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Advances in the Diagnosis and Management of Genetic and Non-genetic Cardiomyopathies

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

Deadline for manuscript submissions: closed (29 March 2024) | Viewed by 7650

Special Issue Editors

Dr. Emanuele Monda

E-Mail Website
Guest Editor
1. Inherited and Rare Cardiovascular Diseases Unit, Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy
2. Institute of Cardiovascular Science, University College London, London, UK
Interests: myocardial diseases; cardiomyopathies; genetic cardiovascular disease; rare cardiovascular diseases; congenital heart diseases
Special Issues, Collections and Topics in MDPI journals
Dr. Giuseppe Limongelli

E-Mail Website
Guest Editor
Department of Translational Medical Sciences, Inherited and Rare Heart Disease, Vanvitelli Cardiology, University of Campania Luigi Vanvitelli, 80131 Naples, Italy
Interests: cardiomyopathies; sudden death; rare disease; heart failure; genetic cardiovascular diseases
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Cardiomyopathies are defined as myocardial disorders in which the heart muscle is structurally and functionally abnormal in the absence of coronary artery disease, hypertension, valvular disease, and congenital heart disease sufficient to cause the observed myocardial abnormality. Cardiomyopathies are classified as genetic and non-genetic according to the underlying etiology. In recent years, several advances in the diagnosis, management, and risk stratification for adverse events have been observed.

This Special Issue aims to identify the gaps in the diagnosis and management of cardiomyopathies based on a combination of original research and review papers.

Potential topics include:

  • The epidemiology of cardiomyopathies;
  • The role of genetics in diagnosis, risk stratification, and management;
  • Diagnostic approaches, including multimodality imaging and novel techniques;
  • Medical and surgical treatments;
  • Specific aetiologies (e.g., Fabry disease, cardiac amyloidosis, cardiac sarcoidosis);
  • Pediatric cardiomyopathies.

Dr. Emanuele Monda
Dr. Giuseppe Limongelli
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

  • myocardial diseases
  • cardiomyopathies
  • genetic cardiovascular disease
  • rare cardiovascular diseases
  • congenital heart diseases

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Further information on MDPI's Special Issue polices can be found here.

Published Papers (5 papers)

