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Biomedicines
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Cardiomyopathies：From Molecular Basis to Therapy
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Cardiomyopathies：From Molecular Basis to Therapy

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular and Translational Medicine".

Deadline for manuscript submissions: closed (15 January 2023) | Viewed by 8072

Special Issue Editor

Dr. Giorgia Beffagna

E-Mail Website
Guest Editor
Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padova, 35131 Padova, Italy
Interests: genetic disorders; neuromuscular disorders; cardiomyopathies; arrhythmogenic cardiomyopathy; cardiac IPS cells; animal models; zebrafish; signaling pathways; cardiac imaging; mutation screening

Special Issue Information

Dear Colleagues,

In recent years, the AHA have defined cardiomyopathies as “a group of heterogeneous disorders of the myocardium due to a variety of causes that frequently are of genetic origin”. The diagnosis of cardiomyopathies has long been based on the morphology and function of the heart, studied by non-invasive diagnostic tools. Recent advances in cardiac imaging, such as positron emission tomography, computed tomography, and magnetic resonance imaging (MRI), have achieved unprecedented improvements to our ability to diagnose cardiomyopathies, improve patient care, and advance biomedical research. The role of imaging in the early phenotyping of cardiac disease, risk assessment, and management guidance is expanding rapidly in ways previously thought not possible or realistic. Together with advances in cardiac imaging, advances in proteomics, metabolomics, microbiomics, and most of all in genetics, have broadened our understanding of the molecular and cellular deep mechanisms involved in the onset and progression of cardiomyopathies, which could potentially lead to the optimal treatment strategies for each patient. Moreover, clinical genetic testing is rapidly emerging, with the main rationale of identifying at-risk asymptomatic or disease-free relatives.

Despite extensive studies on cellular and animal models, the main approaches to the management of patients with cardiomyopathies remain unchanged. Therapeutic options mainly consist of lifestyle changes, catheter ablation, implantable cardiac defibrillator (ICD), and heart transplantation. Current pharmacological therapy is only targeted to symptoms relief, and cannot address the causes of the disease.

The purpose of this Special Issue is to review the scientific bases of non-ischemic cardiomyopathies. We will focus on progress in the current understanding of the onset and natural history of these conditions. Furthermore, we will discuss advancements in genetics and genomics, and the most recent discoveries on biomarkers and novel therapeutic targets.

Dr. Giorgia Beffagna
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 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. Biomedicines is an international peer-reviewed open access monthly 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
  • sudden cardiac death
  • cellular models
  • animal models
  • IPS cells
  • cardiomyopathies diagnosis
  • cardiac imaging
  • molecular biopsy
  • signaling pathways
  • cardiomyopathies therapy

Published Papers (4 papers)

