Ill-Defined Subendocardial Nodules in an Infant

Baillie, Tina; Chan, Yuen; Koelmeyer, Timothy D.; Cluroe, Alison D.

doi:10.1080/00313020120038610

Cited by 7 publications

(3 citation statements)

References 10 publications

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“…A few cases of HC have been investigated with electron microscopy [2-4, 7, 19, 20-24], immunohistochemical [2,[21][22][23], and enzymatic methods [6,8,22]; also, possible mutations in loci on the X-chromosome have been studied [9,10]. It is apparent that the term "histiocytoid" is a misnomer, as the cells in question have many features in common with myocytes.…”

Section: Discussionmentioning

confidence: 99%

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

Edston

Perskvist²

2008

Int J Legal Med

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A case of sudden infant death with histiocytoid cardiomyopathy and ventricular non-compaction was investigated with immunohistochemical methods. Histiocytoid cardiomyopathy is thought to be a developmental defect of the cardiomyocytes of the conduction system. In contrast to mature cardiomyocytes, the histiocytoid cells showed only weak reactions to desmin and myosin antibodies. They lacked cross-striation but reacted strongly to enolase and myoglobin antibodies. The protein Pax-7, seen only in cells undergoing differentiation, and the proliferation marker Ki-67 were not expressed in the histiocytoid cells. In areas of altered myocardium, clusters of CD4-, CD8-, and CD68-positive inflammatory cells were seen as well an abundance of mast cells. With the TUNEL method, it was found that many of the histiocytoid cells were undergoing apoptosis. Our results confirm that the histiocytoid cells are defective cardiomyocytes. The apoptotic and inflammatory changes point to a degenerative process rather than defective maturation of cardiomyocytes as has been suggested in some earlier studies. Ventricular non-compaction is a developmental defect of the subendocardial tissue with hypertrabeculation and weak development of the papillary muscles. Only one case combined with histiocytoid cardiomyopathy has been described previously. A causal connection between the two conditions cannot be established until more cases have been analyzed.

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Section: Discussionmentioning

confidence: 99%

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

Edston

Perskvist²

2008

Int J Legal Med

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“…They have a predilection to the female sex. These masses have been described with a variety of names such as infantile histiocytic cardiomyopathy, oncocytic cardiomyopathy, histiocytoid cardiomyopathy, Purkinje cell tumour, focal lipid cardiomyopathy, and idiopathic infantile cardiomyopathy [53,54]. …”

Section: Benign Cardiac Tumoursmentioning

confidence: 99%

Cardiac tumours in children

Uzun

Wilson

Vujanić

et al. 2007

Orphanet J Rare Dis

247

286

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Cardiac tumours are benign or malignant neoplasms arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic. Primary cardiac tumours are rare in paediatric practice with a prevalence of 0.0017 to 0.28 in autopsy series. In contrast, the incidence of cardiac tumours during foetal life has been reported to be approximately 0.14%. The vast majority of primary cardiac tumours in children are benign, whilst approximately 10% are malignant. Secondary malignant tumours are 10–20 times more prevalent than primary malignant tumours. Rhabdomyoma is the most common cardiac tumour during foetal life and childhood. It accounts for more than 60% of all primary cardiac tumours. The frequency and type of cardiac tumours in adults differ from those in children with 75% being benign and 25% being malignant. Myxomas are the most common primary tumours in adults constituting 40% of benign tumours. Sarcomas make up 75% of malignant cardiac masses. Echocardiography, Computing Tomography (CT) and Magnetic Resonance Imaging (MRI) of the heart are the main non-invasive diagnostic tools. Cardiac catheterisation is seldom necessary. Tumour biopsy with histological assessment remains the gold standard for confirmation of the diagnosis. Surgical resection of primary cardiac tumours should be considered to relieve symptoms and mechanical obstruction to blood flow. The outcome of surgical resection in symptomatic, non-myxomatous benign cardiac tumours is favourable. Patients with primary cardiac malignancies may benefit from palliative surgery but this approach should not be recommended for patients with metastatic cardiac tumours. Surgery, chemotherapy and radiotherapy may prolong survival. The prognosis for malignant primary cardiac tumours is generally extremely poor.

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“…Given the preponderance of this syndrome in infancy and considering the female to male preponderance, some researchers have postulated a genetic cause, perhaps with X linkage. 9,11 Studies focusing on common histologic features have demonstrated distinct findings of conduction system involvement with abnormal cells that are thought to be derived from conduction tissue, suggesting a tumor-like transformation of Purkinje cells. 2,4,7 There have also been studies suggesting a component of mitochondrial abnormalities as being central to histiocytic cardiomyopathy.…”

Section: Discussionmentioning

confidence: 98%