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Genetic Variants as Sudden-Death Risk Markers in Inherited Arrhythmogenic Syndromes: Personalized Genetic Interpretation

1
Cardiovascular Genetics Center, University of Girona-IDIBGI, 17190 Girona, Spain
2
Centro de Investigación Biomédica en Red. Enfermedades Cardiovasculares (CIBERCV), 28029 Madrid, Spain
3
Medical Science Department, School of Medicine, University of Girona, 17003 Girona, Spain
4
Arrhythmias Unit, Hospital Sant Joan de Déu, University of Barcelona, 08950 Barcelona, Spain
5
Arrhythmias Unit, Hospital Clinic, University of Barcelona-IDIBAPS, 08036 Barcelona, Spain
6
Medicine Department, School of Medicine, 11003 Cadiz, Spain
7
Cardiology Service, Hospital Josep Trueta, University of Girona, 17007 Girona, Spain
*
Authors to whom correspondence should be addressed.
J. Clin. Med. 2020, 9(6), 1866; https://doi.org/10.3390/jcm9061866
Received: 11 May 2020 / Revised: 9 June 2020 / Accepted: 10 June 2020 / Published: 15 June 2020
Inherited arrhythmogenic syndromes are the primary cause of unexpected lethal cardiac episodes in young people. It is possible that the first sign of the condition may be sudden death. Inherited arrhythmogenic syndromes are caused by genetic defects that may be analyzed using different technical approaches. A genetic alteration may be used as a marker of risk for families who carry the genetic alterations. Therefore, the early identification of the responsible genetic defect may help the adoption of preventive therapeutic measures focused on reducing the risk of lethal arrhythmias. Here, we describe the use of massive sequencing technologies and the interpretation of genetic analyses in inherited arrhythmogenic syndromes. View Full-Text
Keywords: sudden cardiac death; arrhythmias; next-generation sequencing; genetic diagnosis sudden cardiac death; arrhythmias; next-generation sequencing; genetic diagnosis
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MDPI and ACS Style

Campuzano, O.; Sarquella-Brugada, G.; Arbelo, E.; Cesar, S.; Jordà, P.; Pérez-Serra, A.; Toro, R.; Brugada, J.; Brugada, R. Genetic Variants as Sudden-Death Risk Markers in Inherited Arrhythmogenic Syndromes: Personalized Genetic Interpretation. J. Clin. Med. 2020, 9, 1866.

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