Special Issue "From Mendelian to Complex Genetics: Why Testing in Cardiovascular Diseases"
A special issue of Cardiogenetics (ISSN 2035-8148).
Deadline for manuscript submissions: 15 December 2021.
Interests: cardiovascular genetics; genetics of cardiomyopathies; genetics of arrhythmias
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
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.
- Cardiovascular genetics
- Clinical utility
- Diagnostic yield
- Polygenic risk score
- Coronary artery disease