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Cardiomyopathies: State of the Art Knowledge
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Cardiomyopathies: State of the Art Knowledge

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

Deadline for manuscript submissions: closed (10 June 2023) | Viewed by 5330

Special Issue Editors

Dr. Angelo Silverio

E-Mail Website
Guest Editor
Department of Medicine, Surgery and Dentistry; University Study of Salerno, 84081 Baronissi, Italy
Interests: interventional cardiology; cardiomyopathies; myocardial and pericardial disease
Dr. Michele Bellino

E-Mail Website
Guest Editor
Department of Medicine, Surgery and Dentistry, University of Salerno, 84081 Baronissi, Italy
Interests: cardiomyopathies; myocardial and pericardial disease; interventional cardiology
Dr. Rodolfo Citro

E-Mail Website
Guest Editor
Cardio-Thoracic-Vascular Department, University Hospital San Giovanni di Dio e Ruggi d’Aragona, 84125 Salerno, Italy
Interests: cardiomyopathies; myocardial and pericardial disease; multimodality imaging

Special Issue Information

Dear Colleagues,

In recent decades, the nosography of cardiomyopathies has changed rapidly to support physicians in increasingly fine-tuned diagnoses and more targeted therapy. Cardiomyopathies are a public health problem since about 50% of patients who die suddenly in childhood or adolescence, or undergo cardiac transplantation, belong to the wide spectrum of this condition. Novel cardiomyopathies have been discovered and acknowledged by World Health Organization classification. New etiologies and pathophysiological mechanisms have also been described.

Cardiomyopathies are diagnosed with increasing accuracy thanks to multimodality imaging and genetics tests. The advances in diagnosis made possible to move toward tailored and often personalized therapies. 

The goal of this Special Issue is to update the clinicians by providing a comprehensive collection of review articles, original researches, case reports and editorials. The aim is to share the latest knowledge regarding pathophysiology, diagnosis and treatment of cardiomyopathies, and present innovations that have the potential to improve the clinical outcome of this heterogeneous patients’ population.

Dr. Angelo Silverio
Dr. Michele Bellino
Dr. Rodolfo Citro
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

  • cardiomyopathies
  • heart failure
  • genetics
  • sudden death
  • echocardiography
  • pharmacotherapy
  • heart transplantation

Published Papers (4 papers)

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Research

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11 pages, 713 KiB  
Article
Clinical Application of the HCM-AF Risk Score in the Prediction of Clinical Outcomes of Polish Patients with Hypertrophic Cardiomyopathy
by Maria Stec, Agata Suleja, Daniel Gondko, Wiktoria Kuczmik, Jakub Roman, Dominika Dziadosz, Krzysztof Szydło and Katarzyna Mizia-Stec
J. Clin. Med. 2023, 12(13), 4484; https://doi.org/10.3390/jcm12134484 - 04 Jul 2023
Viewed by 939
Abstract
The recently introduced HCM-AF Risk Calculator allows the prognosis of atrial fibrillation (AF) occurrence in hypertrophic cardiomyopathy (HCM) patients. The aim of this study was to assess the clinical application of the HCM-AF Risk Score in the prediction of the clinical outcomes of [...] Read more.
The recently introduced HCM-AF Risk Calculator allows the prognosis of atrial fibrillation (AF) occurrence in hypertrophic cardiomyopathy (HCM) patients. The aim of this study was to assess the clinical application of the HCM-AF Risk Score in the prediction of the clinical outcomes of Polish patients. The study included 92 patients (50.0% female, median age 55 years), with a baseline sinus rhythm diagnosed between 2013 and 2018. The analysis involved the incidence of clinical characteristics and outcomes, total mortality, rehospitalisation, and the course of heart failure (HF). According to the HCM-AF Risk Score, the HCM population was stratified into three subgroups, with a low (13/14.2%), intermediate (30/32.6%), and high risk of AF (49/53.2%). Subgroups differed significantly: the high-risk subgroup was older, had a higher body mass index (BMI), and more advanced signs of left ventricular (LV) hypertrophy and left atrium (LA) dilatation. The registered AF incidence was 31.5% and 43.5% in the 2- and 5-year follow-ups, and it was significantly higher than in the HCM-AF Risk Score population, which had 4.6% in the 2-year follow-up, and 10.7% in the 5-year follow-up. In the whole population, the AF incidence in both the 2- and 5-year follow-ups revealed a strong correlation with the HCM-AF Risk Score (r = 0.442, p < 0.001; r = 0.346, p < 0.001, respectively). The clinical outcomes differed among the subgroups: the total mortality was 15.4% vs. 20.0% vs. 42.9% (p < 0.05); rehospitalisation was 23.1% vs. 53.3% vs. 71.4% (p < 0.05). The highest HF progression was in the high-risk subgroup (36.7%). Regardless of the high results of the HCM-Risk Score in Polish patients, the score underestimates the real-life high level of AF incidence. The HCM-AF Risk Score seems to be useful in the prediction of the general clinical outcomes in HCM patients. Full article
(This article belongs to the Special Issue Cardiomyopathies: State of the Art Knowledge)
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Review

