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Amyloid: From Heart to Brain
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Amyloid: From Heart to Brain

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

Deadline for manuscript submissions: 15 August 2025 | Viewed by 2859

Special Issue Editors

Prof. Dr. Filippos Triposkiadis

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Guest Editor
Department of Cardiology, University Hospital of Larissa, 41110 Larissa, Greece
Interests: invasive cardiology; heart failure; intensive care
Special Issues, Collections and Topics in MDPI journals
Dr. Andrew Xanthopoulos

E-Mail Website
Guest Editor
Department of Cardiology, University Hospital of Larissa, 41110 Larissa, Greece
Interests: heart failure; acute heart failure; chronic heart failure; LVAD; heart transplantation; amyloidosis; devices; pulmonary hypertension
Special Issues, Collections and Topics in MDPI journals
Dr. Alexandros Briasoulis

E-Mail Website
Guest Editor
1. Division of Cardiovascular Medicine Section of Advanced Heart Failure and Transplant, University of Iowa Hospitals and Clinics, Iowa City, IA, USA
2. Cardiology Department, Alexandra Hospital, Athens, Greece
Interests: cardiovascular medicine; heart failure; heart transplant
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The heart and the brain are two organs that closely interact with each other and share common risk factors (i.e. hypertension, diabetes mellitus, atrial fibrillation, heart failure, etc.). Brain affects the heart and vice versa, whereas brain and cardiac dysfunction often coexist. Cognitive function is linked with the patient’s quality of life, functional capacity, and risk of hospitalization. Cardiovascular risks have been shown to be associated with cognitive impairment and dementia. On the other hand, cognitive dysfunction (especially when it is unrecognized) in heart failure patients is associated with adverse outcomes. Deposition of amyloid in the heart (amyloidosis) and the brain (Alzheimer’s disease) are typical examples. A better understanding of interactions within the heart–brain axis is needed to improve management and prognosis of heart failure patients. In this Special Issue, we welcome authors to submit papers (original research, review, meta-analyses) on the bidirectional relationship between the heart and the brain.

Prof. Dr. Filippos Triposkiadis
Dr. Andrew Xanthopoulos
Dr. Alexandros Briasoulis
Guest Editors

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 100 words) can be sent to the Editorial Office for announcement on this website.

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

  • amyloid
  • heart
  • brain
  • interactions
  • small vessel disease
  • takotsubo
  • Alzheimer’s disease

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Published Papers (4 papers)

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Research

Jump to: Review

12 pages, 925 KiB  
Article
Deterioration of Myocardial Global Longitudinal Strain and Its Relationship with Arterial Stiffness in Patients with Cardiac Amyloidosis: A Six-Month Follow-Up
by Dafni Korela, Emmanouil Foukarakis, Anthοula Plevritaki, Spyros Maragkoudakis, Ioannis Anastasiou, Alexandros Patrianakos, Nikolaos Kapsoritakis, Sophia Koukouraki, Olga Bourogianni, Charalampos Pontikoglou, Maria Psillaki, Helen A. Padadaki, Ioannis Zaganas, Dimitris Samonakis, Eustathios Detorakis, Ioannis Petrakis, Kostas Stylianou, Gregory Chlouverakis, Emmanouil Giannakoudakis, Emmanouil Simantirakis, George Kochiadakis and Maria Marketouadd Show full author list remove Hide full author list
J. Clin. Med. 2025, 14(6), 2078; https://doi.org/10.3390/jcm14062078 - 18 Mar 2025
Viewed by 298
Abstract
Background: Cardiac amyloidosis (CA) is a progressive disorder characterized by amyloid fibril deposition in the heart, leading to heart failure and arrhythmias. Arterial stiffness, assessed by pulse wave velocity (PWV), is recognized as an adverse consequence of amyloidosis, yet its progression and relationship [...] Read more.
Background: Cardiac amyloidosis (CA) is a progressive disorder characterized by amyloid fibril deposition in the heart, leading to heart failure and arrhythmias. Arterial stiffness, assessed by pulse wave velocity (PWV), is recognized as an adverse consequence of amyloidosis, yet its progression and relationship with myocardial dysfunction remain inadequately explored. This study examines the progression of PWV and its potential association with the deterioration of global longitudinal strain (GLS) in CA patients over a 6-month follow-up period. Methods: This prospective study enrolled 31 patients who were diagnosed with CA, including both the immunoglobulin light chain (AL) and transthyretin (ATTR) forms. All participants underwent a full echocardiographic study and PWV measurements (carotid-femoral [c-f] and carotid-radial [c-r] PWV) at baseline and 6-month follow-up. Age- and sex-matched individuals with similar cardiovascular risk factors were included as a control group. Results: In the CA group, the left ventricular mass index (LVMI) increased significantly from 119.4 ± 52.1 to 124 ± 53.2 g/m2 (p = 0.002). Both c-f and c-r PWV showed significant increases at the 6-month follow-up (p < 0.001 and p = 0.005, respectively). The GLS deteriorated significantly from −14 ± 4.4% to −12.8 ± 4.9% (p = 0.018). No significant changes were observed in the control group. A weak correlation (r = 0.3; p = 0.095) was found between increases in PWV and GLS deterioration. Conclusions: Both arterial stiffness and myocardial dysfunction worsen rapidly in CA patients. However, the weak correlation between PWV and GLS suggests that they may evolve through independent mechanisms, necessitating further research to understand their complex interplay in CA. Full article
(This article belongs to the Special Issue Amyloid: From Heart to Brain)
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Review

