Related Experiment Video
Updated: Aug 24, 2025

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Untangling Amyloidosis: Recent Advances in Cardiac Amyloidosis
Darae Kim1, Jin-Oh Choi1, Kihyun Kim2
1Division of Cardiology, Department of Medicine, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Insights
Cardiac amyloidosis (CA), a common cause of heart failure, is increasingly treatable. Early diagnosis of amyloid light-chain (AL) and amyloid transthyretin (ATTR) CA is key for effective disease-modifying therapies and improved patient survival.
Area of Science:
- Cardiology
- Internal Medicine
- Medical Diagnostics
Background:
- Cardiac amyloidosis (CA) is an underdiagnosed cause of heart failure.
- Amyloid light-chain (AL) and amyloid transthyretin (ATTR) are the primary subtypes of CA.
- Amyloid deposits impair cardiac function through mechanical infiltration and cardiotoxicity.
Purpose of the Study:
- To highlight the importance of recognizing "red flag symptoms" for timely CA diagnosis.
- To discuss advancements in non-invasive diagnostic methods, particularly for ATTR CA.
- To review current and emerging treatment options for AL and ATTR CA.
Main Methods:
- Review of current literature on cardiac amyloidosis diagnosis and management.
- Emphasis on clinical presentation and diagnostic red flags.
- Discussion of evolving non-invasive imaging techniques and therapeutic strategies.
Main Results:
- Timely diagnosis of CA is crucial for initiating disease-modifying therapies.
- Non-biopsy diagnosis is increasingly feasible for ATTR CA with advanced imaging.
- Significant treatment advancements have improved survival rates for both AL and ATTR CA.
Conclusions:
- Cardiac amyloidosis is a treatable condition with recent diagnostic and therapeutic progress.
- Multidisciplinary team approaches are essential for managing this systemic disease.
- Increased physician awareness of CA red flags can improve patient outcomes.
Abstract:
Cardiac amyloidosis (CA) is a highly underdiagnosed cause of heart failure. Amyloid light-chain (AL) and amyloid transthyretin (ATTR) cardiomyopathy are two major subtypes of cardiac amyloid. Amyloid fibril deposits cause cardiac dysfunction by mechanically infiltrating the myocardium or by direct cardiotoxicity. Achieving a timely diagnosis is important to initiate disease-modifying therapies and improve the survival of patients with CA. Therefore, physicians must be aware of "red flag symptoms" that increase suspicions for CA when assessing heart failure patients. Although endomyocardial biopsy is a definitive diagnostic tool, with recent advances in non-invasive imaging, non-biopsy diagnosis is feasible in ATTR CA. There have been major advances in treatments for both AL and ATTR CA, and survival of CA has improved. In addition to general management of heart failure, numerous treatment options are increasing for both AL and ATTR CA. Given the systemic nature of amyloids, multi-disciplined team approaches are crucial to management of CA. With recent development of diagnosis and treatment options for both AL and ATTR amyloidosis, it is no longer considered a non-treatable disease.
Related Concept Videos
Cardiomyopathy V: Interprofessional Care
Cardiomyopathy II: Dilated Cardiomyopathy
Cardiomyopathy IV: Restrictive Cardiomyopathy
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Cardiomyopathy I: Introduction and Classification

