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Biomolecules
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10th Anniversary of Biomolecules—Recent Advances in Cardiomyopathy
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10th Anniversary of Biomolecules—Recent Advances in Cardiomyopathy

A special issue of Biomolecules (ISSN 2218-273X). This special issue belongs to the section "Molecular Genetics".

Deadline for manuscript submissions: closed (30 November 2021) | Viewed by 16572

Special Issue Editors

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
Dr. Martina Caiazza

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: genotype; genetic disorders; rare disease; genetic cardiovascular diseases; NGS
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This year marks the 10th anniversary of the open access MDPI journal Biomolecules. To celebrate this important occasion, we are delighted and proud to celebrate with a series of Special Issues and events. To date, the journal has received more than 6000 contributions and published more than 2600 articles, and the journal website attracts more than 26,483 monthly page views. We would like to express our sincerest thanks to our readers, innumerable authors, anonymous peer reviewers, editors, and all the people working in some way for the journal who have made substantial contributions for years. Without your support, we would never have made it.

To mark this important milestone, a Special Issue entitled “10th Anniversary of Biomolecules—Recent Advances in Cardiomyopathy” is being launched. This Special Issue will collect research articles, and high-quality review papers in the research fields relating to Molecular Genetics. We kindly encourage research groups working in various areas of Molecular Genetics to make contributions to this Special Issue.

A scientific journal is the collaborative achievement of many scientists from all over the world and we would like to thank all our authors and reviewers who have contributed to the Special Issue for their support. In recognition of our authors’ continued support, Biomolecules is pleased to announce that the “Biomolecules Best Paper Awards for Anniversary Special Issues” will be launched and granted to the best papers published in the Anniversary Special Issues. See details at:

https://www.mdpi.com/journal/biomolecules/awards

text

Prof. Giuseppe Limongelli
Dr. Martina Caiazza
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. Biomolecules 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 2700 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 Heart Muscle Diseases
  • Molecular and Clinical Aspects of Inherited Cardiomyopathies
  • Multimodality Imaging of Heart Muscle Disease
  • Rare Cardiomyopathies

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Published Papers (5 papers)

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Research

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15 pages, 986 KiB  
Article
Insights from Cardiopulmonary Exercise Testing in Pediatric Patients with Hypertrophic Cardiomyopathy
by Giovanna Gallo, Vittoria Mastromarino, Giuseppe Limongelli, Giulio Calcagni, Antonello Maruotti, Luca Ragni, Fabio Valente, Maria Beatrice Musumeci, Rachele Adorisio, Marta Rubino, Camillo Autore and Damiano Magrì
Biomolecules 2021, 11(3), 376; https://doi.org/10.3390/biom11030376 - 2 Mar 2021
Cited by 6 | Viewed by 2626
Abstract
The usefulness of cardiopulmonary exercise test (CPET) in adult hypertrophic cardiomyopathy (HCM) patients is well-known, whereas its role in pediatric HCM patients has not yet been explored. The present study investigates possible insights from a CPET assessment in a cohort of pediatric HCM [...] Read more.
The usefulness of cardiopulmonary exercise test (CPET) in adult hypertrophic cardiomyopathy (HCM) patients is well-known, whereas its role in pediatric HCM patients has not yet been explored. The present study investigates possible insights from a CPET assessment in a cohort of pediatric HCM outpatients in terms of functional and prognostic assessment. Sixty consecutive pediatric HCM outpatients aged <18 years old were enrolled, each of them undergoing a full clinical assessment including a CPET; a group of 60 healthy subjects served as controls. A unique composite end-point of heart failure (HF) related and sudden cardiac death (SCD) or SCD-equivalent events was also explored. During a median follow-up of 53 months (25th–75th: 13–84 months), a total of 13 HF- and 7 SCD-related first events were collected. Compared to controls, HCM patients showed an impaired functional capacity with most of them showing peak oxygen uptake (pVO2) values of <80% of the predicted, clearly discrepant with functional New York Heart Association class assessment. The composite end-point occurred more frequently in patients with the worst CPETs’ profiles. At the univariate analysis, pVO2% was the variable with the strongest association with adverse events at follow-up (C-index = 0.72, p = 0.025) and a cut-off value equal to 60% was the most accurate in identifying those patients at the highest risk. In a pediatric HCM subset, the CPET assessment allows a true functional capacity estimation and it might be helpful in identifying early those patients at high risk of events. Full article
(This article belongs to the Special Issue 10th Anniversary of Biomolecules—Recent Advances in Cardiomyopathy)
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Review

