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The Metabolic Mechanisms of Cardiomyopathy
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The Metabolic Mechanisms of 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 (15 October 2019) | Viewed by 20145

Special Issue Editors

Dr. Giuseppe Limongelli

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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
Prof. Dr. Iacopo Olivotto

E-Mail Website
Guest Editor
Department of Experimental and Clinical Medicine, University of Florence, 50121 Florence, Italy
Interests: clinical and molecular basis of cardiomyopathies; metabolic pathways involved in cardiomyopathies; innovation in pharmacological treatment and clinical trials in patients with inherited heart diseases
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear collegues,

Cardiomyopathies are a heterogeneous group of myocardial disorders in which the heart muscle is structurally and functionally abnormal in the absence of any condition that can explain the observed phenotype. Most cardiomyopathies are genetic disorders affecting the structural and functional proteins of the cardiomyocyte. They can be primary genetic disorders of the myocardium, or be part of clinical spectrum and multisystem disorders (phenocopies–genocopies) such as malformation syndromes, neuromuscular disorders, mitochondrial disease, and metabolic/infiltrative/storage disease.

The pathogenesis of cardiomyopathies is still a matter of debate. However, myocardial energetics seems to play a major  role. This is intuitive for patients with mitochondrial and metabolic cardiomyopathies, but it is more and more evident also in patients with sarcomeric gene disease. For examples, hyperdynamic ventricular contraction, with a high cellular energy expense, is the earliest and primary identified biomechanical defect in human HCM. On the other hand, complex mechanisms can be involved. Indeed, experimental data seem to support the hypothesis that titin is critical for sarcomere assembly and content and that mutations lead to an abnormal and inadequate stress response (for example during an increased haemodynamic load in pregnancy).

In the clinical setting, the clinical recognition and differential diagnosis of metabolic/mitochondrial cardiomypathies vs sarcomeric gene disease is crucial for clinical management and therapy.

In fact, the development of new pharmacological approaches targeting cardiomyopathies and other orphan/rare cardiac diseases is closer to reality. The development of targeted therapies is enabled by new insights into clinical phenotypes and molecular pathogenesis, along with the establishment of the large-scale international collaboration and engagement of the pharmaceutical industry.

The present Special Issue will cover deep pathogenesis and molecular and clinical aspects of cardiomyopathies, with specific attention to cellular energetics and metabolic mechanisms, and the development of future targeted therapies, and the specificity of predictors across several behavioral addictions. In summary, the theoretical approach of considering and treating certain daily behaviors as potentially addictive will increase clinicians’ knowledge of a yet poorly explored area and take seriously the care of patients who suffer from a lack of control over their behaviors.

Prof. Dr. Giuseppe Limongelli
Prof. Dr. Iacopo Olivotto
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

  • Pathogenesis of Cardiomyopathies
  • Energetic Mechanisms of Cardiomyopathies
  • Exercise mechanisms in Cardiomyopathies
  • Sarcomeric Cardiomyopathies
  • Mitochondrial Cardiomyopathies
  • Metabolic Cardiomyopathies
  • Storage Cardiomyopathies
  • Infiltrative Cardiomyopathies
  • Neuromuscular Cardiomyopathies
  • Toxic Cardiomyopathies
  • Diabetic Cardiomyopathies
  • Paediatric Cardiomyopathies
  • Aging and Cardiomyopathies
  • Targeted Therapies in Cardiomyopathies
  • Precision Medicine in Cardiomyopathies

Published Papers (5 papers)

