Clinical conference: De subitaneis mortibus. XIII. Multifocal Purkinije cell tumors of the heart.

Abstract

SUMMARYMultifocal Purkinje cell tumors were found in the heart of a nine-month-old black female infant who died with arrhythmias which had become progressively more frequent and severe until they were completely intractable. The Purkinje cell tumors were composed of exactly the same type of cells found in the left bundle branch and the right bundle branch, and they were also located in the expected region of the His bundle. In none of these locations were these Purkinje cells forming normal longitudinally oriented Purkinje fibers, however, and no such fibers were found anywhere in this heart. The cells of the tumors contained glycogen but not in excess of that normally expected to be present in Purkinje cells. No evidence for a generalized abnormality of glycogen metabolism or storage was present. Except for the Purkinje cells, the remaining myocardial cells of the heart were all normal. The fundamental fault appeared to be failure of the Purkinje cells to organize into the normal histological pattern which is characterized by longitudinally oriented Purkinje fibers. Instead, all the Purkinje cells were rounded or polygonal and generally aggregated together into small discrete nodules of varying size. Future cases of this nature deserve careful attention to the nature of their cardiac rhythm and conduction, and in fatal cases there should be special studies of the histological appearance of their cardiac centers of impulse formation and conduction.

Histiocytoid cardiomyopathy and ventricular non-compaction in a case of sudden death in a female infant

“…The cells showed no proliferative activity nor did they seem to undergo differentiation towards mature cardiomyocytes. Thus, our results do not support the hypothesis of defective maturation of cardiomyocytes of the Purkinje system [2,5,6,25]. On the other hand, we found that the altered cells were apoptotic, i.e., dead cells, pointing towards a degenerative acute or chronic process.…”

“…Increased interstitial infiltration Occasional sparse interstitial infiltration LCA Increased interstitial infiltration Occasional sparse interstitial infiltration Mast cells Increased interstitial infiltration Normal residents cells their ultrastructural features point to a possible kinship with the Purkinjecells of the conduction system [5][6][7].…”

“…Immunohistochemical studies have shown positive reactions to antibodies against desmin and actin and negative reactions to histiocyte markers [4]. Therefore, the cells in histiocytoid cardiomyopathy are thought to be transformed myocytes akin to Purkinje cells of the conduction tissue [5,6,7], possibly due to a mitochondrial disorder [8,9]. The female to male ratio is about 4:1, and some cases of affected siblings have been described, suggesting an inherited X-linked etiology [10].…”

Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): A clue to the pathogenesis of oncocytic cardiomyopathy?

“…Age of onset ranges from birth to 2 years, and one case with intrauterine tachycardia has been reported [Kearney et al, 19871. In the f i s t 26 cases reported [Wegman and Egbert, 1935;Voth, 1962;Ross and Belton, 1968;Reid et al, 1968;MacMahon, 1971;Haese et al, 1972;Kauffman et al, 1972;Bove and Schwartz, 1973;Deacon et al, 1974;James et al, 1975;Ferrans et al, 1976;Bruton et al, 1977;Witzleben and Pinto, 1978;Amini et al, 1980;Radford and Chalk, 1980;Silver et al, 1980;Becker and Anderson, 1981;Zimmerman et al, 1982;Saffitz et al, 19831, the diagnosis was made at necropsy, and no child survived longer than 9 months after onset of dysrhythmias. McGregor et al, [1984] reported the first case to be diagnosed during life and treated successfully with the removal of a single focus of oncocytic cells.…”

Pathologic features of myocardial hamartomas causing childhood tachyarrhythmias.

“…12,13 Currently, electrophysiologic mapping may localize the abnormality so that curative surgical excision can be performed for this previously fatal condition. 14 In this study we present the morphologic findings in 11 recently treated patients (nine of whom survived), review previously reported cases, and discuss concepts of pathogenesis of this peculiar myocardial lesion.…”