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Cardiogenetics
Special Issues
Genetics of Inherited Arrhythmogenic Syndromes Associated with Sudden Death
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Genetics of Inherited Arrhythmogenic Syndromes Associated with Sudden Death

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

Deadline for manuscript submissions: closed (20 March 2024) | Viewed by 5871

Special Issue Editor

Dr. Oscar Campuzano

E-Mail Website
Guest Editor
Medical Science Department, School of Medicine, University of Girona, 17003 Girona, Spain
Interests: genetics; inherited arrhythmias; molecular autopsy; cardiomyopathies; sudden cardiac death

Special Issue Information

Dear Colleagues,

Use of high-throughput genetic tools for massively parallel sequencing has revolutionized genetic diagnostic of inherited arrhythmogenic syndromes. The identification of deleterious alterations in families affected by an inherited disease associated with sudden cardiac death is crucial for diagnosis of clinically affected but also for the early identification of relatives carrying the genetic alteration and, therefore, at risk for lethal arrhythmia. One of the main current challenges is data analysis and its genotype–phenotype interpretation in order to perform a useful clinical translation. Original studies as well as reviews and case reports will help to unravel genetic basis, improving clinical diagnosis, genetic counselling, and adoption of preventive therapeutic measures in inherited arrhythmogenic syndromes associated with sudden cardiac death.

Dr. Oscar Campuzano
Guest Editor

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

  • genetic diagnostic
  • next generation sequencing
  • channelopathies
  • cardiomyopathies
  • Inherited arrhythmogenic syndromes
  • molecular autopsy
  • sudden cardiac death

Published Papers (3 papers)

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Editorial

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2 pages, 186 KiB  
Editorial
Inherited Arrhythmogenic Syndromes
by Georgia Sarquella-Brugada and Oscar Campuzano
Cardiogenetics 2023, 13(4), 173-174; https://doi.org/10.3390/cardiogenetics13040016 - 04 Dec 2023
Viewed by 772
Abstract
Inherited arrhythmogenic syndromes (IASs) are a heterogeneous group of rare cardiac entities of genetic origin [...] Full article
(This article belongs to the Special Issue Genetics of Inherited Arrhythmogenic Syndromes Associated with Sudden Death)
2 pages, 171 KiB  
Editorial
A Crossroads Junction That Leads to Heart Failure (Arrhythmogenic Cardiomyopathy): Hope for Future Therapeutics
by Kadiam C. Venkata Subbaiah
Cardiogenetics 2023, 13(1), 31-32; https://doi.org/10.3390/cardiogenetics13010004 - 17 Feb 2023
Viewed by 1743
Abstract
Arrhythmogenic cardiomyopathy (ACM) is an inherited multifaceted cardiac disease that causes sudden cardiac death, especially in young adults and athletes [...] Full article
(This article belongs to the Special Issue Genetics of Inherited Arrhythmogenic Syndromes Associated with Sudden Death)

Review

Jump to: Editorial

14 pages, 295 KiB  
Review
Brugada Syndrome within Asian Populations: State-of-the-Art Review
by Muzamil Khawaja, Yusuf Kamran Qadeer, Rehma Siddiqui, Mihail G. Chelu, Noppawit Aiumtrakul, June K. Pickett, Ramon Brugada, Josep Brugada, Pedro Brugada and Chayakrit Krittanawong
Cardiogenetics 2023, 13(2), 61-74; https://doi.org/10.3390/cardiogenetics13020007 - 26 Apr 2023
Viewed by 2720
Abstract
Brugada syndrome (BrS) is an inherited cardiac channelopathy with variable expressivity that can lead to sudden cardiac arrest (SCA). Studies worldwide suggest that BrS and Brugada pattern (BrP) have low prevalences in general. However, studies also note that BrS is most prevalent among [...] Read more.
Brugada syndrome (BrS) is an inherited cardiac channelopathy with variable expressivity that can lead to sudden cardiac arrest (SCA). Studies worldwide suggest that BrS and Brugada pattern (BrP) have low prevalences in general. However, studies also note that BrS is most prevalent among certain Asian populations. Among the different global regions, the highest prevalence is believed to be in Southeast Asia, followed by the Middle East, South Asia, East Asia, Europe, and North America. It is not only important to recognize such varying degrees of BrS prevalence within Asia but also to understand that there may be significant differences in terms of presenting symptoms, occult risk factors, and the impact on clinical outcomes. The importance of identifying such differences lies in the necessity to develop improved risk assessment strategies to guide secondary prevention and treatment for these patients. Specifically, the decision to pursue placement of an implantable cardiac defibrillator (ICD) can be lifesaving for high-risk BrS patients. However, there remains a significant lack of consensus on how to best risk stratify BrS patients. While the current guidelines recommend ICD implantation in patients with spontaneous Type 1 ECG pattern BrS who present with syncope, there may still exist additional clinical factors that may serve as better predictors or facilitate more refined risk stratification before malignant arrhythmias occur. This carries huge relevance given that BrS patients often do not have any preceding symptoms prior to SCA. This review seeks to delineate the differences in BrS presentation and prevalence within the Asian continent in the hope of identifying potential risk factors to guide better prognostication and management of BrS patients in the future. Full article
(This article belongs to the Special Issue Genetics of Inherited Arrhythmogenic Syndromes Associated with Sudden Death)
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