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Histiocytoid cardiomyopathy: case report and literature review
1Department of Pathology, Bowman Gray School of Medicine of Wake Forest University, Winston-Salem, NC.
Insights
Sudden infant death can stem from various causes. A rare infantile cardiac disorder, histiocytoid cardiomyopathy, characterized by specific myocyte changes, was identified as the cause of death in a 15-month-old girl experiencing cardiac arrest.
Area of Science:
- Pediatric Pathology
- Cardiovascular Pathology
- Forensic Pathology
Background:
- Sudden infant death necessitates comprehensive autopsy, including radiologic, gross, microscopic, and toxicologic evaluations.
- Histiocytoid cardiomyopathy is a rare infantile cardiac disorder.
- This condition presents with characteristic myocyte abnormalities and can lead to sudden death in young children.
Observation:
- A previously healthy 15-month-old girl experienced witnessed cardiac arrest and ventricular fibrillation, resulting in death.
- Complete postmortem examination was performed to determine the cause of death.
Findings:
- Histiocytoid cardiomyopathy was identified as the cause of death.
- Microscopic examination revealed enlarged, polygonal subendocardial myocytes with granular cytoplasm and reduced myofibrils.
- Ultrastructural analysis confirmed numerous mitochondria and markedly reduced myofibrils within the myocytes.
Implications:
- This case highlights the importance of recognizing histiocytoid cardiomyopathy in the differential diagnosis of sudden infant death.
- Understanding the pathology of this rare condition is crucial for accurate diagnosis and potential future research into its etiology.
- The findings underscore the clinical presentation of cardiac arrhythmias and sudden death in children under two years of age associated with this disorder.
Abstract:
The sudden death of an infant may be due to a variety of causes. In such cases, complete autopsy with radiologic, gross, microscopic, and toxicologic examination is warranted. We present a case of a previously healthy 15-month-old girl with no known disease, who experienced witnessed cardiac arrest, ventricular fibrillation, and death. Complete postmortem examination revealed histiocytoid cardiomyopathy as the cause of death. Histiocytoid cardiomyopathy is a rare infantile cardiac-muscle disorder characterized by the presence of enlarged, polygonal subendocardial myocytes which, by light microscopy, lack normal striations, and instead have granular, faintly eosinophilic cytoplasm. Ultrastructurally, the myocytes contain numerous mitochondria and markedly reduced numbers of myofibrils. Clinically, the disorder is characterized by cardiac arrhythmias and/or sudden death occurring in children under the age of two years. We discuss the differential diagnosis, proposed theories of etiology, and the pathology of this rare entity.