Cardiomyopathies—Misdiagnosed as Sudden Infant Death Syndrome (SIDS)

Dettmeyer, R.; Kandolf, Reinhard

doi:10.1016/j.forsciint.2009.10.010

Cited by 20 publications

(8 citation statements)

References 36 publications

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“…Establishing a diagnosis may prevent future cardiac events with the assistance of expert counseling, appropriate lifestyle adjustment, and pharmacological treatment, if available. Recently, Dettmyer and Kandolf suggested that some cases of primary arrythmogenic disorders were misdiagnosed as SIDS [14], and Klintschar reported on the clinical consequences for family members resulting from a medicolegal autopsy in a case of sudden death due to an aortic rupture resulting from Marfan syndrome [15]. Despite the recommendations for and advantages of molecular autopsy, only a few research centers are currently performing it in standard forensic practice.…”

Section: Introductionmentioning

confidence: 99%

Genetic analysis of sudden cardiac death victims: a survey of current forensic autopsy practices

2010

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Autopsy-negative sudden cardiac deaths (SCD) seen in forensic practice are most often thought to be the result of sudden arrhythmic death syndrome. Postmortem genetic analysis is recommended in such cases, but is currently performed in only a few academic centers. In order to determine actual current practice, an on-line questionnaire was sent by e-mail to members of various forensic medical associations. The questions addressed routine procedures employed in cases of sudden cardiac death (autopsy ordering, macroscopic and microscopic cardiac examination, conduction tissue examination, immunohistochemistry and electron microscopy, biochemical markers, sampling and storage of material for genetic analyses, toxicological analyses, and molecular autopsy). Some questions concerned the legal and ethical aspects of genetic analyses in postmortem examinations, as well as any existing multidisciplinary collaborations in SCD cases. There were 97 respondents, mostly from European countries. Genetic testing in cases of sudden cardiac death is rarely practiced in routine forensic investigation. Approximately 60% of respondents reported not having the means to perform genetic postmortem testing and 40% do not collect adequate material to perform these investigations at a later date, despite working at university hospitals. The survey demonstrated that many of the problems involved in the adequate investigation of SCD cases are often financial in origin, due to the fact that activities in forensic medicine are often paid by and dependent on the judicial authorities. Problems also exist concerning the contact with family members and/or the family doctor, as well as the often-nonexistent collaboration with others clinicians with special expertise beneficial in the investigation of SCD cases, such as cardiologists and geneticists. This study highlights the importance in establishing guidelines for molecular autopsies in forensic medicine.

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Section: Introductionmentioning

confidence: 99%

Genetic analysis of sudden cardiac death victims: a survey of current forensic autopsy practices

2010

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“…Post-mortem genetic analysis may help to identify the cause of deaths due to an arrhythmogenic cardiac disease but also allow the identification of relatives who carry the same inherited genetic disorder and, consequently, are at risk of SCD [ 3 ]. All relatives of a SD victim with a no conclusive cause of death may undergo a clinical assessment by a multidisciplinary team including cardiologists, forensic pathologists and geneticists because unraveling the cause of death is extremely complicated, mainly when the victim is an infant [ 43 , 44 ]. Therefore, as genetic analysis is nowadays widely accepted as a diagnostic tool, current guidelines recommend performing the molecular autopsy as part of the comprehensive medico-legal investigation in SD cases without conclusive cause of death, especially in pediatric population [ 45 , 46 ].…”

Section: Molecular Autopsymentioning

confidence: 99%

Electrocardiographic Assessment and Genetic Analysis in Neonates: a Current Topic of Discussion

Sarquella‐Brugada

César

Zambrano

et al. 2018

CCR

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Recent technological advances enable a comprehensive genetic screening of a large number of genes in a cost-effective way. However, the interpretation of genetic data and its translation into clinical practice are the main challenge for cardiologists and geneticists. However, there is important controversy as to the clinical value, and cost effectiveness of the use of electrocardiogram as well as of genetic testing to detect these cases. Our review focuses on these current matters of argue.

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“…In addition, there may be early phases of genetically determined cardiomyopathies that cannot be identified macroscopically by autopsy, but add to the vulnerability of the infant and contribute to SIDS, as recently reported for hypertrophic cardiomyopathy (HCM) and HCM-associated genes [168, 178]. Disruption of sarcomeric activity might in turn disrupt intracellular calcium homeostasis and thus be responsible for arrhythmogenesis [178].…”

Section: Primary Electrical Cardiac Diseasesmentioning

confidence: 99%

Cardiac Ion Channelopathies and the Sudden Infant Death Syndrome

Wilders

2012

ISRN Cardiology

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The sudden infant death syndrome (SIDS) causes the sudden death of an apparently healthy infant, which remains unexplained despite a thorough investigation, including the performance of a complete autopsy. The triple risk model for the pathogenesis of SIDS points to the coincidence of a vulnerable infant, a critical developmental period, and an exogenous stressor. Primary electrical diseases of the heart, which may cause lethal arrhythmias as a result of dysfunctioning cardiac ion channels (“cardiac ion channelopathies”) and are not detectable during a standard postmortem examination, may create the vulnerable infant and thus contribute to SIDS. Evidence comes from clinical correlations between the long QT syndrome and SIDS as well as genetic analyses in cohorts of SIDS victims (“molecular autopsy”), which have revealed a large number of mutations in ion channel-related genes linked to inheritable arrhythmogenic syndromes, in particular the long QT syndrome, the short QT syndrome, the Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia. Combining data from population-based cohort studies, it can be concluded that at least one out of five SIDS victims carries a mutation in a cardiac ion channel-related gene and that the majority of these mutations are of a known malignant phenotype.

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Cardiomyopathies—Misdiagnosed as Sudden Infant Death Syndrome (SIDS)

Cited by 20 publications

References 36 publications

Genetic analysis of sudden cardiac death victims: a survey of current forensic autopsy practices

Genetic analysis of sudden cardiac death victims: a survey of current forensic autopsy practices

Electrocardiographic Assessment and Genetic Analysis in Neonates: a Current Topic of Discussion

Cardiac Ion Channelopathies and the Sudden Infant Death Syndrome

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