Inherited Arrhythmogenic Syndromes
1
Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de Déu, 08950 Esplugues de Llobregat, Spain
2
Arrítmies Pediàtriques, Cardiologia Genètica i Mort Sobtada, Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de Déu, 08950 Esplugues de Llobregat, Spain
3
Department of Surgery and Medico-Surgical Specialties, School of Medicine and Health Sciences, Universitat de Barcelona, 08007 Barcelona, Spain
4
Medical Science Department, School of Medicine, Universitat de Girona, 17003 Girona, Spain
5
Centro de Investigación Biomédica en Red, Enfermedades Cardiovasculares (CIBERCV), 28029 Madrid, Spain
6
Institut d’Investigació Biomèdiques de Girona (IDIBGI), 17190 Salt, Spain
*
Author to whom correspondence should be addressed.
Cardiogenetics 2023, 13(4), 173-174; https://doi.org/10.3390/cardiogenetics13040016
Submission received: 13 September 2023
/
Accepted: 28 November 2023
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Published: 4 December 2023
(This article belongs to the Special Issue Genetics of Inherited Arrhythmogenic Syndromes Associated with Sudden Death)
Inherited arrhythmogenic syndromes (IASs) are a heterogeneous group of rare cardiac entities of genetic origin [1]. IASs usually lead to malignant arrhythmias, syncope and sudden cardiac death (SCD) [2]. A lethal episode could be the first manifestation of an IAS, so early identification and adoption of therapeutic measures are essential to reduce the risk of malignant arrhythmias and SCD [3]. Incomplete penetrance and variable expressivity are hallmarks of IAS; therefore diagnosis, risk stratification and adoption of therapeutic measures must be carried out in a personalized approach [4]. Risk stratification, especially in asymptomatic patients, continues to be one of the greatest clinical challenges today. Due to the improvement in genetic analysis in recent years, genetic testing has been included as part of global diagnosis, helping to unravel the origin of diseases but also facilitating the early identification of relatives who harbour the genetic alteration. In cases of unexplained deceases following a complete autopsy, especially in the young population, it is recommended to perform a post-mortem genetic analysis (molecular autopsy) and family segregation [5]. This early identification is especially important in asymptomatic family members who may harbor a deleterious disorder, which poses a risk of malignant episodes [6]. In order to incorporate genetic information into the diagnosis, an exhaustive and conclusive interpretation is crucial [7]. However, a suitable interpretation of genetic data represents another significant challenge for clinicians. Given the complexity of IAS, a multidisciplinary approach is necessary in specialized centers that include a team of cardiologists, pediatricians, geneticists, genetic counselors and even psychologists, in order to provide personalized attention to the whole family. This multidisciplinary strategy is increasingly recommended in order to adopt measures to prevent and treat SCD [8]. In this Special Issue dedicated to IAS, different studies focused on diagnosis, prevention and treatment, as well as the genetic bases and pathophysiological mechanisms involved in these arrhythmogenic pathologies, are included.
Author Contributions
G.S.-B. and O.C. drafted and critically revised the manuscript. All authors have read and agreed to the published version of the manuscript.
Funding
This research received no external funding.
Data Availability Statement
Not applicable.
Acknowledgments
CIBERCV is an initiative of the ISCIII (Carlos III Health Institute), Ministry of Economy and Competitiveness of Spain.
Conflicts of Interest
The authors declare no conflict of interest.
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MDPI and ACS Style
Sarquella-Brugada, G.; Campuzano, O. Inherited Arrhythmogenic Syndromes. Cardiogenetics 2023, 13, 173-174. https://doi.org/10.3390/cardiogenetics13040016
AMA Style
Sarquella-Brugada G, Campuzano O. Inherited Arrhythmogenic Syndromes. Cardiogenetics. 2023; 13(4):173-174. https://doi.org/10.3390/cardiogenetics13040016
Chicago/Turabian StyleSarquella-Brugada, Georgia, and Oscar Campuzano. 2023. "Inherited Arrhythmogenic Syndromes" Cardiogenetics 13, no. 4: 173-174. https://doi.org/10.3390/cardiogenetics13040016
