Histiocytoid cardiomyopathy presenting as sudden death in an 18-month-old infant

Foster, Jacob and Parsons, Sarah 2023. Histiocytoid cardiomyopathy presenting as sudden death in an 18-month-old infant. Forensic Science, Medicine and Pathology 10.1007/s12024-023-00730-2

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Abstract

Histiocytoid cardiomyopathy (HC) is an arrhythmogenic disorder, usually involving children under two years of age with a strong Caucasian and female predominance. The disease is fatal in the vast majority and diagnosis is nearly always established at autopsy, but this is only possible with adequate myocardial sampling. Meticulous gross and histological examination of the heart in collaboration with a cardiovascular-trained pathologist maximises the opportunity to make specific diagnoses (and therefore rule out the differentials of SIDS, SUDC and child abuse), guide genetic testing, and inform potentially life-saving medical interventions for blood relations. We present a typical HC case presenting as sudden death, without prodrome, in a previously healthy 18-month-old boy. The disease is characterised histologically by discrete groups of enlarged, polygonal histiocyte-like cells with distinct margins and abundant faintly eosinophilic foamy cytoplasm. Cells often contain coarse granules, microvacuoles and irregular, round nuclei. In our case, dysplastic fascicles were predominantly located immediately deep to the endocardium of the left ventricle. We report our own autopsy findings with histological images, and discuss the expected clinical, morphological and ultrastructural features of the disease.

Item Type:	Article
Date Type:	Published Online
Status:	Published
Schools:	Biosciences
Publisher:	Springer
ISSN:	1556-2891
Date of First Compliant Deposit:	26 April 2024
Date of Acceptance:	28 September 2023
Last Modified:	26 Apr 2024 14:35
URI:	https://orca.cardiff.ac.uk/id/eprint/167952

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