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Cardiogenetics
Special Issues
Cardiogenetics: Feature Papers 2022
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Cardiogenetics: Feature Papers 2022

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

Deadline for manuscript submissions: closed (31 December 2022) | Viewed by 10943

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. 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 Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

As Editor-in-Chief of the journal Cardiogenetics, we are glad to announce the Special Issue “Cardiogenetics: Feature Papers 2022” 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 within the scope of the journal. Submitted papers will first be evaluated by Editors. Please note that all the papers will be subjected to a thorough and rigorous peer review.

Dr. Giuseppe Limongelli
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 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. 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 1400 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

  • 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 (3 papers)

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Review

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9 pages, 1766 KiB  
Review
Moderately Prolonged QTc in Computer-Assessed ECG, Random Variation or Significant Risk Factor? A Literature Review
by Jan Hysing, Charlotte Gibbs, Øystein Lunde Holla, Jacob Thalamus and Kristina H. Haugaa
Cardiogenetics 2022, 12(3), 261-269; https://doi.org/10.3390/cardiogenetics12030025 - 08 Sep 2022
Cited by 1 | Viewed by 2977
Abstract
Most ECGs in European hospitals are recorded with equipment giving computer measured intervals and interpretation of the recording. In addition to measurements of interval and QRS axis, this interpretation frequently provides the Bazett’s-corrected QTc time. The introduction of computer-corrected QTc revealed QTc prolongation [...] Read more.
Most ECGs in European hospitals are recorded with equipment giving computer measured intervals and interpretation of the recording. In addition to measurements of interval and QRS axis, this interpretation frequently provides the Bazett’s-corrected QTc time. The introduction of computer-corrected QTc revealed QTc prolongation to be a frequent condition among medical patients. Nevertheless, the finding is frequently overlooked by the treating physician. The authors combine experience from a local hospital with a review of the current literature in this field in order to elucidate the importance of this risk factor both as congenital long QT syndrome and as acquired QT prolongation. Full article
(This article belongs to the Special Issue Cardiogenetics: Feature Papers 2022)
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Other

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6 pages, 1151 KiB  
Case Report
Clinical Exome Sequencing Revealed a De Novo FLNC Mutation in a Child with Restrictive Cardiomyopathy
by Francesca Girolami, Silvia Passantino, Adelaide Ballerini, Alessia Gozzini, Giulio Porcedda, Iacopo Olivotto and Silvia Favilli
Cardiogenetics 2022, 12(2), 206-211; https://doi.org/10.3390/cardiogenetics12020019 - 10 Jun 2022
Cited by 1 | Viewed by 2297
Abstract
Restrictive cardiomyopathy (RCM) is a rare disease of the myocardium caused by mutations in several genes including TNNT2, DES, TNNI3, MYPN and FLNC. Individuals affected by RCM often develop heart failure at a young age, requiring early heart transplantation. A 7-year-old patient [...] Read more.
Restrictive cardiomyopathy (RCM) is a rare disease of the myocardium caused by mutations in several genes including TNNT2, DES, TNNI3, MYPN and FLNC. Individuals affected by RCM often develop heart failure at a young age, requiring early heart transplantation. A 7-year-old patient was referred for genetic testing following a diagnosis of restrictive cardiomyopathy. Clinical exome sequencing analysis identified a likely pathogenic mutation in the FLNC gene [(NM_001458.5 c.6527_6547dup p.(Arg2176_2182dup)]. Its clinical relevance was augmented by the fact that this variant was absent in the parents and was thus interpreted as de novo. Genetic testing is a powerful tool to clarify the diagnosis, guide intervention strategies and enable cascade testing in patients with pediatric-onset RCM. Full article
(This article belongs to the Special Issue Cardiogenetics: Feature Papers 2022)
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9 pages, 12872 KiB  
Case Report
Pancarditis as the Clinical Presentation of Eosinophilic Granulomatosis with Polyangiitis: A Multimodality Approach to Diagnosis
by Michele Lioncino, Emanuele Monda, Santo Dellegrottaglie, Annapaola Cirillo, Martina Caiazza, Adelaide Fusco, Francesca Esposito, Federica Verrillo, Giovanni Ciccarelli, Marta Rubino, Massimo Triggiani, Raffaele Scarpa, Alida Linda Patrizia Caforio, Renzo Marcolongo, Stefania Rizzo, Cristina Basso, Gerardo Nigro, Maria Giovanna Russo, Paolo Golino and Giuseppe Limongelli
Cardiogenetics 2022, 12(2), 133-141; https://doi.org/10.3390/cardiogenetics12020014 - 28 Mar 2022
Cited by 1 | Viewed by 4948
Abstract
Eosinophilic pancarditis (EP) is a rare, often unrecognized condition caused by endomyocardial infiltration of eosinophil granulocytes (referred as eosinophilic myocarditis, EM) associated with pericardial involvement. EM has a variable clinical presentation, ranging from asymptomatic cases to acute cardiogenic shock requiring mechanical circulatory support [...] Read more.
Eosinophilic pancarditis (EP) is a rare, often unrecognized condition caused by endomyocardial infiltration of eosinophil granulocytes (referred as eosinophilic myocarditis, EM) associated with pericardial involvement. EM has a variable clinical presentation, ranging from asymptomatic cases to acute cardiogenic shock requiring mechanical circulatory support (MCS) or chronic restrictive cardiomyopathy at high risk of progression to dilated cardiomyopathy (DCM). EP is associated with high in-hospital mortality, particularly when associated to endomyocardial thrombosis, coronary arteries vasculitis or severe left ventricular systolic dysfunction. To date, there is a lack of consensus about the optimal diagnostic algorithm and clinical management of patients with biopsy-proven EP. The differential diagnosis includes hypersensitivity myocarditis, eosinophil granulomatosis with polyangiitis (EGPA), hypereosinophilic syndrome, parasitic infections, pregnancy-related hypereosinophilia, malignancies, drug overdose (particularly clozapine) and Omenn syndrome (OMIM 603554). To our knowledge, we report the first case of pancarditis associated to eosinophilic granulomatosis with polyangiitis (EGPA) with negative anti-neutrophil cytoplasmic antibodies (ANCA). Treatment with steroids and azathioprine was promptly started. Six months later, the patient developed a relapse: treatment with subcutaneous mepolizumab was added on the top of standard therapy, with prompt disease activity remission. This case highlights the role of a multimodality approach for the diagnosis of cardiac involvement associated to systemic immune disorders. Full article
(This article belongs to the Special Issue Cardiogenetics: Feature Papers 2022)
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