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Updated: Jun 14, 2025

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Advances in the Diagnosis and Management of Cardiac Amyloidosis: A Literature Review
Jordan Llerena-Velastegui1,2, Kristina Zumbana-Podaneva1,2
1Medical School, Pontifical Catholic University of Ecuador, Quito, Ecuador.
Insights
Cardiac amyloidosis impacts heart health and survival, necessitating better diagnostics and treatments. Emerging therapies like gene silencing and stabilization show promise for improving patient outcomes.
Area of Science:
- Cardiology
- Genetics
- Neurology
Background:
- Cardiac amyloidosis is a growing concern affecting heart health and survival.
- It's a key factor in cardiomyopathy and heart failure, often co-occurring with aortic stenosis and atrial fibrillation.
- Associated with increased dementia incidence.
Purpose of the Study:
- To review recent advancements in diagnosing and treating cardiac amyloidosis.
- To discuss the impact of new therapies on patient prognosis.
- To highlight the need for updated guidelines and research.
Main Methods:
- Literature review of major databases (PubMed, Scopus).
- Focus on research published between 2020 and 2024.
- Analysis of diagnostic challenges and therapeutic effectiveness.
Main Results:
- Complex pathophysiology and diagnostic challenges identified.
- Gene silencing therapies (patisiran, vutrisiran) show potential by targeting amyloidogenic protein production.
- Acoramidis stabilization therapy demonstrates promise in disease modification and outcome improvement.
Conclusions:
- Urgent need for updated clinical guidelines and further research.
- Advancing diagnostic accuracy and treatment effectiveness is crucial.
- Global collaboration is essential for improving patient outcomes in cardiac amyloidosis.
Abstract:
Cardiac amyloidosis, increasingly recognized for its significant impact on global heart health and patient survival, demands a thorough review to understand its complexity and the urgency of improved management strategies. As a cause of cardiomyopathy and heart failure, particularly in patients with aortic stenosis and atrial fibrillation, this condition also relates to higher incidences of dementia in the affected populations. The objective of this review was to integrate and discuss the latest advancements in diagnostics and therapeutics for cardiac amyloidosis, emphasizing the implications for patient prognosis. We evaluated the latest literature from major medical databases such as PubMed and Scopus, focusing on research from 2020 to 2024, to gather comprehensive insights into the current landscape of this condition. Insights from our review highlight the complex pathophysiology of cardiac amyloidosis and the diagnostic challenges it presents. We detail the effectiveness of emerging treatments, notably gene silencing therapies like patisiran and vutrisiran, which offer transformative potential by targeting the production of amyloidogenic proteins. Additionally, the stabilization therapy acoramidis shows promise in modifying disease progression and improving clinical outcomes. This review underscores the critical need for updated clinical guidelines and further research to expand access to groundbreaking therapies and enhance disease management. Advocating for continued research and policy support, we emphasize the importance of advancing diagnostic precision and treatment effectiveness, which are vital for improving patient outcomes and addressing this debilitating disease globally.
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