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Sudden cardiac death with autopsy findings of uncertain significance: Potential for erroneous interpretation

机译:猝死与尸检结果不确定意义:错误解释的可能性

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Background-The sudden death of young individuals is commonly attributed to inherited cardiac disorders, and familial evaluation is advocated. The identification of pathognomonic histopathologic findings, or the absence of cardiac pathology (sudden arrhythmic death syndrome [SADS]) at postmortem, directs familial evaluation targeting structural disorders or primary arrhythmogenic syndromes, respectively. In a proportion of autopsies, structural abnormalities of uncertain significance are reported. We explored the hypothesis that such sudden cardiac deaths represent SADS. Methods and Results-Families (n=340) of index cases of sudden cardiac deaths who underwent postmortem evaluation were evaluated in specialist cardiogenetics clinics. Families in whom the deceased exhibited structural abnormalities of uncertain significance (n=41), such as ventricular hypertrophy, myocardial fibrosis, and minor coronary artery disease, were included in the study. Results were compared with 163 families with normal postmortem (SADS). Relatives underwent comprehensive cardiac evaluation. Twenty-one families (51%) with autopsy findings of uncertain significance received a diagnosis based on the identification of an inherited cardiac condition phenotype in ≥1 relatives: 14 Brugada syndrome; 4 long-QT syndrome; 1 catecholaminergic polymorphic ventricular tachycardia; and 2 cardiomyopathy. A similar proportion of families (47.2%) received a diagnosis in the SADS cohort (P=0.727). An arrhythmogenic syndrome was the predominant diagnosis in both cohorts (46% versus 45%; P=0.863). Conclusions-Familial evaluation after sudden cardiac deaths with autopsy findings of uncertain significance identified a similar proportion of primary arrhythmogenic syndromes to a contemporary series of SADS. Our study highlights the need for accurate interpretation of autopsy findings to avoid erroneous diagnoses, with potentially devastating implications.
机译:背景-年轻人的突然死亡通常归因于遗传性心脏病,并提倡家族评估。死后鉴定病理组织学病理结果或没有心脏病理(突然心律失常性死亡综合征[SADS]),分别指导针对结构性疾病或原发性心律失常综合征的家族评估。在一定比例的尸检中,报告了不确定意义的结构异常。我们探讨了这样的假说,即心脏猝死代表SADS。方法和结果-在专门的心脏遗传学诊所评估了进行死后评估的心脏猝死指数病例的家庭(n = 340)。死者的家庭表现出不确定的结构异常(n = 41),例如心室肥大,心肌纤维化和轻度冠状动脉疾病。将结果与163名死后正常(SADS)的家庭进行了比较。亲属接受了全面的心脏评估。尸检结果不确定的二十一个家庭(51%)基于对≥1个亲戚的遗传性心脏病条件表型的鉴定得到了诊断:14个Brugada综合征。 4长QT综合征; 1儿茶酚胺能性多形性室性心动过速;和2心肌病。在SADS队列中,有类似比例的家庭(47.2%)被诊断出患病率(P = 0.727)。在这两个队列中,主要诊断为心律失常综合症(46%比45%; P = 0.863)。结论:心脏猝死后的家族评估和具有不确定意义的尸检发现确定了与现代SADS系列类似的原发性心律失常综合征。我们的研究突出了对尸检结果进行准确解释的必要性,以避免错误的诊断,从而可能造成毁灭性的后果。

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