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Histiocytoid cardiomyopathy with hypotonia in an infant
1Department of Pathology, Toho University School of Medicine, Tokyo, Japan.
Insights
Histiocytoid cardiomyopathy, a rare heart condition, involves abnormal cells in the heart. This case suggests a link between this condition and mitochondrial disorders, impacting muscle function.
Area of Science:
- Cardiology
- Pathology
- Genetics
Background:
- Histiocytoid cardiomyopathy is a rare cardiac disorder.
- Ventricular tachycardia can occur from the prenatal period.
Observation:
- A 15-month-old female experienced recurrent ventricular tachycardia and cardiac arrest.
- Autopsy revealed yellowish-white nodules in the endocardium, composed of histiocyte-like cells.
- These cells showed mitochondrial hyperplasia and myofibrils, consistent with histiocytoid cardiomyopathy.
Findings:
- The patient presented with hypotonia.
- Muscle biopsy showed decreased cytochrome c oxidase activity.
- This suggests a potential link between histiocytoid cardiomyopathy and mitochondrial cytopathy.
Implications:
- Histiocytoid cardiomyopathy may be a manifestation of mitochondrial disease.
- Further research is needed to explore the genetic and molecular basis of this association.
- This finding could lead to improved diagnostic and therapeutic strategies for affected children.
Abstract:
A 15 month old female, who had suffered from ventricular tachycardia from the prenatal period, experienced cardiac arrest at home. Once she had recovered, ventricular tachycardia occurred repeatedly. She died 7 months after admission. At autopsy, the heart showed many yellowish white nodules in the endocardium. Histologically these nodules consisted of granular or foamy histiocyte-like cells, which had spread to all four chambers. Electron micrographs showed mitochondrial hyperplasia in these cells. The cells had some myofibrils in their cytoplasm. These findings were compatible with histiocytoid cardiomyopathy. Interestingly, the present case showed hypotonia. Her muscle biopsy revealed decreased activity of cytochrome c oxidase, suggesting that histiocytoid cardiomyopathy is related to mitochondrial cytopathy.