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 6457

Special Issue Editor

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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

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

Published Papers (3 papers)

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Jump to: Review

2 pages, 186 KiB  
Inherited Arrhythmogenic Syndromes
by Georgia Sarquella-Brugada and Oscar Campuzano
Cardiogenetics 2023, 13(4), 173-174; - 4 Dec 2023
Viewed by 908
Inherited arrhythmogenic syndromes (IASs) are a heterogeneous group of rare cardiac entities of genetic origin [...] Full article
2 pages, 171 KiB  
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; - 17 Feb 2023
Viewed by 1874
Arrhythmogenic cardiomyopathy (ACM) is an inherited multifaceted cardiac disease that causes sudden cardiac death, especially in young adults and athletes [...] Full article


Jump to: Editorial

14 pages, 295 KiB  
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; - 26 Apr 2023
Viewed by 3027
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
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