Infantile cardiomyopathy with histiocytoid change in cardiac muscle cells. Report of six patients.

Abstract

Clinical and pathologic findings are presented in 14 patients (six newly reported, eight described previously), all children ranging in age from 6 to 24 months, with a clinicopathologic syndrome termed "infantile cardiomyopathy with histiocytoid change in cardiac muscle cells." This syndrome is manifested clinically by severe, eventually fatal cardiac arrhythmias, and is characterized pathologically by cardiac hypertrophy and by a distinctive type of focal degeneration of the muscle cells, which lose their myofibrils, undergo marked mitochondrial hyperplasia, become rounded in shape and enlarged, and resemble histiocytes. Evidence is presented to support the conclusions that these manifestations are those of a cardiomyopathy, that cardiac hypertrophy precedes the onset of the clinical features, that the focal degeneration is likely to be a cause rather than a consequence of the arrhythmias, and that the latter develop only in the late stages of the disorder. The etiology of this cardiomyopathy remains unclear.

Oxidative Phosphorylation Diseases

“…The LIC patient with cytochrome b deficiency occurred spontaneously within the pedigree, as did other cases with similar clinicopathologic findings (Amini et al, 1980;Witzleben and Pinto, 1978;Ross and Belton, 1968;Bruton et al, 1977;Haese et al, 1972;Kauffman et al, 1972;Ferrans et al, 1976;Suarez et al, 1987;Hug and Schubert, 1970). Two pedigrees contain affected siblings (Suarez et al, 1987).…”

“…Clinically, cardiac failure and cardiac dysrhythmias, including supraventricular, preexitation (Wolf-Parkinson-White), and ventricular dysrhythmias, are the predominant manifestations (Table I) (Ferrans et al, 1976). Two OXPHOS defects are associated with LIC: cytochrome b deficiency and cytochrome c+c1 deficiency (Barth et al, 1983) (see Class I mutations: Disorders of the nuclear DNA).…”

A Missense Mutation in the Mitochondrial Cytochrome b Gene in a Revisited Case with Histiocytoid Cardiomyopathy

“…Histiocytoid cardiomyopathy, initially described in 1962 by Voth (1), has received various names including infantile xanthomatous cardiomyopathy (2), focal lipid cardiomyopathy (3), oncocytic cardiomyopathy (4), infantile cardiomyopathy with histiocytoid change (5), and foamy transformation of infancy (6), although the term histiocytoid cardiomyopathy is now generally accepted (12). This is a rare but distinctive disorder of infancy and childhood characterized by the presence of characteristic pale granular foamy histiocyte-like cells within the myocardium.…”

Primary (genetic) cardiomyopathies in infancy. A survey of possible disorders and guidelines for diagnosis

“…Similar findings in a young infant were associated with a deficiency of cytochrome-c-reductase coenzyme [36]. The cardiologic findings in these metabolic forms of histiocytoid CM are remarkably different from "classical histiocytoid CM" [15] which is characterized by life-threatening arrythmias, by the absence of heart failure, and in most cases by focally distributed histologic changes.…”