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Research

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13 pages, 1642 KiB  
Article
Patterns of Left Ventricular Remodelling in Children and Young Patients with Hypertrophic Cardiomyopathy
by Emanuele Monda, Martina Caiazza, Chiara Cirillo, Marta Rubino, Federica Verrillo, Giuseppe Palmiero, Gaetano Diana, Annapaola Cirillo, Adelaide Fusco, Natale Guarnaccia, Pietro Buono, Giulia Frisso, Paolo Calabrò, Maria Giovanna Russo and Giuseppe Limongelli
J. Clin. Med. 2024, 13(13), 3937; https://doi.org/10.3390/jcm13133937 - 4 Jul 2024
Viewed by 698
Abstract
Introduction: The aim of this study was to evaluate the age at onset, clinical course, and patterns of left ventricular (LV) remodelling during follow-up in children and young patients with hypertrophic cardiomyopathy (HCM). Methods: We included consecutive patients with sarcomeric or [...] Read more.
Introduction: The aim of this study was to evaluate the age at onset, clinical course, and patterns of left ventricular (LV) remodelling during follow-up in children and young patients with hypertrophic cardiomyopathy (HCM). Methods: We included consecutive patients with sarcomeric or non-syndromic HCM below 18 years old. Three pre-specified patterns of LV remodelling were assessed: maximal LV wall thickness (MLVWT) thickening; MLVWT thinning with preserved LV ejection fraction; and MLVWT thinning with progressive reduction in LV ejection fraction (hypokinetic end-stage evolution). Results: Fifty-three patients with sarcomeric/non-syndromic HCM (mean age 9.4 ± 5.5 years, 68% male) fulfilled the inclusion criteria. In total, 32 patients (60%) showed LV remodelling: 3 patients (6%) exhibited MLVWT thinning; 16 patients (30%) showed MLVWT thickening; and 13 patients (24%) progressed to hypokinetic end-stage HCM. Twenty-one patients (40%) had no LV remodelling during follow-up. In multivariate analysis, MLVWT was a predictor of the hypokinetic end-stage remodelling pattern during follow-up (OR 1.17 [95%CI 1.01–1.36] per 1 mm increase, p-value 0.043), regardless of sarcomeric variants and New York Heart Association class. Two patients with sarcomeric HCM, showing a pattern of MLVWT regression during childhood, experienced progression during adolescence. Conclusions: Different patterns of LV remodelling were observed in a cohort of children with sarcomeric/non-syndromic HCM. Interestingly, a pattern of progressive MLVWT thinning during childhood, with new progression of MLVWT during adolescence, was noted. A better understanding of the remodelling mechanisms in children with sarcomeric HCM may be relevant to defining the timing and possible efficacy of new targeted therapies in the preclinical stage of the disease. Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Management of Genetic and Non-genetic Cardiomyopathies)
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14 pages, 565 KiB  
Article
CMR Predictors of Favorable Outcome in Myocarditis: A Single-Center Experience
by Anna Baritussio, Chun-Yan Cheng, Giuseppe Simeti, Honoria Ocagli, Giulia Lorenzoni, Andrea Silvio Giordani, Cristina Basso, Stefania Rizzo, Monica De Gaspari, Raffaella Motta, Giorgio De Conti, Martina Perazzolo Marra, Giuseppe Tarantini, Sabino Iliceto, Dario Gregori, Renzo Marcolongo and Alida Linda Patrizia Caforio
J. Clin. Med. 2024, 13(5), 1229; https://doi.org/10.3390/jcm13051229 - 21 Feb 2024
Cited by 1 | Viewed by 1166
Abstract
Background: Cardiovascular magnetic resonance (CMR) has emerged as the most accurate, non-invasive method to support the diagnosis of clinically suspected myocarditis and as a risk-stratification tool in patients with cardiomyopathies. We aim to assess the diagnostic and prognostic role of CMR at [...] Read more.
Background: Cardiovascular magnetic resonance (CMR) has emerged as the most accurate, non-invasive method to support the diagnosis of clinically suspected myocarditis and as a risk-stratification tool in patients with cardiomyopathies. We aim to assess the diagnostic and prognostic role of CMR at diagnosis in patients with myocarditis. Methods: We enrolled consecutive single-center patients with 2013 ESC consensus-based endomyocardial biopsy (EMB)-proven or clinically suspected myocarditis undergoing CMR at diagnosis. The pre-specified outcome was defined as NYHA class > I and echocardiographic left ventricular ejection fraction (LVEF) < 50% at follow-up. Results: We included 207 patients (74% male, median age 36 years; 25% EMB-proven). CMR showed the highest sensitivity in myocarditis with infarct-like presentation. Patients with EMB-proven myocarditis were more likely to have diffuse LGE and right ventricular LGE (p < 0.001), which was also more common among patients with arrhythmic presentation (p = 0.001). The outcome was met in 17 patients at any follow-up time point, more commonly in those with larger biventricular volumes (p < 0.001), CMR-based diagnosis of dilated cardiomyopathy (p < 0.001), and ischemic LGE (p = 0.005). Higher biventricular systolic function (p < 0.001) and greater LGE extent (p = 0.033) at diagnosis had a protective effect. Conclusions: In our single-center cohort of rigorously defined myocarditis patients, higher biventricular systolic function and greater LGE extent on CMR at diagnosis identified patients with better functional class and higher left ventricular ejection fraction at follow-up. Conversely, larger biventricular volumes, CMR-based DCM features, and the presence of an ischemic LGE pattern at diagnosis were predictors of worse functional class and LV systolic dysfunction at follow-up. Larger prospective studies are warranted to extend our findings to multi-center cohorts. Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Management of Genetic and Non-genetic Cardiomyopathies)
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Review

