Sudden Death in the Young

Werf, Christian van der; Langen, Irene M. van; Wilde, Arthur A.M.

doi:10.1161/circep.109.877142

Cited by 75 publications

(23 citation statements)

References 75 publications

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“…Therefore, genetic counselling of family members should be based on a multidisciplinary approach involving forensic pathologists, geneticists and cardiologists to provide the family an opportunity to be informed in case of positive findings and offering them further clinical evaluation. Nowadays, minor preventive measures such as lifestyle modifications, prophylaxis, drug therapy, and implantable defibrillators are available in most cardiac diseases preventing another tragedy within the family [2]. In this study, genetic counselling of first-degree relatives was performed in two of the cases with potential disease-causing variants (case III and case V), whereas the relatives of the other three cases were not available for counselling.…”

Section: Discussionmentioning

confidence: 99%

“…Depending on the underlying cause of death, SD can be divided into sudden cardiac death (SCD) or sudden death due to non-cardiac causes such as pulmonary embolism, metabolic, neurological or infectious conditions [1,2]. In elderly persons, SCD is mainly caused by coronary artery disease (CAD), whereas in young people (between 1 to 39 years of age), a complete post-mortem examination fails to reveal a cause of death in up to 30% of all cases [3,4].…”

Section: Introductionmentioning

confidence: 99%

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Post-mortem whole-exome sequencing (WES) with a focus on cardiac disease-associated genes in five young sudden unexplained death (SUD) cases

et al. 2016

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Sudden death of healthy young adults in the absence of any medical reason is generally categorised as autopsy-negative sudden unexplained death (SUD). Approximately 30 % of all SUD cases can be explained by lethal sequence variants in cardiac genes causing disturbed ion channel functions (channelopathies) or minimal structural heart abnormalities (cardiomyopathies). The aim of this study was to perform whole-exome sequencing (WES) in five young SUD cases in order to identify potentially diseasecausing mutations with a focus on 184 genes associated with cardiac diseases or sudden death. WES analysis enabled the identification of damaging-predicted cardiac sequence alterations in three out of five SUD cases. Two SUD victims carried disease-causing variants in long QT syndrome (LQTS)-associated genes (KCNH2, SCN5A). In a third case, WES identified variants in two genes involved in mitral valve prolapse and thoracic aortic aneurism (DCHS1, TGF2). The genome of a fourth case carried several minor variants involved in arrhythmia pointing to a multigene influence that might have contributed to sudden death. Our results confirm that post-mortem genetic testing in SUD cases in addition to the conventional autopsy can help to identify familial cardiac diseases and can contribute to the identification of genetic risk factors for sudden death.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Post-mortem whole-exome sequencing (WES) with a focus on cardiac disease-associated genes in five young sudden unexplained death (SUD) cases

et al. 2016

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“…1 Inherited cardiac disease, in particular cardiomyopathies, primary arrhythmia syndromes and premature coronary artery disease, underlie at least half of such sudden cardiac death (SCD) cases. 2 Consequently, the relatives of young SCD victims are at increased risk of cardiovascular disease compared with the general population, possibly predisposing them to SCD. 3 This is particularly true for young relatives.…”

Section: Introductionmentioning

confidence: 99%

“…2,4 Thus, a well performed autopsy, including storing DNA samples, is strongly recommended in these cases. [5][6][7] If a possibly inherited cardiac disease is identified in the victim, the Heart Rhythm Society/European Heart Rhythm Association guidelines recommend that first-degree relatives be evaluated for the presence of that same condition.…”

Section: Introductionmentioning

confidence: 99%

Experiences, considerations and emotions relating to cardiogenetic evaluation in relatives of young sudden cardiac death victims

et al. 2013

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Relatives of young sudden cardiac death (SCD) victims are at increased risk of carrying a potentially fatal inherited cardiac disease. Hence, it is recommended to perform an autopsy on the victim and to refer his or her relatives to a cardiogenetics clinic for a full evaluation to identify those at risk and allow preventive measures to be taken. However, at present, the number of families attending a cardiogenetics clinic after the SCD of a young relative is low in the Netherlands. We performed a qualitative study and report on the experiences and attitudes of first-degree relatives who attended a cardiogenetics clinic for evaluation. In total, we interviewed nine first-degree relatives and one spouse of seven SCD victims about their experiences, considerations and emotions before attendance and at the first stage of the cardiogenetic evaluation before DNA results were available. Interviews were transcribed verbatim and analysed. Medical professionals did not have an important role in informing or referring relatives to a cardiogenetics clinic. Importantly, all participants indicated that they would have appreciated a more directive approach from medical professionals, because their mourning process hampered their own search for information and decision-making. A need to understand the cause of death and wanting to prevent another SCD event occurring in the family were the most important reasons for attending a clinic. There are possibilities to improve the information process and better support their decision-making. The multidisciplinary cardiogenetic evaluation was appreciated, but could be improved by minor changes in the way it is implemented.

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“…This team deals with survivors of cardiac arrest, their family members when an inherited cause is identified, and the less fortunate families when sudden death occurs without overt heart disease and families are sent for screening. [3][4][5][6] This is often referred to as cascade family screening. 4,7 It should be recognized, however, that even when each of the known causes of cardiac arrest without overt heart disease has been systematically excluded with in-depth testing, nearly half of the causes of cardiac arrest in these patients will remain unexplained.…”

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confidence: 99%