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Research

19 pages, 2661 KiB  
Article
Myosins and MyomiR Network in Patients with Obstructive Hypertrophic Cardiomyopathy
by Chiara Foglieni, Maria Lombardi, Davide Lazzeroni, Riccardo Zerboni, Edoardo Lazzarini, Gloria Bertoli, Annalinda Pisano, Francesca Girolami, Annapaola Andolfo, Cinzia Magagnotti, Giovanni Peretto, Carmem L. Sartorio, Iacopo Olivotto, Giovanni La Canna, Ottavio Alfieri, Ornella E. Rimoldi, Lucio Barile, Giulia d’Amati and Paolo G. Camici
Biomedicines 2022, 10(9), 2180; https://doi.org/10.3390/biomedicines10092180 - 03 Sep 2022
Cited by 5 | Viewed by 1854
Abstract
Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiomyopathy. The molecular mechanisms determining HCM phenotypes are incompletely understood. Myocardial biopsies were obtained from a group of patients with obstructive HCM (n = 23) selected for surgical myectomy and from 9 unused donor hearts [...] Read more.
Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiomyopathy. The molecular mechanisms determining HCM phenotypes are incompletely understood. Myocardial biopsies were obtained from a group of patients with obstructive HCM (n = 23) selected for surgical myectomy and from 9 unused donor hearts (controls). A subset of tissue-abundant myectomy samples from HCM (n = 10) and controls (n = 6) was submitted to laser-capture microdissection to isolate cardiomyocytes. We investigated the relationship among clinical phenotype, cardiac myosin proteins (MyHC6, MyHC7, and MyHC7b) measured by optimized label-free mass spectrometry, the relative genes (MYH7, MYH7B and MYLC2), and the MyomiR network (myosin-encoded microRNA (miRs) and long-noncoding RNAs (Mhrt)) measured using RNA sequencing and RT-qPCR. MyHC6 was lower in HCM vs. controls, whilst MyHC7, MyHC7b, and MyLC2 were comparable. MYH7, MYH7B, and MYLC2 were higher in HCM whilst MYH6, miR-208a, miR-208b, miR-499 were comparable in HCM and controls. These results are compatible with defective transcription by active genes in HCM. Mhrt and two miR-499-target genes, SOX6 and PTBP3, were upregulated in HCM. The presence of HCM-associated mutations correlated with PTBP3 in myectomies and with SOX6 in cardiomyocytes. Additionally, iPSC-derived cardiomyocytes, transiently transfected with either miR-208a or miR-499, demonstrated a time-dependent relationship between MyomiRs and myosin genes. The transfection end-stage pattern was at least in part similar to findings in HCM myectomies. These data support uncoupling between myosin protein/genes and a modulatory role for the myosin/MyomiR network in the HCM myocardium, possibly contributing to phenotypic diversity and providing putative therapeutic targets. Full article
(This article belongs to the Special Issue Cardiomyopathies：From Molecular Basis to Therapy)
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14 pages, 2432 KiB  
Article
Transcriptional Active Parvovirus B19 Infection Predicts Adverse Long-Term Outcome in Patients with Non-Ischemic Cardiomyopathy
by Felicitas Escher, Ganna Aleshcheva, Heiko Pietsch, Christian Baumeier, Ulrich M. Gross, Benedikt Norbert Schrage, Dirk Westermann, Claus-Thomas Bock and Heinz-Peter Schultheiss
Biomedicines 2021, 9(12), 1898; https://doi.org/10.3390/biomedicines9121898 - 14 Dec 2021
Cited by 7 | Viewed by 2121
Abstract
Parvovirus B19 (B19V) is the predominant cardiotropic virus currently found in endomyocardial biopsies (EMBs). However, direct evidence showing a causal relationship between B19V and progression of inflammatory cardiomyopathy are still missing. The aim of this study was to analyze the impact of transcriptionally [...] Read more.
Parvovirus B19 (B19V) is the predominant cardiotropic virus currently found in endomyocardial biopsies (EMBs). However, direct evidence showing a causal relationship between B19V and progression of inflammatory cardiomyopathy are still missing. The aim of this study was to analyze the impact of transcriptionally active cardiotropic B19V infection determined by viral RNA expression upon long-term outcomes in a large cohort of adult patients with non-ischemic cardiomyopathy in a retrospective analysis from a prospective observational cohort. In total, the analyzed study group comprised 871 consecutive B19V-positive patients (mean age 50.0 ± 15.0 years) with non-ischemic cardiomyopathy who underwent EMB. B19V-positivity was ascertained by routine diagnosis of viral genomes in EMBs. Molecular analysis of EMB revealed positive B19V transcriptional activity in n = 165 patients (18.9%). Primary endpoint was all-cause mortality in the overall cohort. The patients were followed up to 60 months. On the Cox regression analysis, B19V transcriptional activity was predictive of a worse prognosis compared to those without actively replicating B19V (p = 0.01). Moreover, multivariable analysis revealed transcriptional active B19V combined with inflammation [hazard ratio 4.013, 95% confidence interval 1.515–10.629 (p = 0.005)] as the strongest predictor of impaired survival even after adjustment for age and baseline LVEF (p = 0.005) and independently of viral load. The study demonstrates for the first time the pathogenic clinical importance of B19V with transcriptional activity in a large cohort of patients. Transcriptionally active B19V infection is an unfavourable prognostic trigger of adverse outcome. Our findings are of high clinical relevance, indicating that advanced diagnostic differentiation of B19V positive patients is of high prognostic importance. Full article
(This article belongs to the Special Issue Cardiomyopathies：From Molecular Basis to Therapy)
