From Mendelian to Complex Genetics: Why Testing in Cardiovascular Diseases

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

Deadline for manuscript submissions: closed (15 December 2023) | Viewed by 520

Special Issue Editors


E-Mail Website
Guest Editor
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA
Interests: cardiovascular genetics; genetics of cardiomyopathies; genetics of arrhythmias; molecular genetics
Special Issues, Collections and Topics in MDPI journals

E-Mail Website
Guest Editor
Centro Cardiologico Monzino, Milan, Italy
Interests: ventricular arrhythmias; sudden cardiac death (SCD); basic science
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The recent developments in sequencing technology have revealed extraordinary applications into clinical diagnostics. Although diagnostic testing has become widely applied and fully integrated into specialty and mainstream medical practice for hereditary and somatic cancer patients, among other medical specialties, the adoption of genetic testing in cardiology practice is still lagging, despite all official guidelines strongly supporting and encouraging a wide utilization. It appears that, among cardiology practitioners, there may be the perception that, unlike other clinical areas, genetic testing may not provide sufficient clinical utility and implementation to patients’ therapy and management.

In this Special Issue of Cardiogenetics, we will discuss (1) the current genetic diagnostic applications and novel therapeutic interventions for genetic cardiovascular diseases with an impact on clinical utility, (2) the importance of key clinical details and the use of big data to refine variant interpretation, and (3) the utilization of comprehensive gene panels to unveil previously underrecognized syndromic presentation or unexpected findings leading to reassessment of the clinical approach. Finally, moving from the Mendelian genetics, we will assess the current knowledge regarding more complex genetic traits, such as coronary artery disease (CAD) or primary arrhythmias with otherwise genotype-negative results, which could benefit from the polygenic risk score (PRS) that can provide cardiologists with a probabilistic assessment of disease risk stratification.

Dr. Matteo Vatta
Dr. Valeria Novelli
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

  • cardiovascular genetics
  • clinical utility
  • diagnostic yield
  • polygenic risk score
  • coronary artery disease

Benefits of Publishing in a Special Issue

  • Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
  • Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
  • Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
  • External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
  • e-Book format: Special Issues with more than 10 articles can be published as dedicated e-books, ensuring wide and rapid dissemination.

Further information on MDPI's Special Issue polices can be found here.

Published Papers

There is no accepted submissions to this special issue at this moment.
Back to TopTop