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- Wisten, Aase, et al.
(författare)
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Mutation analysis of cases of sudden unexplained death, 15 years after death : Prompt genetic evaluation after resuscitation can save future lives
- 2012
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Ingår i: Resuscitation. - : Elsevier BV. - 0300-9572 .- 1873-1570. ; 83:10, s. 1229-1234
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Tidskriftsartikel (refereegranskat)abstract
- Introduction: The aim of this study is to use genetic mutation analysis to determine the cause of sudden unexpected death in young (SUDY) persons with normal autopsy findings, and to provide relatives with an identified cardiac mutation with suitable cardiovascular prevention. Methods: We performed mutation analysis on blood samples from first-degree relatives of 25 cases with normal autopsy findings identified in the national Swedish study of sudden cardiac death in 15- to 35-year-olds from 1992 to 1999. Results: We found three families with long QT syndrome through mutation screening, and the mutations were verified in two of the deceased. Eight family members were found to be mutation carriers and have been provided with suitable cardiovascular prevention. Mutation screening also identified a number of common polymorphisms in the individuals screened. Clinical history revealed one family each with short QT syndrome and hypertrophic cardiomyopathy, respectively, but no mutations were found in the family members or in the deceased. Two SCDs each had occurred in two of the affected families. Conclusion: Cardiac/genetic evaluation of relatives long after SUDY can reveal a diagnosis in 5/25 (20%) of cases. Since DNA extraction of formalin fixed paraffin embedded samples is unreliable, it is important that blood or tissue samples be stored at autopsy of such cases. This can facilitate establishing a diagnosis and thereby save lives in the future. (C) 2012 Elsevier Ireland Ltd. All rights reserved.
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- Östman-Smith, Ingegerd, 1947, et al.
(författare)
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Electrocardiographic amplitudes : a new risk factor for sudden death in hypertrophic cardiomyopathy.
- 2010
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Ingår i: European Heart Journal. - : Oxford University Press. - 0195-668X .- 1522-9645. ; 31:4, s. 439-449
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Tidskriftsartikel (refereegranskat)abstract
- AIMS: Assessment of ECG-features as predictors of sudden death in adults with hypertrophic cardiomyopathy (HCM).METHODS AND RESULTS: ECG-amplitude sums were measured in 44 normals, 34 athletes, a hospital-cohort of 87 HCM-patients, and 29 HCM-patients with sudden death or cardiac arrest (HCM-CA). HCM-patients with sudden death or cardiac arrest had substantially higher ECG-amplitudes than the HCM-cohort for limb-lead and 12-lead QRS-amplitude sums, and amplitude-duration products (P = 0.00003-P = 0.000002). Separation of HCM-CA from the HCM-cohort is obtained by limb-lead QRS-amplitude sum >or=7.7 mV (odds ratio 18.8, sensitivity 87%, negative predictive value (NPV) 94%, P < 0.0001), 12-lead amplitude-duration product >or=2.2 mV s (odds ratio 31.0, sensitivity 92%, NPV 97%, P < 0.0001), and limb-lead amplitude-duration product >or=0.70 mV s (odds ratio 31.5, sensitivity 93%, NPV 96%, P < 0.0001). Sensitivity in HCM-patients <40 years is 90, 100, and 100% for those ECG-variables, respectively. Qualitative analysis showed correlation with cardiac arrest for pathological T-wave-inversion (P = 0.0003), ST-depression (P = 0.0010), and dominant S-wave in V(4) (P = 0.0048). A risk score is proposed; a score >or=6 gives a sensitivity of 85% but a higher positive predictive value than above measures. Optimal separation between HCM-CA <40 years and athletes is obtained by a risk score >or=6 (odds ratio 345, sensitivity 85%, specificity 100%, P < 0.0001).CONCLUSION: Twelve-lead ECG is a powerful instrument for risk-stratification in HCM.
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