Key result
Histiocytoid cardiomyopathy represents a mitochondrial cardiomyopathy characterized by abnormal Purkinje fibers and mtDNA mutations.
Histiocytoid cardiomyopathy is a rare genetic disorder that should be classified as a mitochondrial cardiomyopathy due to its association with mitochondrial DNA mutations and cellular characteristics.
May inform mitochondrial evaluation in rare cases; leaves open diagnostic and therapeutic implications pending validation.
Histiocytoid cardiomyopathy (HICMP) is a rare, genetic, cardiac disorder of infancy or childhood, predominantly affecting girls, and clinically manifesting as severe cardiac arrhythmias or dilated cardiomyopathy. Pathoanatomically, HICMP is characterized by subendocardial, epicardial, or valvular yellow-tan nodules, which are histologically built up of abnormal Purkinje fibers and multiple, scattered clusters of histiocytoid myocytes, which are filled with an increased number of normal or abnormal mitochondria. Within the myocardium, yellowish areas with irregular outlines are found and are histologically built up of enlarged, polygonal, histiocyte-like cells with foamy granular cytoplasm. Since HICMP is frequently found in patients with mitochondrial deoxyribonucleic acid (DNA) mutations, HICMP cardiomyocytes carry an increased number of normal or abnormal mitochondria, and may show markedly decreased succinate-cytochrome c reductase or NADH-cytochrome c reductase activity; HICMP should be regarded as mitochondrial cardiomyopathy.
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Josef Finsterer (2008) conducted a review in Histiocytoid cardiomyopathy. Histiocytoid cardiomyopathy is a rare genetic disorder characterized by abnormal Purkinje fibers and mitochondrial DNA mutations, and should be regarded as a mitochondrial cardiomyopathy.
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