Jump to: Research

27 pages, 1384 KiB  
Review
A Tale of Two Diseases: Decoding Aortic Stenosis and Cardiac Amyloidosis
by Ioannis Gialamas, George E. Zakynthinos, George Dimeas, Panteleimon Pantelidis, Elias Gialafos, Styliani Brili, Athina Goliopoulou, Ourania Katsarou, Elsi Tryfou, Konstantinos Kalogeras, Gerasimos Siasos and Evangelos Oikonomou
J. Clin. Med. 2025, 14(8), 2652; https://doi.org/10.3390/jcm14082652 - 12 Apr 2025
Viewed by 384
Abstract
Background/Objectives: Transthyretin cardiac amyloidosis (ATTR-CA) is an infiltrative cardiomyopathy caused by transthyretin (TTR) amyloid deposition in the myocardium, increasingly recognized in patients with aortic stenosis (AS). This study aims to investigate the diagnostic challenges and therapeutic strategies for patients with both conditions, focusing [...] Read more.
Background/Objectives: Transthyretin cardiac amyloidosis (ATTR-CA) is an infiltrative cardiomyopathy caused by transthyretin (TTR) amyloid deposition in the myocardium, increasingly recognized in patients with aortic stenosis (AS). This study aims to investigate the diagnostic challenges and therapeutic strategies for patients with both conditions, focusing on shared pathophysiological mechanisms and key diagnostic indicators. Methods: A multimodal diagnostic approach was applied, utilizing cardiac magnetic resonance (CMR) and bone scintigraphy with technetium-99m-labeled tracers to assess AS patients with suspected ATTR-CA. Clinical signs, such as disproportionate heart failure symptoms, conduction abnormalities, and low-flow, low-gradient AS, were evaluated. Electrocardiographic findings, including low-voltage QRS complexes and pseudo-infarction patterns, were also assessed. Treatment options, including transcatheter aortic valve replacement (TAVR) and emerging pharmacotherapies for ATTR-CA, were analyzed. Results: The study found that ATTR-CA is increasingly prevalent in AS patients, with shared mechanisms like oxidative stress and amyloid-induced tissue remodeling. Key diagnostic signs include disproportionate heart failure symptoms, conduction abnormalities, and specific electrocardiographic patterns. TAVR was effective in both isolated AS and AS with ATTR-CA, although patients with both conditions had a higher risk of heart failure hospitalization and persistent symptoms. Emerging pharmacotherapies, such as TTR stabilizers and gene-silencing agents, showed promise in slowing disease progression. Conclusions: A multimodal diagnostic approach is essential for the early detection of ATTR-CA in AS patients. Combining TAVR with emerging pharmacotherapies may improve long-term outcomes for this high-risk group, enhancing patient care in those with both conditions. Full article
(This article belongs to the Special Issue Amyloid: From Heart to Brain)
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22 pages, 4408 KiB  
Review
Transthyretin Amyloid Cardiomyopathy: Current Diagnostic Approach and Risk Stratification with Multimodality Imaging
by Georgios Tziomalos, Thomas Zegkos, Eleftheria Baltagianni, Maria-Anna Bazmpani, Paraskevi Exadaktylou, Despoina Parcharidou, Thomas Gossios, Argyrios Doumas, Theodoros Karamitsos, Vassilios Vassilikos, Georgios Efthimiadis, Antonios Ziakas and Vasileios Kamperidis
J. Clin. Med. 2025, 14(6), 2014; https://doi.org/10.3390/jcm14062014 - 16 Mar 2025
Viewed by 544
Abstract
