Sudden infant death syndrome caused by cardiac arrhythmias: only a matter of genes encoding ion channels?

Sarquella-Brugada, Geòrgia; Campuzano, Òscar; César, Sergi; Iglesias, Anna; Fernández, Anna; Brugada, Josép; Brugada, Ramón

doi:10.1007/s00414-016-1330-7

Cited by 33 publications

(23 citation statements)

References 64 publications

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“…In addition, pathogenic variations in genes encoding structural proteins are responsible for cardiomyopathies (Hypertrophic Cardiomyopathy (HCM), Dilated Cardiomyopathy (DCM), and Arrhythmogenic Cardiomyopathy (AC), among others). These cardiomyopathies will usually present anatomo-morphological changes in the cardiac tissue, which can be diagnosed at autopsy [13], but recent reports have suggested that in infants they could also be potentially responsible for sudden death in the structurally normal heart [14, 15]. …”

Section: Introductionmentioning

confidence: 99%

Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation

et al. 2016

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BackgroundSudden unexplained death may be the first manifestation of an unknown inherited cardiac disease. Current genetic technologies may enable the unraveling of an etiology and the identification of relatives at risk. The aim of our study was to define the etiology of natural deaths, younger than 50 years of age, and to investigate whether genetic defects associated with cardiac diseases could provide a potential etiology for the unexplained cases.Methods and FindingsOur cohort included a total of 789 consecutive cases (77.19% males) <50 years old (average 38.6±12.2 years old) who died suddenly from non-violent causes. A comprehensive autopsy was performed according to current forensic guidelines. During autopsy a cause of death was identified in most cases (81.1%), mainly due to cardiac alterations (56.87%). In unexplained cases, genetic analysis of the main genes associated with sudden cardiac death was performed using Next Generation Sequencing technology. Genetic analysis was performed in suspected inherited diseases (cardiomyopathy) and in unexplained death, with identification of potentially pathogenic variants in nearly 50% and 40% of samples, respectively.ConclusionsCardiac disease is the most important cause of sudden death, especially after the age of 40. Close to 10% of cases may remain unexplained after a complete autopsy investigation. Molecular autopsy may provide an explanation for a significant part of these unexplained cases. Identification of genetic variations enables genetic counseling and undertaking of preventive measures in relatives at risk.

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Section: Introductionmentioning

confidence: 99%

Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation

et al. 2016

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“…To date, many genes and variants have been identified as candidates for molecular autopsies as reviewed by various authors. [38][39][40] Some studies have targeted specific mutations in candidate genes, sometimes on a case-by-case basis, while other studies have screened cohorts for these mutations (►Table 1). In comparison, and more recently, a next generation sequencing approach has been used to identify new mutations which could underlie and perhaps explain sudden unexpected death cases.…”

Section: Discussionmentioning

confidence: 99%

A Systematic Review of Molecular Autopsy Studies in Sudden Infant Death Cases

2018

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Sudden unexpected death is an upsetting event, which can remain unexplained even after post-mortem investigation. Internationally, molecular autopsies have shown to resolve up to 44% of unexplained cases; however, it is currently unclear how many of these were infants. This systematic literature review showed that significantly fewer infant cases were resolved (median: 4%) compared with cohorts of 1 to 45 years old (median: 32%). Further, no study involving indigenous African participants has yet been published. Overall, molecular autopsies hold immense value to living family members and is motivation to explore new avenues in infant cohorts.

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“…The electrical disturbance prior to malignant arrhythmia could be induced by these ultra-structural alterations. Hence, negative autopsy of infant and young population carrying alterations in genes encoding cardiomyopathies should not be discarding without a comprehensive analysis [18].…”

Section: Cardiomyopathiesmentioning

confidence: 99%

Negative Autopsy in Infant and Juvenile Population: Role of Cardiac Arrhythmias

Sarquella‐Brugada¹,

César²,

Fernández-Falgueras³

et al. 2018

Post Mortem Examination and Autopsy - Current Issues From Death to Laboratory Analysis

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Negative autopsy is a post-mortem examination in which a comprehensive analysis does not provide a cause of death. These include situation of death, anatomical and histological analysis, toxicology and microbiological study. A low part of autopsies remain without a conclusive cause of death, but all these cases are usually seen in young population, apparently healthy who died suddenly and unexpectedly. In these situations a cardiac arrhythmia is suspected as cause of death and genetic testing is recommended despite not regularly performed. Sudden death is a natural and unexpected decease that occurs in apparently healthy people, or whose disease was not severe enough to expect a fatal outcome. It can be due to several pathologies, usually of cardiac cause and called sudden cardiac death. In infants and young people, both long QT syndrome and catecholaminergic polymorphic ventricular tachycardia are main causes in negative autopsies. These genetic diseases lead to ventricular ibrillation, syncope and sudden cardiac death in a normal heart. Unfortunately, sudden cardiac death could be the irst manifestation of the diseases, being early identiication and prevention a crucial point in current medical practice. This chapter focuses on sudden death and negative autopsy in young population, mainly due to cardiac arrhythmias.

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Sudden infant death syndrome caused by cardiac arrhythmias: only a matter of genes encoding ion channels?

Cited by 33 publications

References 64 publications

Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation

Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation

A Systematic Review of Molecular Autopsy Studies in Sudden Infant Death Cases

Negative Autopsy in Infant and Juvenile Population: Role of Cardiac Arrhythmias

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