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Advances in the Diagnosis and Management of Dilated Cardiomyopathy
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Advances in the Diagnosis and Management of Dilated Cardiomyopathy

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

Deadline for manuscript submissions: closed (20 February 2024) | Viewed by 4032

Special Issue Editor

Dr. Job Verdonschot

E-Mail Website
Guest Editor
Department of Clinical Genetics, Maastricht Universitair Medisch Centrum, Maastricht, The Netherlands
Interests: genetics; dilated cardiomyopathy; genetic testing; family members; risk prediction; machine learning; multi-omics; personalized medicine

Special Issue Information

Dear Colleagues, 

Dilated cardiomyopathy (DCM) is a cardiac phenotype resulting from genetic and environmental triggers. Routine diagnostic aims to characterize cardiac function, morphology, and different etiologies of DCM. For example, genetic testing has become a first-tier diagnostic test, and the advances in genomics resulted in an improved understanding of the genetic susceptibility of DCM. Artificial intelligence (AI) and machine learning (ML) approaches to data from routine diagnostics, such as electro- and echocardiography, showed the potential of new analytical methodologies to detect the phenotype in an earlier stage. The question remains whether an earlier diagnosis will lead to better survival and whether treatment should be started at such an early stage when there is no clear phenotype yet. In addition to standard heart failure medication, there are no individualized treatment options based on the etiology of DCM. Transcriptomic, metabolomic and proteomic datasets are emerging from DCM patients besides the genomic analysis. AI and ML approaches to these large –omic datasets will help to uncover the driving pathophysiology behind DCM and have the potential to detect novel treatment targets. An integrated approach of classic and novel diagnostics will be necessary to stratify patients for the right therapy.

This Special Issue aims to shed light on recent advances in early recognition and diagnosis of DCM and the road toward individualized management for DCM patients. In addition, there will be a special focus on the diagnosis and management of family members of DCM patients who are at risk of developing the disease.

Dr. Job Verdonschot
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. 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

  • dilated cardiomyopathy
  • genetics
  • machine learning
  • family members
  • diagnostics
  • risk stratification
  • genomics
  • patient management

Published Papers (3 papers)

