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
Duchenne muscular dystrophy (DMD) is one of the most common and severest muscular dystrophies. Although it can be a cause of death when associated with cardiac muscle and/or respiratory muscles, no cases of sudden deaths in the setting of undiagnosed DMD with cardiac involvement have been reported i...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Oxford University Press
2020-04-01
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| Series: | Forensic Sciences Research |
| Subjects: | |
| Online Access: | http://dx.doi.org/10.1080/20961790.2017.1333249 |
| _version_ | 1797725369899417600 |
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| author | Mengzhou Zhang Rui Zhao Tianshui Yu Jiaoyong Li Miao Zhang Shukun Jiang Linlin Wang Guohua Zhang Rubo Li Baoli Zhu Dawei Guan |
| author_facet | Mengzhou Zhang Rui Zhao Tianshui Yu Jiaoyong Li Miao Zhang Shukun Jiang Linlin Wang Guohua Zhang Rubo Li Baoli Zhu Dawei Guan |
| author_sort | Mengzhou Zhang |
| collection | DOAJ |
| description | Duchenne muscular dystrophy (DMD) is one of the most common and severest muscular dystrophies. Although it can be a cause of death when associated with cardiac muscle and/or respiratory muscles, no cases of sudden deaths in the setting of undiagnosed DMD with cardiac involvement have been reported in the literatures. Previous studies showed that N-terminal-proBNP (NT-proBNP) was a robust laboratory biomarker to diagnose and monitor cardiac failure in clinical situations, suggesting that it may be used as an auxiliary indicator for diagnosis on left ventricular dysfunction in sudden cardiac deaths in forensic settings. Here, we reported a case of 29-year-old man who died suddenly. Autopsy revealed that muscles of the body were almost replaced by fatty and fibrotic tissues. The heart was enlarged with disarray and degeneration of cardiomyocytes in cardiac muscle. Total absence of dystrophin was detected by immunohistochemical staining, which confirmed DMD. Postmortem biochemical test of pericardial fluid revealed a high level of NT-proBNP, indicating dysfunction of the left ventricle before death. The cause of death was certified as an early dilated cardiomyopathy (DCM)/dysfunction of the left ventricle secondary to DMD, suggesting that sudden cardiac death with cardiac dysfunction could be identified by immunohistochemical method in combination with pericardial fluid NT-proBNP determination after systemic autopsy. |
| first_indexed | 2024-03-12T10:30:12Z |
| format | Article |
| id | doaj.art-ece48067a6c643b6b15f910481746ce6 |
| institution | Directory Open Access Journal |
| issn | 2096-1790 2471-1411 |
| language | English |
| last_indexed | 2024-03-12T10:30:12Z |
| publishDate | 2020-04-01 |
| publisher | Oxford University Press |
| record_format | Article |
| series | Forensic Sciences Research |
| spelling | doaj.art-ece48067a6c643b6b15f910481746ce62023-09-02T09:21:26ZengOxford University PressForensic Sciences Research2096-17902471-14112020-04-015216516910.1080/20961790.2017.13332491333249Sudden 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 reportMengzhou Zhang0Rui Zhao1Tianshui Yu2Jiaoyong Li3Miao Zhang4Shukun Jiang5Linlin Wang6Guohua Zhang7Rubo Li8Baoli Zhu9Dawei Guan10China Medical University School of Forensic MedicineChina Medical University School of Forensic MedicineChina University of Political Science and LawChina Medical University School of Forensic MedicineChina Medical University School of Forensic MedicineChina Medical University School of Forensic MedicineChina Medical University School of Forensic MedicineChina Medical University School of Forensic MedicineChina Medical University School of Forensic MedicineChina Medical University School of Forensic MedicineChina Medical University School of Forensic MedicineDuchenne muscular dystrophy (DMD) is one of the most common and severest muscular dystrophies. Although it can be a cause of death when associated with cardiac muscle and/or respiratory muscles, no cases of sudden deaths in the setting of undiagnosed DMD with cardiac involvement have been reported in the literatures. Previous studies showed that N-terminal-proBNP (NT-proBNP) was a robust laboratory biomarker to diagnose and monitor cardiac failure in clinical situations, suggesting that it may be used as an auxiliary indicator for diagnosis on left ventricular dysfunction in sudden cardiac deaths in forensic settings. Here, we reported a case of 29-year-old man who died suddenly. Autopsy revealed that muscles of the body were almost replaced by fatty and fibrotic tissues. The heart was enlarged with disarray and degeneration of cardiomyocytes in cardiac muscle. Total absence of dystrophin was detected by immunohistochemical staining, which confirmed DMD. Postmortem biochemical test of pericardial fluid revealed a high level of NT-proBNP, indicating dysfunction of the left ventricle before death. The cause of death was certified as an early dilated cardiomyopathy (DCM)/dysfunction of the left ventricle secondary to DMD, suggesting that sudden cardiac death with cardiac dysfunction could be identified by immunohistochemical method in combination with pericardial fluid NT-proBNP determination after systemic autopsy.http://dx.doi.org/10.1080/20961790.2017.1333249forensic medicinent-probnpsudden cardiac deathduchenne muscular dystrophyleft ventricular dysfunction |
| spellingShingle | Mengzhou Zhang Rui Zhao Tianshui Yu Jiaoyong Li Miao Zhang Shukun Jiang Linlin Wang Guohua Zhang Rubo Li Baoli Zhu Dawei Guan 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 Forensic Sciences Research forensic medicine nt-probnp sudden cardiac death duchenne muscular dystrophy left ventricular dysfunction |
| title | 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| topic | forensic medicine nt-probnp sudden cardiac death duchenne muscular dystrophy left ventricular dysfunction |
| url | http://dx.doi.org/10.1080/20961790.2017.1333249 |
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