Sudden unexplained death in the young: epidemiology, aetiology and value of the clinically guided genetic screening

Anastasakis, Aris; Papatheodorou, Efstathios; Ritsatos, Konstantinos; Protonotarios, Nikos; Rentoumi, Vasiliki; Gatzoulis, Konstantinos; Antoniades, Loizos; Agapitos, Emmanuel; Koutsaftis, Philippos N.; Spiliopoulou, Chara; Tousoulis, Dimitrios

doi:10.1093/europace/euw362

Cited by 34 publications

(22 citation statements)

References 24 publications

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“… 400 Patients that are symptomatic (syncope, cardiac arrest) at the time of presentation are at highest risk, with arrhythmic syncope representing a sentinel sign of risk, and resuscitated cardiac arrest reflecting the highest risk cohort. 97 Despite major social impact on perceived risk, family history is not of major importance in all three diseases.…”

Section: How To Assess Risk For Ventricular Tachyarrhythmia In Specifmentioning

confidence: 99%

European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) expert consensus on risk assessment in cardiac arrhythmias: use the right tool for the right outcome, in the right population

et al. 2020

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Section: How To Assess Risk For Ventricular Tachyarrhythmia In Specifmentioning

confidence: 99%

European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) expert consensus on risk assessment in cardiac arrhythmias: use the right tool for the right outcome, in the right population

et al. 2020

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“…the ‘channelopathies’ are LQTS, Brugada syndrome and CPVT 402 . Patients that are symptomatic (syncope, cardiac arrest) at the time of presentation are at highest risk, with arrhythmic syncope representing a sentinel sign of risk, and resuscitated cardiac arrest reflecting the highest risk cohort 97 . Despite major social impact on perceived risk, family history is not of major importance in all three diseases.…”

Section: How To Assess Risk For Ventricular Tachyarrhythmia In Specifmentioning

confidence: 99%

European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) expert consensus on risk assessment in cardiac arrhythmias: use the right tool for the right outcome, in the right population

Nielsen

Lin

Figueiredo

et al. 2020

Journal of Arrhythmia

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“…In addition to this, molecular genetic testing of targeted genes linked to clinical phenotype has been used to increase the overall diagnostic yield. 3,20,25,[33][34][35]39,40 An important concept termed signal-to-noise ratio refers to the positive predictive value of a genetic variant derived from dividing the prevalence of the variant in confirmed cases by its prevalence in a control population. 41 The positive predictive value is considered high when the signal-to-noise ratio is >10:1.…”

Section: Emerging Role Of Imagingmentioning

confidence: 99%

<p>Spotlight on sudden arrhythmic death syndrome</p>

Yuan¹,

Raju²

2019

RRCC

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Sudden cardiac death (SCD) is defined as death from a cardiac cause within 1 hr of symptom onset or, if unwitnessed, in a person last seen well within 24 hrs. Sudden arrhythmic death syndrome (SADS) describes cases of SCD with no abnormalities found on expert autopsy attributable as the cause of death. The epidemiology of these conditions has been challenging to study as definitions have changed over time; however, it is apparent that the incidence of SCD increases with age whilst SADS decreases as coronary artery disease becomes more prevalent. Accurate reporting of truly negative autopsies of SCDs has been assisted by guidelines from governing bodies such as The Association for European Cardiovascular Pathology, allowing identification of SADS cases. Primary arrhythmic cardiac conditions like ong QT syndrome, Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia are the predominant etiologies of SADS. When the decedent did not have a known phenotype for these conditions, clinical evaluation using screening tests like echocardiogram, resting and stress electrocardiograms and holter monitoring, followed by specialized testing when appropriate such as cardiac magnetic resonance and pharmacological provocation testing of surviving family members becomes crucial in potentially identifying the cause and guide targeted genetic testing. Although advancement in gene analysis such as next-generation sequencing has also allowed the application of "molecular autopsy" to identify pathogenic variants to establish the cause of death and enable cascade testing and risk stratification of family members, many of the genetic variants identified through this method have been classified as non-pathogenic since the establishment of standards and guidelines by the American College of Medical Genetics. Whilst majority of cases of SADS are still unexplained, there is increasing awareness and understanding of this syndrome allowing appropriate identification of surviving family members at risk and implementation of measures to prevent further premature death.

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Sudden unexplained death in the young: epidemiology, aetiology and value of the clinically guided genetic screening

Cited by 34 publications

References 24 publications

European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) expert consensus on risk assessment in cardiac arrhythmias: use the right tool for the right outcome, in the right population

European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) expert consensus on risk assessment in cardiac arrhythmias: use the right tool for the right outcome, in the right population

European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) expert consensus on risk assessment in cardiac arrhythmias: use the right tool for the right outcome, in the right population

<p>Spotlight on sudden arrhythmic death syndrome</p>

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