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18 pages, 978 KiB  
Review
Recommendations for the Management of Cardiomyopathy Mutation Carriers: Evidence, Doubts, and Intentions
by José F. Couto and Elisabete Martins
J. Clin. Med. 2023, 12(14), 4706; https://doi.org/10.3390/jcm12144706 - 15 Jul 2023
Cited by 1 | Viewed by 1049
Abstract
Cardiomyopathies may be hereditary and associated with a familial predilection. Morbidity and mortality can be caused by heart failure, sudden death, or arrhythmias. Sometimes these events are the first manifestations of cardiovascular disease. Hypertrophic cardiomyopathy and arrhythmogenic cardiomyopathy are perhaps most thoroughly studied [...] Read more.
Cardiomyopathies may be hereditary and associated with a familial predilection. Morbidity and mortality can be caused by heart failure, sudden death, or arrhythmias. Sometimes these events are the first manifestations of cardiovascular disease. Hypertrophic cardiomyopathy and arrhythmogenic cardiomyopathy are perhaps most thoroughly studied in that context. Dilated cardiomyopathy, although most frequently of secondary etiology, has a significant familial cluster. Noncompaction of the left ventricle can sometimes be seen in healthy individuals and, in other instances, is associated with severe LV dysfunction. Genetic testing is of utmost importance, since it might allow for the identification of individuals carrying mutations predisposing them to these diseases. In addition, certain variants may benefit from tailored therapeutic regimens, and thus searching for a causal mutation can impact clinical practice and is recommended for all patients with HCM or ACM. Patients with DCM and positive family history should be included as well. Regular follow-ups are advised, even in those with negative phenotypes, because these disorders are often age dependent. During pregnancy and in the case of athletes, special consideration should be made as well. We intend to summarize the most current evidence regarding their management. Full article
(This article belongs to the Special Issue Cardiomyopathies: State of the Art Knowledge)
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12 pages, 4616 KiB  
Review
Arrhythmic Manifestations of Cardiac Amyloidosis: Challenges in Risk Stratification and Clinical Management
by Natallia Laptseva, Valentina A. Rossi, Isabella Sudano, Rahel Schwotzer, Frank Ruschitzka, Andreas J. Flammer and Firat Duru
J. Clin. Med. 2023, 12(7), 2581; https://doi.org/10.3390/jcm12072581 - 29 Mar 2023
Cited by 6 | Viewed by 1722
Abstract
Amyloidosis is a systemic disease characterized by extracellular deposits of insoluble amyloid in various tissues and organs. Cardiac amyloidosis is a frequent feature of the disease, causing a progressive, restrictive type of cardiomyopathy, and is associated with adverse clinical outcomes and increased mortality. [...] Read more.
Amyloidosis is a systemic disease characterized by extracellular deposits of insoluble amyloid in various tissues and organs. Cardiac amyloidosis is a frequent feature of the disease, causing a progressive, restrictive type of cardiomyopathy, and is associated with adverse clinical outcomes and increased mortality. The typical clinical presentation in patients with cardiac amyloidosis is heart failure (HF) with preserved ejection fraction. Most patients present with typical symptoms and signs of HF, such as exertional dyspnea, pretibial edema, pleural effusions and angina pectoris due to microcirculatory dysfunction. However, patients may also frequently encounter various arrhythmias, such as atrioventricular nodal block, atrial fibrillation and ventricular tachyarrhythmias. The management of arrhythmias in cardiac amyloidosis patients with drugs and devices is often a clinical challenge. Moreover, predictors of life-threatening arrhythmic events are not well defined. This review intends to give a deepened insight into the arrhythmic features of cardiac amyloidosis by discussing the pathogenesis of these arrhythmias, addressing the challenges in risk stratification and strategies for management in these patients. Full article
(This article belongs to the Special Issue Cardiomyopathies: State of the Art Knowledge)
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Other

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7 pages, 2779 KiB  
Case Report
A Novel Heterozygous Desmoplakin Variant Causes Cardiocutaneous Syndrome with Arrhythmogenic Cardiomyopathy and Palmoplantar Keratosis
by Tolga Çimen, Argelia Medeiros-Domingo, Antonios Kolios, Deniz Akdiş, Shehab Anwer, Felix C. Tanner, Corinna Brunckhorst, Firat Duru and Ardan M. Saguner
J. Clin. Med. 2023, 12(3), 913; https://doi.org/10.3390/jcm12030913 - 24 Jan 2023
Cited by 1 | Viewed by 1254
Abstract
Cardiocutaneous syndrome (CCS) is often caused by genetic variants in desmoplakin (DSP) in the presence of thick calluses on the hands and soles of the feet (palmoplantar keratoderma) in combination with arrhythmogenic cardiomyopathy. In this case report, we describe a 58-year-old [...] Read more.
Cardiocutaneous syndrome (CCS) is often caused by genetic variants in desmoplakin (DSP) in the presence of thick calluses on the hands and soles of the feet (palmoplantar keratoderma) in combination with arrhythmogenic cardiomyopathy. In this case report, we describe a 58-year-old man presenting with a history of cardiomyopathy with recurrent sustained ventricular tachycardia and palmoplantar keratosis. The cardiological evaluation showed biventricular cardiomyopathy, and repeated genetic testing identified a novel DSP variant. Repeated genetic testingis clinically meaningful in patients with a high probability of a specific inherited cardiac disease, such as CCS, particularly if molecular screening has been performed in the pre-NGS era with an incomplete NGS panel or outdated technology as presented in this case report. Full article
(This article belongs to the Special Issue Cardiomyopathies: State of the Art Knowledge)
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