Special Issue "Genetic Diagnostics in Inherited Cardiomyopathies"

A special issue of Cardiogenetics (ISSN 2035-8148). This special issue belongs to the section "Cardiovascular Genetics in Clinical Practice".

Deadline for manuscript submissions: 20 September 2021.

Special Issue Editors

Dr. Tiina Heliö
E-Mail Website
Guest Editor
Heart and Lung Center, Helsinki University Hospital, Helsinki, Finland
Interests: cardiomyopathies; cardiovascular genetics; genetic testing
Prof. Dr. Juha W. Koskenvuo
E-Mail Website
Guest Editor
Blueprint Genetics, Helsinki, Finland
Interests: cardiovascular genetics; sequencing; diagnostics
Prof. Dr. Katriina Aalto-Setälä
E-Mail Website
Guest Editor
Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland
Interests: cardiomyopathies; stem cell differentiation; tissue engineering; stem cell culture; regenerative medicine; coronary artery disease

Special Issue Information

Dear Colleagues,

Inherited cardiomyopathies in adults and children present a complex challenge to clinicians. The most feared complication, sudden cardiac death, may occur without previous significant signs or symptoms of cardiac disease. The clinical diagnosis of cardiomyopathies is mainly based on cardiac imaging, either using echocardiography or cardiac magnetic resonance imaging. These imaging examinations are typically utilized for patients with a clinical suspicion of a cardiac disease. To recognize family members who might develop a similar cardiomyopathy is sometimes difficult with clinical examination only. Once clinical diagnosis of the index patient has been established, genetic testing may reveal the disease-causing genetic variant. With this it is possible to screen family members for this particular variant. Those individuals who carry the variant can be referred to follow-up, potential treatment, and lifestyle modifications, whereas those not carrying the variant can be relieved from the need of follow-up and various restrictions. Clinical genetic testing has rapidly become a powerful diagnostic tool among others in cardiology. The rapid development of sequencing technologies and variant interpretation has made it possible to use genetic testing for clinical purposes. This Special Issue is focused on the use of genetic testing and genetic background analysis of the most prevalent cardiomyopathy subtypes.

Prof. Dr. Tiina Heliö
Prof. Dr. Juha W. Koskenvuo
Prof. Dr. Katriina Aalto-Setälä
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

  • Hypertrophic cardiomyopathy
  • Dilated cardiomyopathy
  • Arrhythmogenic right ventricular cardiomyopathy
  • Arrhythmogenic cardiomyopathy
  • Mitochondrial cardiomyopathy
  • Pediatric cardiomyopathy
  • Genetic testing
  • Inherited cardiomyopathies

Published Papers (1 paper)

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Case Report
Genetic Diagnosis in Sudden Cardiac Death: The Crucial Role of Multidisciplinary Care
Cardiogenetics 2021, 11(2), 68-72; https://doi.org/10.3390/cardiogenetics11020008 - 13 May 2021
Viewed by 344
Abstract
Sudden death, especially at a young age, may be caused by an underlying genetic cause. Hereditary conditions with an increased risk of sudden death at a young age include cardiomyopathies, arrhythmia syndromes, and hereditary thoracic aortic aneurysms and dissections. The identification of a [...] Read more.
Sudden death, especially at a young age, may be caused by an underlying genetic cause. Hereditary conditions with an increased risk of sudden death at a young age include cardiomyopathies, arrhythmia syndromes, and hereditary thoracic aortic aneurysms and dissections. The identification of a genetic cause allows for genetic testing and cardiological surveillance in at-risk relatives. Three sudden death cases from our hospital illustrate the value of autopsy, genetic, and cardiological screening in relatives following a sudden death. On autopsy, histology consistent with hereditary cardiomyopathy is a reason for the referral of relatives. In addition, in the absence of an identifiable cause of death by autopsy in young sudden death patients, arrhythmia syndrome should be considered as a potential genetic cause. Full article
(This article belongs to the Special Issue Genetic Diagnostics in Inherited Cardiomyopathies)
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