Family Screening After Sudden Death in a Population-Based Study of Children.
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ABSTRACT:
SUBMITTER: Kannankeril PJ
PROVIDER: S-EPMC9153292 | biostudies-literature | 2022 Apr
REPOSITORIES: biostudies-literature
Publications
Family Screening After Sudden Death in a Population-Based Study of Children.
Kannankeril Prince J PJ Shoemaker M Ben MB Fountain Darlene D Roden Dan M DM Yandell Mark M Tristani-Firouzi Martin M Etheridge Susan P SP Webster Gregory G George Alfred L AL McNally Elizabeth M EM MacLeod Heather H Burns Kristin M KM
Pediatrics 20220401 4
In a US population-based registry of sudden death in the young, this study performed familial evaluation of surviving relatives. ...[more]
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Project description: Not available
| S-EPMC1860723 | biostudies-literature
Project description:AimsThe epidemiology of sudden cardiac death (SCD) after heart transplantation (HTx) remains imprecisely described. We aimed to assess the incidence and determinants of SCD in a large cohort of HTx recipients, compared with the general population.Methods and resultsConsecutive HTx recipients (n = 1246, 2 centres) transplanted between 2004 and 2016 were included. We prospectively assessed clinical, biological, pathologic, and functional parameters. SCD was centrally adjudicated. We compared the SCD incidence beyond the first year post-transplant in this cohort with that observed in the general population of the same geographic area (registry carried out by the same group of investigators; n = 19 706 SCD). We performed a competing risk multivariate Cox model to identify variables associated with SCD. The annual incidence of SCD was 12.5 per 1,000 person-years [95% confidence interval (CI), 9.7-15.9] in the HTx recipients cohort compared with 0.54 per 1,000 person-years (95% CI, 0.53-0.55) in the general population (P < 0.001). The risk of SCD was markedly elevated among the youngest HTx recipients with standardized mortality ratios for SCD up to 837 for recipients ≤30 years. Beyond the first year, SCD was the leading cause of death. Five variables were independently associated with SCD: older donor age (P = 0.003), younger recipient age (P = 0.001) and ethnicity (P = 0.034), pre-existing donor-specific antibodies (P = 0.009), and last left ventricular ejection fraction (P = 0.048).ConclusionHTx recipients, particularly the youngest, were at very high risk of SCD compared with the general population. The consideration of specific risk factors may help identify high-risk subgroups.
| S-EPMC10198773 | biostudies-literature
Project description:Cardiomyopathy and cardiac conduction defects are common manifestations of mitochondrial disease. Previous studies suggest that clinically asymptomatic individuals harbouring pathogenic mitochondrial DNA (mtDNA) mutations in the cardiac muscle may have sudden cardiac death (SCD) as the first manifestation of mitochondrial disease. We investigated the contribution of pathogenic mtDNA point mutations and mtDNA haplogroups in cardiac muscle in a cohort of 280 Finnish subjects that had died from non-ischaemic SCD with the median age of death at 59 years and in 537 population controls. We did not find any common or novel pathogenic mutations, but the frequency of haplogroup H1 was higher in the SCD subjects than that in 537 population controls (odds ratio: 1.76, confidence interval 95%: 1.02-3.04). We conclude that, at the population level, pathogenic point mutations in mtDNA do not contribute to non-ischaemic SCD, but natural variation may modify the risk.
| S-EPMC6949201 | biostudies-literature
Project description:BackgroundAfter sudden death occurs in the young, first-degree family members should undergo clinical screening for occult cardiac disease, but the diagnostic yield from screening is not well-defined in the United States.ObjectivesThe purpose of this study was to determine the clinical predictors of cardiac diagnosis in children referred for evaluation following a sudden death in the family.MethodsPatients referred for a family history of sudden death were evaluated in a retrospective review from a tertiary pediatric referral center.ResultsAmong 419 pediatric relatives of 256 decedents, 27% of patients were diagnosed with a disease or had a clinical finding of uncertain significance. Patients were diagnosed with heritable cardiac disease in 39 cases (9.3%). Nonheritable cardiac disease was diagnosed in another 5.5% of patients. Clinical findings of uncertain significance were present in 52 patients (12.4%), including abnormal electrophysiological test results (41 of 52) or imaging test results (11 of 52). Among patients diagnosed with a heritable cardiac disease, the nearest affected relative was almost always a first-degree relative (37 of 39, 95%). The strongest predictors for a successful diagnosis in the patient were an abnormal electrocardiogram and a first-degree relationship to the nearest affected relative (odds ratios: 24.2 and 18.8, respectively).ConclusionsChildren referred for a family history of sudden death receive cardiac disease diagnoses (14%), but clinical findings of uncertain significance increase the challenge of clinical management. The importance of a diagnosis in first-degree affected relatives supports the clinical practice of testing intervening family members first when patients are second- or higher-degree relatives to the decedent.