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16 pages, 1849 KiB  
Article
Left Atrial Geometry and Phasic Function Determined by Cardiac Magnetic Resonance Are Independent Predictors for Outcome in Non-Ischaemic Dilated Cardiomyopathy
by Bianca Olivia Cojan-Minzat, Alexandru Zlibut, Ioana Danuta Muresan, Rares-Ilie Orzan, Carmen Cionca, Dalma Horvat, Liliana David, Alexandru Ciprian Visan, Mira Florea and Lucia Agoston-Coldea
Biomedicines 2021, 9(11), 1653; https://doi.org/10.3390/biomedicines9111653 - 10 Nov 2021
Cited by 2 | Viewed by 1607
Abstract
Left atrial (LA) geometry and phasic functions are frequently impaired in non-ischaemic dilated cardiomyopathy (NIDCM). Cardiac magnetic resonance (CMR) can accurately measure LA function and geometry parameters. We sought to investigate their prognostic role in patients with NIDCM. We prospectively examined 212 patients [...] Read more.
Left atrial (LA) geometry and phasic functions are frequently impaired in non-ischaemic dilated cardiomyopathy (NIDCM). Cardiac magnetic resonance (CMR) can accurately measure LA function and geometry parameters. We sought to investigate their prognostic role in patients with NIDCM. We prospectively examined 212 patients with NIDCM (49 ± 14.2-year-old; 73.5% males) and 106 healthy controls. LA volumes, phasic functions, geometry, and fibrosis were determined using CMR. A composite outcome (cardiac death, ventricular tachyarrhythmias, heart failure hospitalization) was ascertained over a median of 26 months. LA phasic functions, sphericity index (LASI) and late gadolinium enhancement (LA-LGE) were considerably impaired in the diseased group (p < 0.001) and significantly correlated with impaired LV function parameters (p < 0.0001). After multivariate analysis, LA volumes, LASI, LA total strain (LA-εt) and LA-LGE were associated with increased risk of composite outcome (p < 0.001). Kaplan–Meier analysis showed significantly higher risk of composite endpoint for LA volumes (all p < 0.01), LASI > 0.725 (p < 0.003), and LA-εt < 30% (p < 0.0001). Stepwise Cox proportional-hazards models demonstrated a considerable incremental predictive value which resulted by adding LASI to LA-εt (Chi-square = 10.2, p < 0.001), and afterwards LA-LGE (Chi-Square = 15.8; p < 0.0001). NIDCM patients with defective LA volumes, LASI, LA-LGE and LA-εt had a higher risk for an outcome. LA-εt, LASI and LA-LGE provided independent incremental predictive value for outcome. Full article
(This article belongs to the Special Issue Cardiomyopathies：From Molecular Basis to Therapy)
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10 pages, 252 KiB  
Article
Comparable Efficacy in Ischemic and Non-Ischemic ICD Recipients for the Primary Prevention of Sudden Cardiac Death
by Andreea Maria Ursaru, Antoniu Octavian Petris, Irina Iuliana Costache and Nicolae Dan Tesloianu
Biomedicines 2021, 9(11), 1595; https://doi.org/10.3390/biomedicines9111595 - 02 Nov 2021
Cited by 4 | Viewed by 1595
Abstract
(1) Background: In patients suffering from heart failure, the main causes of death are either hemodynamic failure, or ventricular arrhythmias. The only tool to significantly reduce arrhythmic sudden death is the implantable cardioverter defibrillator (ICD), but not all patients benefit to the same [...] Read more.
(1) Background: In patients suffering from heart failure, the main causes of death are either hemodynamic failure, or ventricular arrhythmias. The only tool to significantly reduce arrhythmic sudden death is the implantable cardioverter defibrillator (ICD), but not all patients benefit to the same extent from these devices. (2) Methods: The primary outcome of this single-center study was defined as cardiovascular death in patients with ischemic and non-ischemic heart failure who have benefited from ICD therapy. The secondary outcomes were death from any cause, sudden cardiac death, ICD-related therapies (appropriate antitachycardia pacing or shock therapy for ventricular tachycardia or fibrillation) and recurrences of ventricular tachyarrhythmias. (3) Results: A total of 403 consecutive ICD recipients—symptomatic heart failure patients with ICD for the primary prevention of sudden cardiac death—were included retrospectively: 59% ischemic cardiomyopathy (ICMP) and 41% non-ischemic cardiomyopathy (NICMP) patients. Within a median follow-up period of 36 months, the incidence of cardiovascular mortality was not significantly different in patients with NICMP and ICMP: the primary outcome had occurred in 9 patients (5.4%) in the NICMP group and in 14 patients (5.9%) in the ICMP group (hazard ratio 1; 95% confidence interval (CI) 0.45 to 2.28; p = 0.97). All-cause mortality occurred in 14 of 166 patients (8.4%) in the NICMP group and 18 of 237 patients (7.6%) in the ICMP group. Sudden cardiac death occurred in two patients (1.2%) in the NICMP group and in four patients (1.7%) in the ICMP group (hazard ratio 0.71; 95% CI, 0.13 to 3.88; p = 0.69). The rate of appropriate device therapies was comparable in both groups. (4) Conclusions: In this study, ICD implantation for primary prevention of sudden cardiac death in patients with symptomatic systolic heart failure was associated with similar rates of cardiovascular and all-cause mortality in patients with ischemic heart disease, and in patients with heart failure from other causes. NICMP and ICMP showed comparable rates of recurrent ventricular tachyarrhythmias and appropriate ICD therapies. Full article
(This article belongs to the Special Issue Cardiomyopathies：From Molecular Basis to Therapy)
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