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Research

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20 pages, 1064 KiB  
Article
Ghrelin Derangements in Idiopathic Dilated Cardiomyopathy: Impact of Myocardial Disease Duration and Left Ventricular Ejection Fraction
by Aneta Aleksova, Antonio Paolo Beltrami, Elisa Bevilacqua, Laura Padoan, Daniela Santon, Federico Biondi, Giulia Barbati, Elisabetta Stenner, Gianluca Gortan Cappellari, Rocco Barazzoni, Fabiana Ziberna, Donna R Zwas, Yosefa Avraham, Piergiuseppe Agostoni, Tarcisio Not, Ugolino Livi and Gianfranco Sinagra
J. Clin. Med. 2019, 8(8), 1152; https://doi.org/10.3390/jcm8081152 - 01 Aug 2019
Cited by 6 | Viewed by 2698
Abstract
Background: Ghrelin may exert positive effects on cardiac structure and function in heart failure (HF) patients. Methods: We assessed ghrelin levels in 266 dilated cardiomyopathy (DCM) patients and in 200 age, gender and body mass index (BMI) matched controls. Further, we evaluated the [...] Read more.
Background: Ghrelin may exert positive effects on cardiac structure and function in heart failure (HF) patients. Methods: We assessed ghrelin levels in 266 dilated cardiomyopathy (DCM) patients and in 200 age, gender and body mass index (BMI) matched controls. Further, we evaluated the expression of ghrelin and growth hormone secretagogue-receptor (GHSR) in the myocardium of 41 DCM patients and in 11 controls. Results: DCM patients had significantly lower levels of total, acylated and unacylated ghrelin when compared to controls (p < 0.05 for all). In controls, we observed a negative correlation of ghrelin with age, male gender and BMI. These correlations were lost in the DCM group, except for male gender. Total ghrelin was higher in patients with more recent diagnosis when compared to patients with longer duration of the DCM (p = 0.033). Further, total ghrelin was higher in patients with lower left ventricular systolic function (<40% LVEF, vs. 40% ≤ LVEF < 49% vs. LVEF ≥ 50%: 480.8, vs. 429.7, vs. 329.5 pg/mL, respectively, p = 0.05). Ghrelin prepropeptide was expressed more in DCM patients than in controls (p = 0.0293) while GHSR was expressed less in DCM patients (p < 0.001). Furthermore, ghrelin showed an inverse correlation with its receptor (ρ = −0.406, p = 0.009), and this receptor showed a significant inverse correlation with Interleukin-1β (ρ = −0.422, p = 0.0103). Conclusion: DCM duration and severity are accompanied by alterations in the ghrelin–GHSR system. Full article
(This article belongs to the Special Issue The Metabolic Mechanisms of Cardiomyopathy)
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17 pages, 1192 KiB  
Article
Mortality from Alcoholic Cardiomyopathy: Exploring the Gap between Estimated and Civil Registry Data
by Jakob Manthey and Jürgen Rehm
J. Clin. Med. 2019, 8(8), 1137; https://doi.org/10.3390/jcm8081137 - 31 Jul 2019
Cited by 18 | Viewed by 3088
Abstract
Background: Based on civil registries, 26,000 people died from alcoholic cardiomyopathy (ACM) in 2015 globally. In the Global Burden of Disease (GBD) 2017 study, garbage coded deaths were redistributed to ACM, resulting in substantially higher ACM mortality estimates (96,669 deaths, 95% confidence interval: [...] Read more.
Background: Based on civil registries, 26,000 people died from alcoholic cardiomyopathy (ACM) in 2015 globally. In the Global Burden of Disease (GBD) 2017 study, garbage coded deaths were redistributed to ACM, resulting in substantially higher ACM mortality estimates (96,669 deaths, 95% confidence interval: 82,812–97,507). We aimed to explore the gap between civil registry and GBD mortality data, accounting for alcohol exposure as a cause of ACM. Methods: ACM mortality rates were obtained from civil registries and GBD for n = 77 countries. The relationship between registered and estimated mortality rates was assessed by sex and age groups, using Pearson correlation coefficients, in addition to comparing mortality rates with population alcohol exposure—the underlying cause of ACM. Results: Among people aged 65 years or older, civil registry mortality rates of ACM decreased markedly whereas GBD mortality rates increased. The widening gap of registered and estimated mortality rates in the elderly is reflected in a decrease of correlations. The age distribution of alcohol exposure is more consistent with the distribution of civil registry rather than GBD mortality rates. Conclusions: Among older adults, GBD mortality estimates of ACM seem implausible and are inconsistent with alcohol exposure. The garbage code redistribution algorithm should include alcohol exposure for ACM and other alcohol-attributable diseases. Full article
(This article belongs to the Special Issue The Metabolic Mechanisms of Cardiomyopathy)
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Review

