Large multifocal cardiac myxoma causing the sudden unexpected death of a 2-month-old infant--a rapidly growing, acquired lesion versus a congenital process?: a case report.

We report the occurrence of a clinically undiagnosed biatrial myxoma with left ventricular involvement in a 2-month-old male infant, resulting in sudden death. During a routine well-baby examination, a grade (34) holosystolic murmur was detected at the left sternal border with radiation to the axilla and back. On the following day, the patient collapsed and died suddenly. An autopsy revealed a large multifocal neoplasm diffusely involving the aortic valve while displaying mitral, tricuspid, and left ventricular extensions. The ensuing histopathologic and immunohistochemical studies were diagnostic for myxoma. We discuss the occurrence of cardiac myxoma within the pediatric population and review the literature as to theorize whether this lesion was a congenital process versus a rapidly growing tumor that developed after the child was born. Lastly, we address the potential for sudden death in patients with such tumors.

Congenital Presentation of a Solitary Superficial Angiomyxoma in the Parotid Region Masquerading as Parotid Tumor.

Superficial angiomyxoma is a rare cutaneous and benign lesion. We present a case of congenital presentation of a superficial angiomyxoma in the parotid region in a 9-year- old female that was misdiagnosed as a parotid tumor. Appropriate diagnosis is important since such lesions have a good prognosis and rarely affect deeper structures. Possibility of superficial angiomyxoma should be kept in mind in the differential diagnosis of lesions of the parotid region.

Congenital dermatofibrosarcoma protuberans with fibrosarcomatous and myxoid change.

This report describes a case of congenital dermatofibrosarcoma protuberans (DFSP) with fibrosarcomatous (FS) and myxoid areas. Immunohistochemical results showed that tumour cells in ordinary DFSP areas were diffusely positive for CD34, whereas in the FS and myxoid areas, few tumour cells were positive for this antigen. Ki-67 positive tumour cell numbers were greater in the FS (11.8%) and myxoid areas (19.8%) relative to ordinary DFSP areas (2.2%). Reverse transcription polymerase chain reaction and sequence analysis showed the presence of an identical COL1A1-PDGFB fusion transcript in ordinary DFSP (plaque-like area), FS, and myxoid areas of DFSP. These results indicate that the three components of DFSP have a common histogenesis. This study documents the first application of gene analysis involving the myxoid area of DFSP.

Osteochondromyxoma of bone: a congenital tumor associated with lentigines and other unusual disorders.

This article describes the clinical and pathologic features of four unusual bone tumors. Three were congenital or most likely so; the fourth, detected at age 1 year, was probably of considerable duration. The patients, three boys and one girl, each presented with a painless mass. Two had the Carney complex, a familial lentiginous and multiorgan tumorous syndrome; another probably had this disorder; the fourth did not show it, but his mother did. The tumors occurred in the nasal region (n = 2) and the diaphysis of the tibia and radius (n = 1 each). Roentgenographically, three had benign characteristics; the fourth, malignant features. Grossly, the tumors were gelatinous, cartilaginous. and bony. Microscopically, they featured benign-appearing polymorphic cells with few division figures arranged in sheets and lobules set in a myxomatous, cartilaginous, osseous, and hyaline fibrous matrix. Cellularity was low to moderate. The tumors eroded bone, one infiltrated between bony trabeculae, and three had soft tissue extension. Complete resection of one tumor was curative; incomplete excision of two tumors resulted in local recurrence (intracranial and fatal) in one and persistence in the other; the fourth tumor remains under observation after biopsy. No tumor metastasized.

Coexistent cardiac tumours and malformations of the heart.

Cardiac tumours and anatomical malformations of the heart may produce similar clinical signs and symptoms. The coexistence of these two abnormalities complicates diagnosis and probably adversely affects prognosis. We present a review of four cases of this rare combination. In the first case, Ebstein's malformation was present in a child with tuberous sclerosis and cardiac rhabdomyomata. Right ventricular rhabdomyomata were associated with a hypoplastic tricuspid valve in the second case. In the third case, cardiac myxomas were detected in a child with a double-chambered right ventricle. The fourth case was a child with a fibroma of the right ventricle with pulmonary atresia. We propose that, in some circumstances, a space-occupying lesion may be associated with, or possibly induce, a malformation within the developing heart.

Congenital superficial angiomyxoma.

Superficial angiomyxomas are rare, benign, dermal and subcutaneous tumours. We describe a 12-year-old girl who presented with a nodular swelling in the midline of her scalp that had been present since birth. Histological examination revealed an ill-defined myxoid lesion within the dermis, comprising spindle cells, blood vessels and occasional multi-nucleate giant cells. Immunohistochemical staining was negative for S-100, cytokeratin and smooth muscle actin, but focally positive for CD34. Our patient is unusual in that the angiomyxoma was present at birth, which has not previously been described. The importance of screening patients with cutaneous myxomas for cardiac lesions is discussed.

Ventricular tumors: surgical options.

Primary cardiac tumors of the ventricles are very uncommon. During an 8-year period only, nine such patients were encountered: the tumor was primarily in the right ventricle in six, in the left ventricle in two and biventricular in one. There were seven children and two adults in this series. Histologically, the neoplasm was benign in all patients. The tumor was obstructive in six patients, five of whom underwent surgery (complete resection in three, partial excision in one and a Fontan-Kreutzer procedure in one); one neonate died before an operation could be performed. In addition, one patient with an epicardial tumor underwent complete resection. There were no early or late deaths among the six patients treated surgically. The tumor was small and non-obstructive in two patients, who were not operated on: one died suddenly, and the other was followed without intervention. In summary, complete or partial excision of ventricular neoplasms can usually be accomplished with good long-term results. If resection is not possible, effective palliation may be achieved with a Fontan-type operation, excluding the right ventricle from the circulation.