Amyloidosis is an infiltrative disease that may cause cardiomyopathy if the precursor protein that misfolds and forms the amyloid is transthyretic or plasma abnormal light chains. Transthyretin amyloid cardiomyopathy has to be diagnosed timely and accurately since there are specific treatment options to [...] Read more.
Amyloidosis is an infiltrative disease that may cause cardiomyopathy if the precursor protein that misfolds and forms the amyloid is transthyretic or plasma abnormal light chains. Transthyretin amyloid cardiomyopathy has to be diagnosed timely and accurately since there are specific treatment options to support the patients. Multimodality imaging including electrocardiography, echocardiography with strain imaging and cardiac magnetic resonance applying late gadolinium enhancement imaging, native T1 mapping and extracellular volume, raise a high suspicion of the disease and bone scintigraphy set the diagnosis even without the need of biopsy. However, the morbidity and mortality remain high and the need for risk stratification and assessment of the response to treatment are of paramount importance. Cardiac imaging biomarkers offer a thoughtful insight into the prognosis of these patients at diagnosis and after treatment. The current narrative review aims to enlighten the use of multimodality cardiac imaging in transthyretic amyloid cardiomyopathy throughout the disease pathogenesis and evolution from diagnosis to prognosis and response to treatment in a personalized manner. Full article
(This article belongs to the Special Issue Amyloid: From Heart to Brain)
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20 pages, 2419 KiB  
Review
Amyloids and the Heart: An Update
by Filippos Triposkiadis, Alexandros Briasoulis and Andrew Xanthopoulos
J. Clin. Med. 2024, 13(23), 7210; https://doi.org/10.3390/jcm13237210 - 27 Nov 2024
Cited by 1 | Viewed by 1193
Abstract
Amyloids consist of fibrils that can be formed by a large variety of different precursor proteins. In localized amyloidosis, amyloids accumulate at the production site with a single organ being affected, whereas in systemic amyloidosis several organs are affected, with the heart being [...] Read more.
Amyloids consist of fibrils that can be formed by a large variety of different precursor proteins. In localized amyloidosis, amyloids accumulate at the production site with a single organ being affected, whereas in systemic amyloidosis several organs are affected, with the heart being the most common, followed by the kidneys, liver, and the nervous system. The two most frequent systemic amyloidosis types affecting the heart in the vast majority (>95%) of cases are immunoglobulin light chain (AL) amyloidosis and transthyretin (TTR) amyloidosis (ATTR amyloidosis). Patients with amyloid cardiopathy (CA) often present with non-specific heart failure symptoms as well as other clinical manifestations depending on the organ or systems involved. However, there are some findings associated with amyloidosis called “red flags” (clinical, echocardiographic, magnetic resonance imaging), which may assist in guiding the physician to the correct diagnosis. The present state-of-the-art review summarizes the features of the various cardiac phenotypic expressions of amyloidosis, proposes a simplified pathway for its diagnosis, and highlights the rapidly evolving therapeutic landscape. Full article
(This article belongs to the Special Issue Amyloid: From Heart to Brain)
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