Key result
Histiocytoid cardiomyopathy with endocardial fibroelastosis causes rare infant SCD and histologically mimics Pompe disease.
Highlights the importance of detailed post-mortem examination in infants with sudden death to identify rare causes like histiocytoid cardiomyopathy.
Requires expert cardiac pathology review to avoid misdiagnosing histiocytoid cardiomyopathy as Pompe disease in infant SCD; leaves open incidence and diagnostic criteria.
Detailed post-mortem is crucial in infants who die suddenly and without a known cause. We report a rare case of histiocytoid cardiomyopathy with endocardial fibroelastosis, the second case in the world literature. The infant presented with sudden death, but the cardiac histological appearance was initially believed to be caused by Pompes disease.
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Grech et al. (2000) studied this question. Histiocytoid cardiomyopathy with endocardial fibroelastosis is a rare cause of sudden cardiac death in infancy that can histologically mimic Pompe disease.
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