Abstract
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 10 years. The macroscopic study of an SCD victim was conducted and re-evaluated 9 years later. The cardiological work-up in his first-degree relatives initially comprised an electrocardiogram (ECG) and an echocardiogram. When they were re-evaluted 9 years 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.
Highlights
Sudden cardiac death (SCD) is the leading cause of unexpected natural sudden deaths in developed countries [1, 2] accounting worldwide for 4.5 million cases each year [3]
We present a case of SCD due to Left dominant arrhythmogenic cardiomyopathy (LDAC) which was initially misdiagnosed as ischemic heart disease (IHD) almost 1 decade ago, exactly when the LDAC forms were just starting to be recognized in the international literature
These findings were assumed to reflect a past myocardial infarction in an adipositas cordis, since significant coronary stenoses had been clearly identified. His two sisters were offered a cardiological evaluation. They referred that their mother suffered from postpartum dilated cardiomyopathy (DCM) since she was 33 and died at age 54 due to several complications, while their father died at age 60 without any cardiomyopathy
Summary
Sudden cardiac death (SCD) is the leading cause of unexpected natural sudden deaths in developed countries [1, 2] accounting worldwide for 4.5 million cases each year [3]. Ischemic heart disease (IHD) is the most frequent cardiac condition causing SCD [1, 2]. The cause of death can be established as IHD for certain when an acute myocardial infarction is observed at the macroscopic and histological heart examination and with a high probability when only chronic IHD with ischemic scar and/or an atherosclerotic plaque causing at least 75% of lumen reduction are observed [5]. Arrhythmogenic cardiomyopathy (AC) is an inherited rare disease characterized by a progressive myocardial fibrofatty replacement [6]. A growing list of genes is associated with this condition (Table 1). Mutations in the five desmosomal genes (PKP2, DSG2, DSP, DSC2 and JUP) were identified in affected individuals [7–9]. The penetrance can be incomplete and its clinical expressivity variable among mutation carriers [6]. Its clinical diagnosis is not straightforward, instead a set of major and (or) minor criteria
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