A review of the causes and risk factors for sudden unexpected death in the young

Vandayar, Yuvika; Heathfield, Laura Jane

doi:10.1007/s12024-021-00444-3

Cited by 3 publications

(2 citation statements)

References 79 publications

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“…Variants in non-coding regions such as intronic regions, UTR or in regions that code for microRNAs can modulate or play a key role in IAS (27). Concerning non-genetic factors, we find the patient's age, sex, ethnicity, the presence of other comorbidities and exogenous factors such as fever or taking certain drugs (28,29).…”

Section: Inherited Arrhythmogenic Syndromesmentioning

confidence: 84%

Molecular autopsy: Twenty years of post-mortem diagnosis in sudden cardiac death

et al. 2023

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In the forensic medicine field, molecular autopsy is the post-mortem genetic analysis performed to attempt to unravel the cause of decease in cases remaining unexplained after a comprehensive forensic autopsy. This negative autopsy, classified as negative or non-conclusive, usually occurs in young population. In these cases, in which the cause of death is unascertained after a thorough autopsy, an underlying inherited arrhythmogenic syndrome is the main suspected cause of death. Next-generation sequencing allows a rapid and cost-effectives genetic analysis, identifying a rare variant classified as potentially pathogenic in up to 25% of sudden death cases in young population. The first symptom of an inherited arrhythmogenic disease may be a malignant arrhythmia, and even sudden death. Early identification of a pathogenic genetic alteration associated with an inherited arrhythmogenic syndrome may help to adopt preventive personalized measures to reduce risk of malignant arrhythmias and sudden death in the victim’s relatives, at risk despite being asymptomatic. The current main challenge is a proper genetic interpretation of variants identified and useful clinical translation. The implications of this personalized translational medicine are multifaceted, requiring the dedication of a specialized team, including forensic scientists, pathologists, cardiologists, pediatric cardiologists, and geneticists.

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Section: Inherited Arrhythmogenic Syndromesmentioning

confidence: 84%

Molecular autopsy: Twenty years of post-mortem diagnosis in sudden cardiac death

et al. 2023

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“…In nearly 40% of cases SUDY cases less than 18 years old, no structural alterations are identified [ 2 ]. SUDY cohort did not include cases less than 1 year of age died suddenly, [ 3 ], named sudden infant death syndrome (SIDS). Lethal episode in SIDS is considered multifactorial and the pathophysiological mechanism underlying the death is still unknown in large part of cases [ 4 ].…”

Section: Introductionmentioning

confidence: 99%

Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort

et al. 2023

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Sudden death cases in the young population remain without a conclusive cause of decease in almost 40% of cases. In these situations, cardiac arrhythmia of genetic origin is suspected as the most plausible cause of death. Molecular autopsy may reveal a genetic defect in up to 20% of families. Most than 80% of rare variants remain classified with an ambiguous role, impeding a useful clinical translation. Our aim was to update rare variants originally classified as of unknown significance to clarify their role. Our cohort included fifty-one post-mortem samples of young cases who died suddenly and without a definite cause of death. Five years ago, molecular autopsy identified at least one rare genetic alteration classified then as ambiguous following the American College of Medical Genetics and Genomics’ recommendations. We have reclassified the same rare variants including novel data. About 10% of ambiguous variants change to benign/likely benign mainly because of improved population frequencies. Excluding cases who died before one year of age, almost 21% of rare ambiguous variants change to benign/likely benign. This fact makes it important to discard these rare variants as a cause of sudden unexplained death, avoiding anxiety in relatives’ carriers. Twenty-five percent of the remaining variants show a tendency to suspicious deleterious role, highlighting clinical follow-up of carriers. Periodical reclassification of rare variants originally classified as ambiguous is crucial, at least updating frequencies every 5 years. This action aids to increase accuracy to enable and conclude a cause of death as well as translation into the clinic.

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Experiences and needs of family members following sudden cardiac death: A meta-synthesis

Zhang,

Liu,

Chen

et al. 2024

International Journal of Nursing Studies

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A review of the causes and risk factors for sudden unexpected death in the young

Cited by 3 publications

References 79 publications

Molecular autopsy: Twenty years of post-mortem diagnosis in sudden cardiac death

Molecular autopsy: Twenty years of post-mortem diagnosis in sudden cardiac death

Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort

Experiences and needs of family members following sudden cardiac death: A meta-synthesis

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