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19 pages, 1771 KiB  
Review
The Role of Magnetic Resonance Imaging in Cardiomyopathies in the Light of New Guidelines: A Focus on Tissue Mapping
by Cinzia Forleo, Maria Cristina Carella, Paolo Basile, Donato Mandunzio, Giulia Greco, Gianluigi Napoli, Eugenio Carulli, Marco Maria Dicorato, Ilaria Dentamaro, Vincenzo Ezio Santobuono, Riccardo Memeo, Michele Davide Latorre, Andrea Baggiano, Saima Mushtaq, Marco Matteo Ciccone, Gianluca Pontone and Andrea Igoren Guaricci
J. Clin. Med. 2024, 13(9), 2621; https://doi.org/10.3390/jcm13092621 - 29 Apr 2024
Viewed by 1471
Abstract
Cardiomyopathies (CMPs) are a group of myocardial disorders that are characterized by structural and functional abnormalities of the heart muscle. These abnormalities occur in the absence of coronary artery disease (CAD), hypertension, valvular disease, and congenital heart disease. CMPs are an increasingly important [...] Read more.
Cardiomyopathies (CMPs) are a group of myocardial disorders that are characterized by structural and functional abnormalities of the heart muscle. These abnormalities occur in the absence of coronary artery disease (CAD), hypertension, valvular disease, and congenital heart disease. CMPs are an increasingly important topic in the field of cardiovascular diseases due to the complexity of their diagnosis and management. In 2023, the ESC guidelines on cardiomyopathies were first published, marking significant progress in the field. The growth of techniques such as cardiac magnetic resonance imaging (CMR) and genetics has been fueled by the development of multimodal imaging approaches. For the diagnosis of CMPs, a multimodal imaging approach, including CMR, is recommended. CMR has become the standard for non-invasive analysis of cardiac morphology and myocardial function. This document provides an overview of the role of CMR in CMPs, with a focus on tissue mapping. CMR enables the characterization of myocardial tissues and the assessment of cardiac functions. CMR sequences and techniques, such as late gadolinium enhancement (LGE) and parametric mapping, provide detailed information on tissue composition, fibrosis, edema, and myocardial perfusion. These techniques offer valuable insights for early diagnosis, prognostic evaluation, and therapeutic guidance of CMPs. The use of quantitative CMR markers enables personalized treatment plans, improving overall patient outcomes. This review aims to serve as a guide for the use of these new tools in clinical practice. Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Management of Genetic and Non-genetic Cardiomyopathies)
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10 pages, 1861 KiB  
Review
Brugada Syndrome: A Comprehensive Review of Fundamental and Electrophysiological New Findings
by Naoya Kataoka and Teruhiko Imamura
J. Clin. Med. 2023, 12(20), 6590; https://doi.org/10.3390/jcm12206590 - 18 Oct 2023
Cited by 4 | Viewed by 2414
Abstract
Brugada syndrome is characterized by pronounced J-ST segment elevation in the right precordial leads on surface electrocardiograms. The etiological underpinnings of these distinctive features have been the subject of extensive debate, encompassing various theories related to repolarization anomalies and conduction irregularities. Genetic investigations [...] Read more.
Brugada syndrome is characterized by pronounced J-ST segment elevation in the right precordial leads on surface electrocardiograms. The etiological underpinnings of these distinctive features have been the subject of extensive debate, encompassing various theories related to repolarization anomalies and conduction irregularities. Genetic investigations have unveiled SCN5A, the gene encoding NaV1.5, a critical sodium channel, as the most frequently implicated causative gene, with mutations typically manifesting as loss of function. Nonetheless, the detection rate of SCN5A mutations remains below 20%, underscoring the intricate genetic landscape of the syndrome. Histological analyses have divulged localized structural irregularities, primarily marked by fibrotic alterations, within the right ventricular outflow tract. Electrophysiological inquiries employing direct epicardial mapping techniques have uncovered localized conduction impediments concomitant with modifications in unipolar morphologies within the J-ST segment. Thus, the theory positing conduction abnormalities emerges as a compelling mechanism accounting for J-ST segment elevation. However, the precise mechanisms governing the onset of life-threatening tachyarrhythmias remain shrouded in uncertainty. Recent clinical case reports have proffered evidence supporting the notion that phase 2 reentry, arising from the marked heterogeneity in action potentials within the epicardial domain, may serve as the instigator of premature ventricular contractions, ultimately culminating in ventricular fibrillation. In light of these developments, it becomes increasingly evident that comprehending the mechanisms underlying the electrocardiographic manifestations and lethal arrhythmias in Brugada syndrome necessitates the consideration of a multifaceted perspective, transcending the binary discourse of repolarization versus depolarization anomalies. Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Management of Genetic and Non-genetic Cardiomyopathies)
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Other

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7 pages, 549 KiB  
Brief Report
Changes in Left Ventricular Ejection Fraction and Clinical Trajectories of Transthyretin Cardiac Amyloidosis with Systolic Dysfunction
by Joshua Saef, Trejeeve Martyn, Anusha Ray Dey, Rola Khedraki, Lauren Ives, Patrick Collier, Wael A. Jaber, Jerry D. Estep, Mazen Hanna and Wai Hong Wilson Tang
J. Clin. Med. 2023, 12(23), 7250; https://doi.org/10.3390/jcm12237250 - 23 Nov 2023
Cited by 5 | Viewed by 1316
Abstract
Background: Transthyretin cardiac amyloidosis (ATTR-CM) is classically thought of as a progressive disease with preserved systolic function. The longitudinal clinical trajectories of ATTR-CM with impaired left ventricular ejection fraction (LVEF) remain unclear. Methods: This is a single-center retrospective cohort study of consecutive patients [...] Read more.
Background: Transthyretin cardiac amyloidosis (ATTR-CM) is classically thought of as a progressive disease with preserved systolic function. The longitudinal clinical trajectories of ATTR-CM with impaired left ventricular ejection fraction (LVEF) remain unclear. Methods: This is a single-center retrospective cohort study of consecutive patients with ATTR-CM who underwent two or more echocardiograms with baseline LVEF < 50%. Patients were stratified according to the presence of ≥5% change in LVEF. A Cox proportional hazard model examined hazard of a composite outcome of death, transplant, or LVAD insertion over the two years following diagnosis. Results: In our study cohort of 179 patients, 62 patients (34.6%) experienced an increase in LVEF while 33 (18.4%) experienced a decrease in LVEF. After adjusting for covariates, patients with a decrease in EF experienced increased hazard of death (HR 2.15, 95% CI 1.05–4.40, p = 0.038) compared to those with stable or an increase in LVEF. Changes in LVEF corresponded with significant differences in NT proBNP trajectories, but initial biomarker levels or clinical staging were not predictive of LVEF trajectory. Conclusions: in ATTR-CM patients with impaired LVEF, over a third demonstrated improved LVEF over time, while those with a decrease in LVEF had worse long-term outcomes. Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Management of Genetic and Non-genetic Cardiomyopathies)
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