Genetic Insights into Sudden Cardiac Death: From Risk Stratification to Precision Prevention

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

Deadline for manuscript submissions: 31 August 2026 | Viewed by 1953

Special Issue Editors


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

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; rare disease; heart failure; heart transplantation; machine learning
Special Issues, Collections and Topics in MDPI journals

E-Mail Website
Guest Editor
Department of Clinical Genetics, Maastricht University Medical Center, 6229 HX Maastricht, The Netherlands
Interests: cardiogenetics; inherited arrhythmia syndromes; sudden cardiac death; cardiogenetics and sports

Special Issue Information

Dear Colleagues,

Sudden cardiac death (SCD) remains a major public health concern and a devastating event, particularly when it affects young individuals with no prior symptoms. Inherited cardiac diseases, such as cardiomyopathies and channelopathies, are increasingly recognized as key contributors to SCD, especially in younger populations. The rapid evolution of genomic technologies and our growing understanding of gene–disease associations are opening new possibilities for early detection, risk stratification, and targeted interventions.

This Special Issue aims to capture the latest advances in the genetic and molecular underpinnings of SCD, bridging basic science and clinical practice. We invite original research, systematic reviews, and illustrative case reports on topics including, but not limited to, the following:

  • Discovery of novel genes and variants associated with SCD;
  • Genotype–phenotype correlations in inherited cardiac disorders;
  • Risk stratification algorithms integrating clinical, imaging, and genetic data;
  • Role of whole exome/genome sequencing and polygenic risk scores;
  • Sudden death in rare diseases and systemic conditions with cardiac involvement;
  • Forensic and ethical aspects of post mortem genetic testing ("molecular autopsy");
  • Impact of family screening and genetic counseling in prevention strategies.

This Special Issue will provide a comprehensive platform for sharing insights into how genetic knowledge is transforming the prevention and management of SCD, with the ultimate goal of improving outcomes through more personalized and anticipatory approaches to care.

Dr. Giuseppe Limongelli
Dr. Lia Crotti
Dr. Emanuele Bobbio
Dr. Saskia Nanette Van Der Crabben
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 250 words) can be sent to the Editorial Office for assessment.

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 1600 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

  • sudden cardiac death
  • inherited cardiac disorders
  • cardiomyopathy
  • channelopathy
  • genetic testing
  • risk stratification

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.
  • Reprint: MDPI Books provides the opportunity to republish successful Special Issues in book format, both online and in print.

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

Published Papers (1 paper)

Order results
Result details
Select all
Export citation of selected articles as:

Review

22 pages, 1275 KB  
Review
The Genetic Architecture of Sudden Cardiac Death: A State-of-the-Art Review
by Sabrina Montuoro, Emanuele Monda, Gaetano Diana, Emanuele Bobbio, Vera Fico, Marta Rubino, Martina Caiazza, Adelaide Fusco, Annapaola Cirillo, Federica Verrillo, Francesca Dongiglio, Giuseppe Palmiero, Federica Barra, Giulia Frisso, Maria Giovanna Russo, Paolo Calabrò and Giuseppe Limongelli
Cardiogenetics 2026, 16(1), 6; https://doi.org/10.3390/cardiogenetics16010006 - 19 Mar 2026
Viewed by 740
Abstract
Sudden cardiac death (SCD) is a major global health issue, defined as sudden natural death presumed to be of cardiac cause. While in the elderly SCD is commonly associated with coronary artery disease, in the younger population it is linked to inherited cardiomyopathies [...] Read more.
Sudden cardiac death (SCD) is a major global health issue, defined as sudden natural death presumed to be of cardiac cause. While in the elderly SCD is commonly associated with coronary artery disease, in the younger population it is linked to inherited cardiomyopathies or channelopathies, even though SCD can remain unexplained even after a comprehensive autopsy in a substantial proportion of cases. In this context, genetic testing has gained importance, supported by the widespread availability of techniques such as next-generation and whole-exome/genome sequencing and their reduced costs. This state-of-the-art review summarizes the genetic bases of sudden cardiac death among cardiomyopathies, channelopathies and in sudden unexplained death presumed to be of arrhythmic cause. Among the structural causes, inherited cardiomyopathies such as hypertrophic, dilated, non-dilated left ventricular, arrhythmogenic right ventricular and restrictive ones represent major substrates for malignant ventricular arrhythmias mostly arising from variants in sarcomeric or desmosomal genes. Channelopathies (long or short QT syndrome, Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia) are caused by variants in genes encoding cardiac ion channels and/or regulatory proteins, which equally predispose to high risk of life-threatening ventricular arrhythmias. In sudden arrhythmic death syndrome, with a structurally normal heart, post-mortem genetic testing (molecular autopsy) can uncover an underlying inherited condition. However, variants of uncertain significance are detected in more than half of the cases, underscoring the need for a multidisciplinary approach. Genetic testing also plays a key role in cascade screening of first-degree relatives. While monogenic variants drive risk in inherited cardiac disorders, emerging evidence suggests that polygenic contributions may modulate SCD susceptibility, highlighting future roles for polygenic risk scores in risk stratification. Full article
Show Figures

Figure 1

Back to TopTop