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17 pages, 549 KiB  
Review
Glycemic Control and the Heart: The Tale of Diabetic Cardiomyopathy Continues
by Miriam Longo, Lorenzo Scappaticcio, Paolo Cirillo, Antonietta Maio, Raffaela Carotenuto, Maria Ida Maiorino, Giuseppe Bellastella and Katherine Esposito
Biomolecules 2022, 12(2), 272; https://doi.org/10.3390/biom12020272 - 8 Feb 2022
Cited by 19 | Viewed by 3641
Abstract
Cardiovascular diseases are the leading cause of death in people with diabetes. Diabetic cardiomyopathy (DC) is an important complication of diabetes and represents a distinct subtype of heart failure that occurs in absence of cardiovascular diseases. Chronic hyperglycemia and hyperinsulinemia along with insulin [...] Read more.
Cardiovascular diseases are the leading cause of death in people with diabetes. Diabetic cardiomyopathy (DC) is an important complication of diabetes and represents a distinct subtype of heart failure that occurs in absence of cardiovascular diseases. Chronic hyperglycemia and hyperinsulinemia along with insulin resistance and inflammatory milieu are the main mechanisms involved in the pathophysiology of DC. Changes in lifestyle favoring healthy dietary patterns and physical activity, combined with more innovative anti-diabetes therapies, are the current treatment strategies to safeguard the cardiovascular system. This review aims at providing an updated comprehensive overview of clinical, pathogenetic, and molecular aspects of DC, with a focus on the effects of anti-hyperglycemic drugs on the prevention of pump dysfunction and consequently on cardiovascular health in type 2 diabetes. Full article
(This article belongs to the Special Issue 10th Anniversary of Biomolecules—Recent Advances in Cardiomyopathy)
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15 pages, 802 KiB  
Review
Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children
by Anwar Baban, Valentina Lodato, Giovanni Parlapiano, Corrado di Mambro, Rachele Adorisio, Enrico Silvio Bertini, Carlo Dionisi-Vici, Fabrizio Drago and Diego Martinelli
Biomolecules 2021, 11(11), 1578; https://doi.org/10.3390/biom11111578 - 25 Oct 2021
Cited by 7 | Viewed by 3404
Abstract
Neuromuscular disorders (NMDs) are highly heterogenous from both an etiological and clinical point of view. Their signs and symptoms are often multisystemic, with frequent cardiac involvement. In fact, childhood onset forms can predispose a person to various progressive cardiac abnormalities including cardiomyopathies (CMPs), [...] Read more.
Neuromuscular disorders (NMDs) are highly heterogenous from both an etiological and clinical point of view. Their signs and symptoms are often multisystemic, with frequent cardiac involvement. In fact, childhood onset forms can predispose a person to various progressive cardiac abnormalities including cardiomyopathies (CMPs), valvulopathies, atrioventricular conduction defects (AVCD), supraventricular tachycardia (SVT) and ventricular arrhythmias (VA). In this review, we selected and described five specific NMDs: Friedreich’s Ataxia (FRDA), congenital and childhood forms of Myotonic Dystrophy type 1 (DM1), Kearns Sayre Syndrome (KSS), Ryanodine receptor type 1-related myopathies (RYR1-RM) and Laminopathies. These changes are widely investigated in adults but less researched in children. We focused on these specific topics due their relative frequency and their potential unexpected cardiac manifestations in children. Moreover these conditions present different inheritance patterns and mechanisms of action. We decided not to discuss Duchenne and Becker muscular dystrophies due to extensive work regarding the cardiac aspects in children. For each described NMD, we focused on the possible cardiac manifestations such as different types of CMPs (dilated-DCM, hypertrophic-HCM, restrictive-RCM or left ventricular non compaction-LVNC), structural heart abnormalities (including valvulopathies), and progressive heart rhythm changes (AVCD, SVT, VA). We describe the current management strategies for these conditions. We underline the importance, especially for children, of a serial multidisciplinary personalized approach and the need for periodic surveillance by a dedicated heart team. This is largely due to the fact that in children, the diagnosis of certain NMDs might be overlooked and the cardiac aspect can provide signs of their presence even prior to overt neurological diagnosis. Full article
(This article belongs to the Special Issue 10th Anniversary of Biomolecules—Recent Advances in Cardiomyopathy)
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14 pages, 766 KiB  
Review
An Emergent Form of Cardiotoxicity: Acute Myocarditis Induced by Immune Checkpoint Inhibitors
by Roberta Esposito, Teresa Fedele, Silvia Orefice, Vittoria Cuomo, Maria Prastaro, Mario Enrico Canonico, Federica Ilardi, Francesco De Stefano, Ludovica Fiorillo, Ciro Santoro and Giovanni Esposito
Biomolecules 2021, 11(6), 785; https://doi.org/10.3390/biom11060785 - 22 May 2021
Cited by 9 | Viewed by 3382
Abstract
Immune checkpoint inhibitors (ICIs) are monoclonal antibodies that activate the immune system, aiming at enhancing antitumor immunity. ICIs have shown great promise in the treatment of several advanced malignancies. However, therapy with these immunomodulatory antibodies may lead to a wide spectrum of immune-related [...] Read more.
Immune checkpoint inhibitors (ICIs) are monoclonal antibodies that activate the immune system, aiming at enhancing antitumor immunity. ICIs have shown great promise in the treatment of several advanced malignancies. However, therapy with these immunomodulatory antibodies may lead to a wide spectrum of immune-related adverse events in any organ and any tissue. Cardiologic immune-related events include pericarditis, pericardial effusion, various types of arrhythmias including the occurrence of complete atrioventricular block, myocardial infarction, heart failure, and myocarditis. Although relatively rare, myocarditis is associated with a very high reported mortality in comparison to other adverse events. Myocarditis often presents significant diagnostic complexity and may be under-recognized. When confronted with an unexpected change in the clinical picture, the physician must differentiate between immune-related adverse events, cancer worsening, or other causes unrelated to the cancer or its therapy. However, this is not always easy. Therefore, with the increasing use of checkpoint inhibitors in cancer, all providers who care for patients with cancer should be made aware of this rare, but potentially fatal, cardiologic immune-related adverse event, and able to recognize when prompt consultation with a cardiologist specialist is indicated. In this review, we evaluate currently available scientific evidence and discuss clinical manifestations and new potential approaches to the diagnosis and therapy of acute myocarditis induced by ICIs. Temporary or permanent discontinuation of the ICIs and high-dose steroids have been administered to treat myocarditis, but symptoms may worsen in some patients despite therapy. Full article
(This article belongs to the Special Issue 10th Anniversary of Biomolecules—Recent Advances in Cardiomyopathy)
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Other