| S-EPMC6690372 | biostudies-literature
Project description: Not available
| S-EPMC1767396 | biostudies-literature
Project description:BackgroundAlthough sudden cardiac death (SCD) is heritable, its genetic underpinnings are poorly characterized. The QT interval appears to have a graded relationship to SCD, and 35% to 45% of its variation is heritable. We examined the relationship among recently reported common genetic variants, QT interval, and SCD.Methods and resultsWe genotyped 15 common (minor allele frequency >1%) candidate single nucleotide polymorphisms (SNPs), based on association with the QT interval in prior studies, in individuals in 2 cohort studies (Health 2000, n = 6597; Mini-Finland, n = 801). After exclusions, we identified 116 incident SCDs from the remaining sample (n = 6808). We constructed a QT genotype score (QT(score)) using the allele copy number and previously reported effect estimates for each SNP. Cox proportional hazards models adjusting for age, sex, and geographical area were used for time to SCD analyses. The QT(score) was a continuous independent predictor of the heart rate-corrected QT interval (P<10(-107)). Comparing the top with the bottom quintile of QT(score), there was a 15.6-ms higher group mean QT interval (P<10(-84)). A 10-ms increase in the observed QT interval was associated with an increased risk of SCD (hazard ratio, 1.19; 95% confidence interval, 1.07 to 1.32; P = 0.002). There was no linear relationship between QT(score) and SCD risk; although in post hoc secondary analysis there was increased risk in the top compared with the middle QT(score) quintile (hazard ratio, 1.92; 95% confidence interval, 1.05 to 3.58; P = 0.04).ConclusionsOur study strongly replicates the relationship between common genetic variants and the QT interval and confirms the relationship between the QT interval and SCD but does not show evidence for a linear relationship between QT(score) and SCD risk.
| S-EPMC3119024 | biostudies-literature
Project description:BackgroundSudden death is a public health problem with major impact on society. Coronary artery disease (CAD) is believed to underlie 60-80% of these deaths. While deaths from CAD have decreased in the recent decades, sudden death rates remain unacceptably high.ObjectiveWe aimed to assess the prevalence of CAD and its risk factors among 18-64-year-old adults in a population-based case registry of sudden deaths and compare them to a living population from the same geographical area.DesignFrom 2013 to 2015, all sudden deaths among 18-64-year-old adults in Wake County, NC, were identified (n = 371). A comparison group was formed by randomly selecting individuals from an electronic health record repository of a major healthcare system in the area (N = 4218).Main measuresPrevalence of CAD and its risk factors among cases of sudden death and living population across sex and age groups. Odds of sudden death associated with atherosclerotic risk factors and comorbidities.Key resultsCAD was present in 14.8% of sudden death cases. Among sudden death victims, most risk factors and comorbidities were more common in the older age group, except for obesity which was more common in younger cases, and diabetes which was equally prevalent in younger and older cases. Compared to living population, sudden death cases had higher prevalence of atherosclerotic risk factors across all gender and age groups. Sudden death cases had a numerically higher number of risk factors compared to living population, regardless of age group or presence of CAD.ConclusionsCoronary artery disease is not common among sudden death cases, but risk factors and comorbidities are prevalent. Our findings support the changing etiology of sudden death. In the absence of clinically diagnosed CAD, use of novel imaging modalities and biomarkers may identify high-risk individuals and lead to prevention of sudden death.
