Infantile cardiomyopathy: A previously unrecognized type with histiocytoid reaction

doi:10.1016/S0022-3476(68)80109-X

The Journal of Pediatrics

Volume 73, Issue 3, September 1968, Pages 335-339

https://doi.org/10.1016/S0022-3476(68)80109-X Get rights and content

Two cases of a previously undescribed type of cardiomyopathy in infants are reported.The lesions were characterized by collections of large pale cells among the muscle fibers. The origin and nature of these have not been determined, but various possibilities are discussed.

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Cited by (33)

Ill-defined subendocardial nodules in an infant
2001, Pathology
Histiocytoid cardiomyopathy: A cause of sudden death in infancy
1997, Pathology Research and Practice
We report the case of an infant aged of 14 months deceased of sudden death. The diagnosis of histiocytoid cardiomyopathy was made on a necropsic basis. The pathologic examination showed a cardiac hypertrophy characterized by yellowish areas with irregular outlines, disseminated in the myocardium, and made of histiocyte-like cells with foamy or granular cytoplasm. These cells reacted positively with desmin and myoglobin labels, and had rare and disorganised myofibrils in electron microscopy, proving their muscular origin. The illness affects infants and usually causes severe cardiac troubles leading to death without treatment. This case is the fourteenth associated with sudden death.
Infantile histiocytoid cardiomyopathy: Three cases and literature review
1994, American Heart Journal
A review is presented of the clinical and cardiac morphologic findings in 50 previously reported and 3 new patients with histiocytoid cardiomyopathy. This disorder occurs in infants and small children and is characterized clinically by severe and often fatal arrhythmias and morphologically by focal collections of altered myocytes that are roundshaped and resemble histiocytes. Sixteen patients had yellowish nodules on the endocardium, epicardium, and/or valves; the other 37 had foci of abnormal myocytes throughout the myocardium. These cells were remarkably similar in all patients and had poorly developed or absent intercellular junctions, few or no contractile elements, and markedly increased numbers of mitochondria, which imparted a granular or vacuolated appearance to the cytoplasm. There was a high prevalence of anomalies involving the nervous system and eyes and of oncocytic cells in various glands. Evidence is presented to exclude the possibilities that the disorder represents a developmental anomaly of the atrioventricular conduction system, a multifocal tumor of Purkinje cells, a developmental arrest of cardiac myocytes, and a diffuse type of mitochondrial cardiomyopathy. Histiocytoid cardiomyopathy is considered to be the result of hamartoma-like aggregations of cardiac myocytes with features similar to those of oncocytes. This syndrome is likely caused by prenatal myocardial or systemic (viral?) injury. Surgical excision of nodules of histiocytoid cells can result in clinical remission.
Multiple Myocardial Hamartomas Causing Ventricular Tachycardia in Young Children: Combined Surgical Modification and Medical Treatment
1994, Mayo Clinic Proceedings
To describe two cases of incessant ventricular tachycardia caused by multiple myocardial hamartomas.
Two infants, 13 and 14 months old, who had had multiple episodes of symptomatic tachycardia were referred to our institution. Incessant ventricular tachycardia was diagnosed. Initially, the patients received pharmacologic therapy. The recurrent tachycardia resulted in notable hemodynamic instability. No structural abnormalities were detected on the echocardiograms. In one patient, an electrophysiologic study revealed that the site of ventricular ectopic beats was in the anterolateral wall of the left ventricle, midway between the apex and the base. In the other patient, a preoperative electrophysiologic study was not undertaken because of the inability to obtain central venous access.
Diffuse hamartomas were found throughout the ventricular myocardium in both patients. Surgical resection and cryoablation of the lesions in combination with medical therapy helped control the tachyarrhythmia. At 7 and 17 months postoperatively, the patients were in normal sinus rhythm and were receiving medication.
In young children who have incessant ventricular tachycardia but no lesion evident on echocardiography, angiography, or other imaging modalities, a myocardial tumor should be suspected, and pharmacologic therapy should be instituted. If the medical regimen fails, surgical intervention should be undertaken, directed at areas localized by inspection and by preoperative and intraoperative electrophysiologic studies.
Infantile histiocytoid cardiomyopathy- Myocardial or conduction system hamartoma: What is the cell type involved?
1993, Human Pathology
Primary myocardial diseases in the pediatric age group encompass a variety of metabolic, infectious, congenital, and acquired disorders, one of which is “histiocytoid cardiomyopathy.” We describe clinical and pathologic features in two infants. Autopsy findings in the first case were consistent with sudden cardiac death. The second infant has survived for 2 years on antiarrhythmic therapy with amiodrone. Microscopically, cells with vacuolated to granular cytoplasm were grouped in fascicles, imparting a pseudonodular appearance, but following a distribution reminiscent of conduction fibers. Ultrastructurally, the cells lack a T-tubule system, possess scattered lipid droplets and desmosomes rather than side-to-side junctions, and contain leptomeric fibrils that predominantly marginate to the cell periphery without sarcomeres. Immunostaining of paraffin-embedded tissue reveals perimembranous immunoreactivity for muscle-specific actin, but not for the histiocytic markers CD68 (KP1) and lysozyme. Immunohistochemistry may be a practical alternative when tissue is not saved for electron microscopy. The clinical and pathologic features of this disorder in light of the current literature suggest that it may be hamartoma, possibly of conduction system origin.
Oncocytic cardiomyopathy syndrome
1988, Human Pathology
The case presented is the first report of oncocytic cardiomyopathy associated with congenital heart disease. The clinical presentation was typical of hypoplastic left heart syndrome, and the oncocytic cardiomyopathy was an unexpected finding at autopsy. The associated lesions of oncocytic metaplasia in thyroid and pituitary gland have been previously reported. Maternal serology and viral cultures from the infant were negative, indicating that the oncocytic lesions were not secondary to congenital viral infection. We support the theory that oncocytic cardiomyopathy is a hamartomatous lesion, and propose as a paradigm the association between cardiac rhabdomyoma and tuberous sclerosis. Careful follow-up of surgically “cured” oncocytic cardiomyopathy should uncover onocytomas in other organs later in life.

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^*: Supported in part by the Public Health Service Research Grant No. FR 5410-06 from the National Institutes of Health.

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Original articleInfantile cardiomyopathy: A previously unrecognized type with histiocytoid reaction*

Dis. Chest

Histiocytic tumors (fibrous xanthoma and histiocytoma) in children

Cancer

Granular-cell myoblastoma of the myocardium; case report

Cancer

Original article
Infantile cardiomyopathy: A previously unrecognized type with histiocytoid reaction*