Sudden cardiac death of Duchenne muscular dystrophy with NT-proBNP in pericardial fluid as a useful biomarker for diagnosis of the cause of death: a case report.

作者: Mengzhou Zhang , Rui Zhao , Tianshui Yu , Jiaoyong Li , Miao Zhang

DOI: 10.1080/20961790.2017.1333249

关键词: AutopsyPathologyDystrophinMuscular dystrophyInternal medicineCardiologyDuchenne muscular dystrophyCause of deathSudden cardiac deathBiomarker (medicine)Pericardial fluidMedicine

摘要: ABSTRACTDuchenne muscular dystrophy (DMD) is one of the most common and severest dystrophies. Although it can be a cause death when associated with cardiac muscle and/or respiratory muscles, no cases sudden deaths in setting undiagnosed DMD involvement have been reported literatures. Previous studies showed that N-terminal-proBNP (NT-proBNP) was robust laboratory biomarker to diagnose monitor failure clinical situations, suggesting may used as an auxiliary indicator for diagnosis on left ventricular dysfunction forensic settings. Here, we case 29-year-old man who died suddenly. Autopsy revealed muscles body were almost replaced by fatty fibrotic tissues. The heart enlarged disarray degeneration cardiomyocytes muscle. Total absence dystrophin detected immunohistochemical staining, which confirmed DMD. Post-mortem biochemical test pericardial...

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