads to heart failure, reduced quality of life, and death. The disease has two main subtypes, transthyretin cardiac amyloidosis (ATTR-CA) and immunoglobulin light chain cardiac amyloidosis (AL-CA), characterized by the nature of the infiltrating protein. ATTR-CA is further subdivided into wild-type (ATTRwt-CA) and variant (ATTRv-CA) based on the presence or absence of a mutation in the transthyretin gene. CA is significantly underdiagnosed and increasingly recognized as a cause of heart failure with preserved ejection fraction. Advances in diagnosis that employ nuclear scintigraphy to diagnose ATTR-CA without a biopsy and the emergence of effective treatments, including transthyretin stabilizers and silencers, have changed the landscape of this field and render early and accurate diagnosis critical. This review summarizes the epidemiology, pathophysiology, diagnosis, prognosis, and management of CA with an emphasis on the significance of recent developments and suggested future directions.
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