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Clinical Diagnostic and Therapeutic Approaches in Cardiac Amyloidosis
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Clinical Diagnostic and Therapeutic Approaches in Cardiac Amyloidosis

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Cardiology".

Deadline for manuscript submissions: closed (25 January 2026) | Viewed by 4754

Special Issue Editor

Dr. Grigorios Giamouzis

E-Mail Website
Guest Editor
Department of Cardiology, University Hospital of Larissa, Faculty of Medicine, University of Thessaly, 41110 Larissa, Greece
Interests: heart failure; coronary artery disease; chronic heart failure; interventional cardiology; PCI; cardiac Catheterization; acute heart failure; myocardial infarction; acute myocardial infarction; cardiac function

Special Issue Information

Dear Colleagues,

Cardiac amyloidosis is a progressive and potentially fatal condition characterized by the deposition of amyloid fibrils in the heart, leading to restrictive cardiomyopathy and heart failure. Early diagnosis and targeted therapy are critical for improving outcomes. This Special Issue, "Clinical Diagnostic and Therapeutic Approaches in Cardiac Amyloidosis", aims to provide a comprehensive overview of the latest developments in the diagnosis and treatment of cardiac amyloidosis. We invite contributions that explore a wide range of topics related to cardiac amyloidosis, including original research articles, and reviews. We aim to provide valuable insights that will guide clinicians in improving the diagnosis and treatment of cardiac amyloidosis.

Dr. Grigorios Giamouzis
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • cardiac amyloidosis
  • transthyretin amyloidosis
  • hypertrophic cardiomyopathy
  • cardiac imaging
  • heart failure

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Published Papers (2 papers)

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Review

16 pages, 824 KB  
Review
Emerging Pharmacological Strategies for Cardiac Amyloidosis: A Qualitative Analysis of Interventional Clinical Trials Registered on ClinicalTrials.Gov
by Maan H. Harbi and Yahya A. Alzahrani
J. Clin. Med. 2026, 15(4), 1499; https://doi.org/10.3390/jcm15041499 - 14 Feb 2026
Viewed by 406
Abstract
Introduction: Cardiac amyloidosis, primarily comprising transthyretin amyloid cardiomyopathy (ATTR-CM) and light-chain amyloidosis with cardiac involvement (AL-cardiac), is an increasingly recognized contributor to the global heart failure burden. Management has shifted from supportive care to disease-modifying agents targeting specific stages of the amyloid cascade. [...] Read more.
Introduction: Cardiac amyloidosis, primarily comprising transthyretin amyloid cardiomyopathy (ATTR-CM) and light-chain amyloidosis with cardiac involvement (AL-cardiac), is an increasingly recognized contributor to the global heart failure burden. Management has shifted from supportive care to disease-modifying agents targeting specific stages of the amyloid cascade. This registry-based review qualitatively characterizes the current pharmacological clinical trial landscape through a registry-based analysis. Methods: A structured qualitative analysis of ClinicalTrials.gov was conducted for interventional trials registered between January 2015 and November 2025. Following PRISMA principles, studies were screened to include pharmacological interventions with explicit cardiac targeting while excluding neuropathy-dominant amyloidosis. Trial-level data regarding therapeutic classes, study phases, enrollment, and primary outcome domains were extracted and synthesized. Results: A total of 18 trials met the inclusion criteria (14 ATTR-CM; 4 AL-cardiac), representing a total enrollment of 4924 participants across 11 unique agents. Five therapeutic classes were identified: amyloid-clearing monoclonal antibodies (44.4% of trials), TTR silencers, TTR stabilizers, fibril-modifying agents, and cardiac phenotype-directed therapies. Monoclonal antibodies represented the largest class by both trial count and enrollment (3075 participants). Clinical events (n = 7) and safety/tolerability (n = 5) were the most frequent primary outcome domains. ATTR-CM trials dominated the landscape, accounting for 77.7% of the total study population, while parallel-group placebo-controlled designs were the most common study architecture (n = 10). Conclusions: The therapeutic landscape for cardiac amyloidosis is transitioning toward stage-specific, mechanism-based interventions. While ATTR-CM currently dominates research efforts, the expansion of silencers and monoclonal antibodies reflects an increasing capacity to intercept the amyloid cascade at distinct molecular checkpoints. However, significant heterogeneity in outcome measures and the shift toward diagnosing milder disease pose challenges for demonstrating clinical efficacy. Future priorities include standardized progression markers and addressing barriers to global access for these high-cost therapies. Full article
(This article belongs to the Special Issue Clinical Diagnostic and Therapeutic Approaches in Cardiac Amyloidosis)
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16 pages, 802 KB  
Review
Transthyretin Amyloid Cardiomyopathy Treatment: An Updated Review
by Dinusha Wanniarachchige, Shazli Khan and Stephen Pan
J. Clin. Med. 2025, 14(17), 6089; https://doi.org/10.3390/jcm14176089 - 28 Aug 2025
Cited by 1 | Viewed by 4117
Abstract
Transthyretin amyloid cardiomyopathy (ATTR-CM) is a progressive form of restrictive cardiomyopathy caused by the misfolding and deposition of transthyretin protein. What was once a condition that had little by way of treatment other than liver transplantation has now become a manageable disease due [...] Read more.
Transthyretin amyloid cardiomyopathy (ATTR-CM) is a progressive form of restrictive cardiomyopathy caused by the misfolding and deposition of transthyretin protein. What was once a condition that had little by way of treatment other than liver transplantation has now become a manageable disease due to revolutionary novel therapies. This review outlines therapeutic strategies aimed at halting or reversing disease progression. Current approaches include transthyretin (TTR) stabilizers such as tafamidis and acoramidis, as well as TTR silencers such as vutisiran. In addition, novel therapies under clinical investigation are emerging, such as gene-editing strategies and monoclonal antibodies targeting amyloid deposits. The aim of this paper is to investigate the current literature and ongoing clinical trials exploring treatment options for ATTR-CM. Transthyretin stabilizers and RNA silencers improve survival, functional capacity, and quality of life. Early-phase studies of gene-editing and monoclonal antibody therapies demonstrate promising amyloid-lowering effects. Stabilizers and silencers continue to constitute the standard therapy, while gene-editing and monoclonal antibodies offer potential as future treatments. The advent of a multitude of therapies for ATTR-CM holds promise for a future of targeted, personalized medicine for the treatment of this not-so-uncommon cause of heart failure. Full article
(This article belongs to the Special Issue Clinical Diagnostic and Therapeutic Approaches in Cardiac Amyloidosis)
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