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 detected.Left dominant arrhythmogenic cardiomyopat...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 detected.Left dominant arrhythmogenic cardiomyopathy (LDAC) is a life-threating rare disease which has been more thoroughly studied in the last 10years.The macroscopic study of an SCD victim was conducted and re-evaluated 9years later.The cardiological work-up in his firstdegree relatives initially comprised an electrocardiogram (ECG) and an echocardiogram.When 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 accordingly.In 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 sisters.Nine years thereafter,distant relatives were diagnosed with LDAC due to a pathogenic desmoplakin mutation.The 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 carriers.The 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 mutation.Although rare,LDAC exists and sometimes its differential diagnosis with iHD has to be faced.Modifying previous postmortem misdiagnoses can help family screening to further prevent SCDs.展开更多
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].
文摘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 detected.Left dominant arrhythmogenic cardiomyopathy (LDAC) is a life-threating rare disease which has been more thoroughly studied in the last 10years.The macroscopic study of an SCD victim was conducted and re-evaluated 9years later.The cardiological work-up in his firstdegree relatives initially comprised an electrocardiogram (ECG) and an echocardiogram.When 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 accordingly.In 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 sisters.Nine years thereafter,distant relatives were diagnosed with LDAC due to a pathogenic desmoplakin mutation.The 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 carriers.The 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 mutation.Although rare,LDAC exists and sometimes its differential diagnosis with iHD has to be faced.Modifying previous postmortem misdiagnoses can help family screening to further prevent SCDs.