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Research

15 pages, 2260 KiB  
Article
Natural History of Dilated Cardiomyopathy Due to c.77T>C (p.Val26Ala) in Emerin Protein
by Néstor Báez-Ferrer, Felícitas Díaz-Flores-Estévez, Antonia Pérez-Cejas, Pablo Avanzas, Rebeca Lorca, Pedro Abreu-González and Alberto Domínguez-Rodríguez
J. Clin. Med. 2024, 13(3), 660; https://doi.org/10.3390/jcm13030660 - 23 Jan 2024
Viewed by 927
Abstract
(1) Introduction: Dilated cardiomyopathy (DCM) mainly affects young individuals and is the main indication of heart transplantation. The variant c.77T>C (p.Val26Ala) of the gene coding for emerin (EMD) in chromosome Xq28 has been catalogued as a pathogenic variant for the development of [...] Read more.
(1) Introduction: Dilated cardiomyopathy (DCM) mainly affects young individuals and is the main indication of heart transplantation. The variant c.77T>C (p.Val26Ala) of the gene coding for emerin (EMD) in chromosome Xq28 has been catalogued as a pathogenic variant for the development of DCM, exhibiting an X-linked inheritance pattern. (2) Methods: A retrospective study was conducted covering the period 2015–2023 in patients with DCM of genetic origin. The primary endpoint was patient age at onset of the first composite major cardiac event, in the form of a first episode of heart failure, malignant ventricular arrhythmia, or end-stage heart failure, according to the presence of truncating variant in titin gene (TTNtv) versus the p.Val26Ala mutation in the EMD protein. (3) Results: A total of 31 and 22 patients were included in the EMD group and TTNtv group, respectively. The primary endpoint was significantly higher in the EMD group, with a hazard ratio of 4.16 (95% confidence interval: 1.83–9.46; p = 0.001). At 55 years of age, all the patients in the EMD group had already presented heart failure, nine presented malignant ventricular arrhythmia (29%), and 13 required heart transplantation (42%). (4) Conclusions: DCM secondary to the c.77T>C (p.Val26Ala) mutation in the EMD gene is associated to an increased risk of major cardiac events compared to patients with DCM due to TTNtv, with a large proportion of transplanted patients in the fifth decade of life. Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Management of Dilated Cardiomyopathy)
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11 pages, 3196 KiB  
Article
Cardiac Inflammation in Adult-Onset Genetic Dilated Cardiomyopathy
by Maurits A. Sikking, Sophie L. V. M. Stroeks, Michiel T. H. M. Henkens, Max F. G. H. M. Venner, Xiaofei Li, Stephane R. B. Heymans, Mark R. Hazebroek and Job A. J. Verdonschot
J. Clin. Med. 2023, 12(12), 3937; https://doi.org/10.3390/jcm12123937 - 9 Jun 2023
Viewed by 1363
Abstract
Dilated cardiomyopathy (DCM) has a genetic cause in up to 40% of cases, with differences in disease penetrance and clinical presentation, due to different exogeneous triggers and implicated genes. Cardiac inflammation can be the consequence of an exogeneous trigger, subsequently unveiling a phenotype. [...] Read more.
Dilated cardiomyopathy (DCM) has a genetic cause in up to 40% of cases, with differences in disease penetrance and clinical presentation, due to different exogeneous triggers and implicated genes. Cardiac inflammation can be the consequence of an exogeneous trigger, subsequently unveiling a phenotype. The study aimed to determine cardiac inflammation in a cohort of genetic DCM patients and investigate whether it associated with a younger disease onset. The study included 113 DCM patients with a genetic etiology, of which 17 had cardiac inflammation as diagnosed in an endomyocardial biopsy. They had a significant increased cardiac infiltration of white blood, cytotoxic T, and T-helper cells (p < 0.05). Disease expression was at a younger age in those patients with cardiac inflammation, compared to those without inflammation (p = 0.015; 50 years (interquartile range (IQR) 42–53) versus 53 years (IQR 46–61). However, cardiac inflammation was not associated with a higher incidence of all-cause mortality, heart failure hospitalization, or life-threatening arrhythmias (hazard ratio 0.85 [0.35–2.07], p = 0.74). Cardiac inflammation is associated with an earlier disease onset in patients with genetic DCM. This might indicate that myocarditis is an exogeneous trigger unveiling a phenotype at a younger age in patients with a genetic susceptibility, or that cardiac inflammation resembles a ‘hot-phase’ of early-onset disease. Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Management of Dilated Cardiomyopathy)
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12 pages, 650 KiB  
Article
Relationships of Whole-Heart Myocardial Mechanics and Cardiac Morphometrics by Transthoracic Echocardiography with Main Prognostic Factors of Heart Failure in Non-Ischemic Dilated Cardiomyopathy
by Karolina Mėlinytė-Ankudavičė, Eglė Ereminienė, Vaida Mizarienė, Gintarė Šakalytė, Jurgita Plisienė, Vytautas Ankudavičius, Rūta Dirsienė, Remigijus Žaliūnas and Renaldas Jurkevičius
J. Clin. Med. 2023, 12(6), 2272; https://doi.org/10.3390/jcm12062272 - 15 Mar 2023
Viewed by 1220
Abstract
Background: there are many prognostic factors of heart failure (HF) based on their evaluation from imaging, to laboratory tests. In clinical practice, it is crucial to use widely available, cheap, and easy-to-use prognostic factors, such as left ventricular ejection fraction (LVEF), New York [...] Read more.
Background: there are many prognostic factors of heart failure (HF) based on their evaluation from imaging, to laboratory tests. In clinical practice, it is crucial to use widely available, cheap, and easy-to-use prognostic factors, such as left ventricular ejection fraction (LVEF), New York Heart Association (NYHA) functional class, 6 min walk test (6MWT), B-type natriuretic peptide (BNP), etc. We sought to evaluate the relationships between whole-heart myocardial mechanics and cardiac morphometrics with the main commonly used prognostic factors of HF in patients with non-ischemic dilated cardiomyopathy (NIDCM). Methods and results: two-dimensional (2D) echocardiography for myocardial mechanics (global longitudinal, radial, and circumferential strains of the left ventricle; right ventricular longitudinal strain; strain values of reservoir, conduit, and contraction function of both atria) and cardiac morphometric (diameters and volumes of both atria and ventricles) parameters were performed, and the HF main traditional prognostic factors were identified. We assessed 109 patients (68.8% male; 49.7 ± 10.5 years) with newly diagnosed NIDCM. Myocardial mechanics and morphometrics were weakly correlated with the patient’s age, gender, and smoking (R = 0.2, p < 0.05). Stronger relationships were observed with NYHA class, 6MWT, and BNP (the strongest correlations were with LVEF: R = −0.499, R 0.462, R = −0.461, p < 0.001, respectively). There were moderately strong correlations with LVEF and other whole-heart myocardial mechanics or morphometrics. Moreover, LVEF with global regurgitation volume (GRV) and right ventricle free wall longitudinal strain (RVFWLS) were the most usually detected parameters in multivariate analysis to be associated with changes in HF prognostic factors. Conclusions: in NIDCM patients, the main prognostic factors of HF are correlated with whole-heart myocardial mechanics and morphometrics. However, LVEF, GRV, and RVFWLS are the most usually found 2D echocardiographic factors associated with changes in HF prognostic factors. Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Management of Dilated Cardiomyopathy)
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