Special Issue "Cardiogenetics: Feature Papers 2021"

A special issue of Cardiogenetics (ISSN 2035-8148).

Deadline for manuscript submissions: 31 December 2021.

Special Issue Editors

Prof. Dr. Giuseppe Limongelli
E-Mail Website
Guest Editor
1. Department of Translational Medicine, “Luigi Vanvitelli” University, 81100 Caserta, Italy
2. AORN Colli, Monaldi Hospital, 80131 Naples, Italy
Interests: inherited heart disease; rare cardiovascular disease; cardiomyopathies; ion channel disease; heart failure; congenital heart disease; athlete’s heart
Special Issues and Collections in MDPI journals
Prof. Dr. Lia Crotti
E-Mail Website
Guest Editor
1. Cardiomyopathy Unit, Department of Cardiovascular, Neural and Metabolic Sciences, San Luca Hospital, IRCCS Istituto Auxologico Italiano, 20149 Milan, Italy
2. Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, IRCCS Istituto Auxologico Italiano, 20135 Milan, Italy
3. Department of Medicine and Surgery, University of Milano-Bicocca, 20126 Milan, Italy
Interests: channelopathies; cardiomyopathies; sudden cardiac death; molecular cardiology

Special Issue Information

Dear Colleagues,

As Editor-in-Chief of the journal Cardiogenetics, we are glad to announce the Special Issue “Cardiogenetics: Feature Papers 2021” online. Cardiogenetics (ISSN 2035-8148) is an international, peer-reviewed, open access journal which provides an advanced forum for studies related to all aspects of cardiogenetics (clinical, molecular, cellular, pharmacological). In this Special Issue, “Feature Papers”, we aim to publish outstanding contributions in the main fields covered by the journal, which will make a great contribution to the community.

We welcome high-quality papers falling in the scope of the journal. Submitted papers will be evaluated by Editors firstly. Please note that all the papers will be subjected to a thorough and rigorous peer review.

Prof. Dr. Giuseppe Limongelli
Prof. Dr. Lia Crotti
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 papers will be 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. Cardiogenetics is an international peer-reviewed open access quarterly 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 1000 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

  • clinical and molecular aspects of inherited heart diseases (IHDs): genotype–phenotype findings
  • follow-up data from IHD clinics
  • clinical findings from large and informative families with IHDs
  • studies on molecular imaging in IHDs
  • clinical and molecular aspects of rare diseases: clinical imaging and molecular findings of rare diseases (RDs) with cardiovascular involvement
  • pharmacogenetics and Pharmacogenomics: studies involving new drugs or well-known therapies in IHDs, RDs, and cardiovascular medicine
  • genetic/genomic profile and response to therapies
  • stem cell studies: clinical trials and experimental studies involving cell studies/cell therapy
  • diagnostic methods including sequencing studies
  • bioinformatics and statistical methods in genetics
  • personalized medicine and therapies (gene therapy and gene editing)
  • molecular biology and pathophysiology of genetic and genomic diseases: biology of cell, pathways and systems, epigenetics and gene regulation, biology and pathophysiology of specific genes and non-coding DNA
  • polygenic/multifactorial disorders

Published Papers (2 papers)

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Research

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Communication
Pathogenic Intronic Splice-Affecting Variants in MYBPC3 in Three Patients with Hypertrophic Cardiomyopathy
Cardiogenetics 2021, 11(2), 73-83; https://doi.org/10.3390/cardiogenetics11020009 - 02 Jun 2021
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Abstract
Genetic variants in MYBPC3 are one of the most common causes of hypertrophic cardiomyopathy (HCM). While variants in MYBPC3 affecting canonical splice site dinucleotides are a well-characterised cause of HCM, only recently has work begun to investigate the pathogenicity of more deeply intronic [...] Read more.
Genetic variants in MYBPC3 are one of the most common causes of hypertrophic cardiomyopathy (HCM). While variants in MYBPC3 affecting canonical splice site dinucleotides are a well-characterised cause of HCM, only recently has work begun to investigate the pathogenicity of more deeply intronic variants. Here, we present three patients with HCM and intronic splice-affecting MYBPC3 variants and analyse the impact of variants on splicing using in vitro minigene assays. We show that the three variants, a novel c.927-8G>A variant and the previously reported c.1624+4A>T and c.3815-10T>G variants, result in MYBPC3 splicing errors. Analysis of blood-derived patient RNA for the c.3815-10T>G variant revealed only wild type spliced product, indicating that mis-spliced transcripts from the mutant allele are degraded. These data indicate that the c.927-8G>A variant of uncertain significance and likely benign c.3815-10T>G should be reclassified as likely pathogenic. Furthermore, we find shortcomings in commonly applied bioinformatics strategies to prioritise variants impacting MYBPC3 splicing and re-emphasise the need for functional assessment of variants of uncertain significance in diagnostic testing. Full article
(This article belongs to the Special Issue Cardiogenetics: Feature Papers 2021)
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Review

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Review
Constraints in Clinical Cardiology and Personalized Medicine: Interrelated Concepts in Clinical Cardiology
Cardiogenetics 2021, 11(2), 50-67; https://doi.org/10.3390/cardiogenetics11020007 - 10 May 2021
Viewed by 364
Abstract
Systems biology is established as an integrative computational analysis methodology with practical and theoretical applications in clinical cardiology. The integration of genetic and molecular components of a disease produces interacting networks, modules and phenotypes with clinical applications in complex cardiovascular entities. With the [...] Read more.
Systems biology is established as an integrative computational analysis methodology with practical and theoretical applications in clinical cardiology. The integration of genetic and molecular components of a disease produces interacting networks, modules and phenotypes with clinical applications in complex cardiovascular entities. With the holistic principle of systems biology, some of the features of complexity and natural progression of cardiac diseases are approached and explained. Two important interrelated holistic concepts of systems biology are described; the emerging field of personalized medicine and the constraint-based thinking with downward causation. Constraints in cardiovascular diseases embrace three scientific fields related to clinical cardiology: biological and medical constraints; constraints due to limitations of current technology; and constraints of general resources for better medical coverage. Systems healthcare and personalized medicine are connected to the related scientific fields of: ethics and legal status; data integration; taxonomic revisions; policy decisions; and organization of human genomic data. Full article
(This article belongs to the Special Issue Cardiogenetics: Feature Papers 2021)
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