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13 pages, 2337 KiB  
Review
Natural History of Arrhythmogenic Cardiomyopathy
by Giulia Mattesi, Alessandro Zorzi, Domenico Corrado and Alberto Cipriani
J. Clin. Med. 2020, 9(3), 878; https://doi.org/10.3390/jcm9030878 - 23 Mar 2020
Cited by 32 | Viewed by 4656
Abstract
Arrhythmogenic cardiomyopathy (AC) is a heart muscle disease characterized by a scarred ventricular myocardium with a distinctive propensity to ventricular arrhythmias (VAs) and sudden cardiac death, especially in young athletes. Arrhythmogenic right ventricular cardiomyopathy (ARVC) represents the best characterized variant of AC, with [...] Read more.
Arrhythmogenic cardiomyopathy (AC) is a heart muscle disease characterized by a scarred ventricular myocardium with a distinctive propensity to ventricular arrhythmias (VAs) and sudden cardiac death, especially in young athletes. Arrhythmogenic right ventricular cardiomyopathy (ARVC) represents the best characterized variant of AC, with a peculiar genetic background, established diagnostic criteria and management guidelines; however, the identification of nongenetic causes of the disease, combined with the common demonstration of biventricular and left-dominant forms, has led to coin the term of “arrhythmogenic cardiomyopathy”, to better define the broad spectrum of the disease phenotypic expressions. The genetic basis of AC are pathogenic mutations in genes encoding the cardiac desmosomes, but also non-desmosomal and nongenetic variants were reported in patients with AC, some of which showing overlapping phenotypes with other non-ischemic diseases. The natural history of AC is characterized by VAs and progressive deterioration of cardiac performance. Different phases of the disease are recognized, each characterized by pathological and clinical features. Arrhythmic manifestations are age-related: Ventricular fibrillation and SCD are more frequent in young people, while sustained ventricular tachycardia is more common in the elderly, depending on the different nature of the myocardial lesions. This review aims to address the genetic basis, the clinical course and the phenotypic variants of AC. Full article
(This article belongs to the Special Issue The Metabolic Mechanisms of Cardiomyopathy)
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31 pages, 2126 KiB  
Review
Metabolic Alterations in Inherited Cardiomyopathies
by Claudia Sacchetto, Vasco Sequeira, Edoardo Bertero, Jan Dudek, Christoph Maack and Martina Calore
J. Clin. Med. 2019, 8(12), 2195; https://doi.org/10.3390/jcm8122195 - 12 Dec 2019
Cited by 21 | Viewed by 4845
Abstract
The normal function of the heart relies on a series of complex metabolic processes orchestrating the proper generation and use of energy. In this context, mitochondria serve a crucial role as a platform for energy transduction by supplying ATP to the varying demand [...] Read more.
The normal function of the heart relies on a series of complex metabolic processes orchestrating the proper generation and use of energy. In this context, mitochondria serve a crucial role as a platform for energy transduction by supplying ATP to the varying demand of cardiomyocytes, involving an intricate network of pathways regulating the metabolic flux of substrates. The failure of these processes results in structural and functional deficiencies of the cardiac muscle, including inherited cardiomyopathies. These genetic diseases are characterized by cardiac structural and functional anomalies in the absence of abnormal conditions that can explain the observed myocardial abnormality, and are frequently associated with heart failure. Since their original description, major advances have been achieved in the genetic and phenotype knowledge, highlighting the involvement of metabolic abnormalities in their pathogenesis. This review provides a brief overview of the role of mitochondria in the energy metabolism in the heart and focuses on metabolic abnormalities, mitochondrial dysfunction, and storage diseases associated with inherited cardiomyopathies. Full article
(This article belongs to the Special Issue The Metabolic Mechanisms of Cardiomyopathy)
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12 pages, 1355 KiB  
Review
Metabolic Alterations in Cardiomyocytes of Patients with Duchenne and Becker Muscular Dystrophies
by Gabriella Esposito and Antonella Carsana
J. Clin. Med. 2019, 8(12), 2151; https://doi.org/10.3390/jcm8122151 - 05 Dec 2019
Cited by 18 | Viewed by 4245
Abstract
Duchenne and Becker muscular dystrophies (DMD/BMD) result in progressive weakness of skeletal and cardiac muscles due to the deficiency of functional dystrophin. Respiratory failure is a leading cause of mortality in DMD patients; however, improved management of the respiratory symptoms have increased patients’ [...] Read more.
Duchenne and Becker muscular dystrophies (DMD/BMD) result in progressive weakness of skeletal and cardiac muscles due to the deficiency of functional dystrophin. Respiratory failure is a leading cause of mortality in DMD patients; however, improved management of the respiratory symptoms have increased patients’ life expectancy, thereby also increasing the clinical relevance of heart disease. In fact, the prevalence of cardiomyopathy, which significantly contributes to mortality in DMD patients, increases with age and disease progression, so that over 95% of adult patients has cardiomyopathy signs. We here review the current literature featuring the metabolic alterations observed in the dystrophic heart of the mdx mouse, i.e., the best-studied animal model of the disease, and discuss their pathophysiological role in the DMD heart. It is well assessed that dystrophin deficiency is associated with pathological alterations of lipid metabolism, intracellular calcium levels, neuronal nitric oxide (NO) synthase localization, and NO and reactive oxygen species production. These metabolic stressors contribute to impair the function of the cardiac mitochondrial bulk, which has a relevant pathophysiological role in the development of cardiomyopathy. In fact, mitochondrial dysfunction becomes more severe as the dystrophic process progresses, thereby indicating it may be both the cause and the consequence of the dystrophic process in the DMD heart. Full article
(This article belongs to the Special Issue The Metabolic Mechanisms of Cardiomyopathy)
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