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6 pages, 749 KiB  
Case Report
Troponin T Mutation as a Cause of Left Ventricular Systolic Dysfunction in a Young Patient with Previous Surgical Correction of Aortic Coarctation
by Martina Caiazza, Michele Lioncino, Emanuele Monda, Francesco Di Fraia, Federica Verrillo, Roberta Pacileo, Federica Amodio, Marta Rubino, Annapaola Cirillo, Adelaide Fusco, Emanuele Romeo, Alessandra Scatteia, Santo Dellegrottaglie, Paolo Calabrò, Berardo Sarubbi, Anwar Baban, Giulia Frisso, Maria Giovanna Russo and Giuseppe Limongelli
Biomolecules 2021, 11(5), 696; https://doi.org/10.3390/biom11050696 - 6 May 2021
Cited by 4 | Viewed by 2196
Abstract
Coarctation of the aorta is a leading cause of morbidity and mortality among adults with congenital heart disease (ACHD). Lifelong surveillance is mandatory to screen for possible long-term cardiovascular events. Left ventricular systolic dysfunction has been reported in association with recoarctation, and association [...] Read more.
Coarctation of the aorta is a leading cause of morbidity and mortality among adults with congenital heart disease (ACHD). Lifelong surveillance is mandatory to screen for possible long-term cardiovascular events. Left ventricular systolic dysfunction has been reported in association with recoarctation, and association with dilated cardiomyopathy (DCMP) is very rare. Herein, we report the case of a 19-year-old boy with coarctation of the aorta who complained of mild exertional dyspnea. Cardiac magnetic resonance revealed a moderately dilated, hypokinetic left ventricle (LV), with mildly reduced EF (45%), and residual isthmic coarctation was excluded. Genetic tests revealed a heterozygous missense variant in TNNT2 (NM_001001430.2): c.518G>A (p. Arg173Gln). This case highlights the role of careful history taking: a family history of cardiomyopathy should not be overlooked even when the clinical setting seems to suggest a predisposition to hemodynamic factors for LVSD. Full article
(This article belongs to the Special Issue 10th Anniversary of Biomolecules—Recent Advances in Cardiomyopathy)
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