| S-EPMC7018927 | biostudies-literature
Project description:Background and objectivesPediatric sudden cardiac death (SCD) occurs in an estimated 0.8 to 6.2 per 100?000 children annually. Screening for cardiac disorders causing SCD in asymptomatic children has public appeal because of its apparent potential to avert tragedy; however, performance of the electrocardiogram (ECG) as a screening tool is unknown. We estimated (1) phenotypic (ECG- or echocardiogram [ECHO]-based) prevalence of selected pediatric disorders associated with SCD, and (2) sensitivity, specificity, and predictive value of ECG, alone or with ECHO.MethodsWe systematically reviewed literature on hypertrophic cardiomyopathy (HCM), long QT syndrome (LQTS), and Wolff-Parkinson-White syndrome, the 3 most common disorders associated with SCD and detectable by ECG.ResultsWe identified and screened 6954 abstracts, yielding 396 articles, and extracted data from 30. Summary phenotypic prevalences per 100?000 asymptomatic children were 45 (95% confidence interval [CI]: 10-79) for HCM, 7 (95% CI: 0-14) for LQTS, and 136 (95% CI: 55-218) for Wolff-Parkinson-White. The areas under the receiver operating characteristic curves for ECG were 0.91 for detecting HCM and 0.92 for LQTS. The negative predictive value of detecting either HCM or LQTS by using ECG was high; however, the positive predictive value varied by different sensitivity and specificity cut-points and the true prevalence of the conditions.ConclusionsResults provide an evidence base for evaluating pediatric screening for these disorders. ECG, alone or with ECHO, was a sensitive test for mass screening and negative predictive value was high, but positive predictive value and false-positive rates varied.
| S-EPMC3313631 | biostudies-literature
Project description:ObjectiveTo determine whether the prescription of co-trimoxazole with an angiotensin converting enzyme inhibitor or angiotensin receptor blocker is associated with sudden death.DesignPopulation based nested case-control study.SettingOntario, Canada, from 1 April 1994 to 1 January 2012.ParticipantsOntario residents aged 66 years or older treated with an angiotensin converting enzyme inhibitor or angiotensin receptor blocker. Cases were those who died suddenly shortly after receiving an outpatient prescription for one of co-trimoxazole, amoxicillin, ciprofloxacin, norfloxacin, or nitrofurantoin. Each case was matched with up to four controls on age, sex, chronic kidney disease, and diabetes.Main outcome measureOdds ratio for the association between sudden death and exposure to each antibiotic relative to amoxicillin, after adjustment for predictors of sudden death according to a disease risk index.ResultsOf 39,879 sudden deaths, 1027 occurred within seven days of exposure to an antibiotic and were matched to 3733 controls. Relative to amoxicillin, co-trimoxazole was associated with an increased risk of sudden death (adjusted odds ratio 1.38, 95% confidence interval 1.09 to 1.76). The risk was marginally higher at 14 days (adjusted odds ratio 1.54, 1.29 to 1.84). This corresponds to approximately three sudden deaths within 14 days per 1000 co-trimoxazole prescriptions. Ciprofloxacin (a known cause of QT interval prolongation) was also associated with an increased risk of sudden death (adjusted odds ratio 1.29, 1.03 to 1.62), but no such risk was observed with nitrofurantoin or norfloxacin.ConclusionsIn older patients receiving angiotensin converting enzyme inhibitors or angiotensin receptor blockers, co-trimoxazole is associated with an increased risk of sudden death. Unrecognized severe hyperkalemia may underlie this finding. When appropriate, alternative antibiotics should be considered in such patients.
| S-EPMC4214638 | biostudies-literature
Project description:Sudden cardiac death (SCD) is a sudden and unexpected death caused by loss of heart of function. SCD may occur in any population, but when it occurs on the playing field in a young individual, communities worldwide are affected. Although these events are rare, media coverage of sudden cardiac arrests in young athletes have created the impression that these events are far more common than they appear. With a heightened awareness of SCD in young athletes, screening methods have been developed to try and prevent these events from occurring. The American Heart Associations (AHA) currently employs history and physical examination alone during the preparticipation physical exam (PPE), which clears a young athlete for participation in sports. There has been recent discussion on whether to include screening electrocardiogram (ECG) in the PPE especially after one study in Italy by Corrado et al. found that using routine ECG reduced the annual incidence of SCD by 90%. In this article we will discuss how effective the current screening recommendations are, whether routine ECG use should be included in the PPE and if it is cost effective, and review other screening modalities that may be useful in the detection of young athletes at risk for SCD.
| S-EPMC5532197 | biostudies-other