Arrhythmogenic cardiomyopathy with left ventricular involvement versus ischemic heart disease: lessons learned from the family study and the reviewed autopsy of a young male
作者机构：Servicio de PatologíaInstituto de Medicina Legal y Ciencias Forenses de ValenciaValenciaEspana Unidad de Valoración del Riesgo de Muerte Súbita Familiar and Unidad de Cardiopatías FamiliaresMuerte Súbita y Mecanismos de Enfermedad(CaFaMuSMe)Instituto de Investigación Sanitaria La FeValenciaEspana Servicio de CardiologíaHospital Universitario y Politécnico La FeValenciaEspana Unidad GenómicaInstituto de Investigación Sanitaria La FeValenciaEspana
出 版 物：《Forensic Sciences Research》 (法庭科学研究（英文）)
年 卷 期：2019年第4卷第3期
页 面：274-279页
核心收录：
学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学]
基 金：This work was supported by grants from the Ministerio de Economia y Competitividad[grant number DPI2015-70821-R] Instituto de Salud Carlos Ⅲ and FEDER UnionEuropea,Una forma de hacer Europa[grant numbersRD12/0042/0029,PI14/01477 and PI18/01582] La FeBiobank[grant number PT17/0015/0043]
主 题：Forensic sciences forensic pathology ischemic heart disease arrhythmogenic cardiomyopathy family study
摘 要：Ischemic heart disease (IHD) is the leading cause of sudden cardiac death (SCD) and often non-thrombosed severe coronary stenoses with or without myocardial scars are *** dominant arrhythmogenic cardiomyopathy (LDAC) is a life-threating rare disease which has been more thoroughly studied in the last *** macroscopic study of an SCD victim was conducted and re-evaluated 9years *** cardiological work-up in his firstdegree relatives initially comprised an electrocardiogram (ECG) and an *** they were re-evaluted 9years later,a cardiac magnetic resonance,an ECG-monitoring,an exercise testing and a genetic study were performed and the pedigree was extended *** 2008,an IHD was suspected in the sports-triggered SCD of a 37-year-old man upon the postmortem (75% stenosis of the left main and circumflex coronary arteries;the subepicardial left ventricular fibrofatty infiltration with mild myocardial degeneration was assumed to be a past myocardial infarction).No cardiomyopathy was identified in any of the two proband s *** years thereafter,distant relatives were diagnosed with LDAC due to a pathogenic desmoplakin *** reanalysis of the two sisters showed ventricular arrhythmias in one of them without structural heart involvement and the reviewed postmortem of the proband was reclassified as LDAC based on the fibrofatty infiltration;both were mutation *** completion of the family study on 19 family members yielded one SCD due to LDAC (the proband),three living patients diagnosed with LDAC (two with a defibrillator),one mutation carrier without structural ventricular involvement,and 14 healthy relatives (who were discharged) with a very good co-segregation of the *** rare,LDAC exists and sometimes its differential diagnosis with iHD has to be *** previous postmortem misdiagnoses can help family screening to further prevent SCDs.
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