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- W4387598424 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." @default.
- W4387598424 created "2023-10-14" @default.
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- W4387598424 date "2023-10-13" @default.
- W4387598424 modified "2023-10-14" @default.
- W4387598424 title "Histiocytoid cardiomyopathy presenting as sudden death in an 18-month-old infant" @default.
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- W4387598424 doi "https://doi.org/10.1007/s12024-023-00730-2" @default.
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