The Use of Video-Assisted Cardioscopy for Neonatal Left Ventricular Tumor Resection.

We report the use of video-assisted cardioscopy (VAC) to assess the complete resection of a giant sessile rhabdomyoma of the left ventricle (LV) in a case of suspected neonatal tuberous sclerosis. A fetal echocardiogram performed at 20 weeks of gestation identified the mass at the apex of the LV and attached to the interventricular septum (IVS). Further echocardiography during the pregnancy demonstrated moderate growth of the LV mass. This was occupying more than two-thirds of the LV cavity after the delivery, and there were concerns of LV outflow tract obstruction. The 4-kg newborn underwent LV tumor excision via a left atrial approach at the age of 12 days. The mitral valve (MV) apparatus and the IVS had strong attachments to the mass. The tumor was successfully resected. In view of the invasiveness of the tumor, a decision was taken to perform an intracardiac assessment using a VAC to detect any iatrogenic complication. A Karl Storz Neuro Endoscope probe 4 mm in diameter and 14 mm in length with an angulation of 0° was passed into the left ventricular cavity through the MV with the aim to detect residual tumor and to identify any iatrogenic complications due to the extensive resection. Video-assisted cardioscopy allows visualization of inaccessible intraventricular structures avoiding ventriculotomy, which can cause ventricular dysfunction, arrhythmias, and aneurysm formation. The VAC was shown to be very useful in this situation, and the process can easily be repeated as required.

Everolimus: a challenging drug in the treatment of multifocal inoperable cardiac rhabdomyoma.

Primary cardiac tumors are rare in childhood. The most common of these are rhabdomyomas. Considering that rhabdomyomas often show spontaneous regression, close follow-up may be sufficient in hemodynamically stable cases. However, hemodynamically significant cardiac rhabdomyomas confer a risk of morbidity and mortality. Herein, we report a newborn infant with multifocal cardiac rhabdomyomas treated with everolimus. The optimal dose of the drug was 0.25 mg 2 times per day, 2 days per week. Patients with inoperable cardiac rhabdomyomas and with symptoms may be candidates for everolimus treatment.

Intrauterine fetal death due to cardiac rhabdomyomas.

A 21-year-old patient, in her first and regularly controlled uneventful pregnancy, was admitted to hospital due to lower leg edema, hypertension, proteinuria, and weight gain. Fetal death occurred the next day and a female nonhydropic fetus, 40 cm CH, 1460 grams, at 29-week gestation was delivered. An autopsy showed no visible gross abnormalities except in the heart. The heart was enlarged, with five intramural and subendocardial nodules, 0.3 to 1 cm in size, three in the left ventricular free wall, and one in the right ventricle and right atrium, sharply demarcated, reddish-gray, moderately firm, with the typical appearance of rhabdomyoma.

Fine needle aspiration cytology of fetal rhabdomyomatous and teratoid Wilms tumor.

OBJECTIVE: To review nephrectomy specimens for pediatric renal tumors seen over a period of 9 years (1995-2003). STUDY DESIGN: Specimens categorized as fetal rhabdomyomatous Wilms tumors (WTs) or teratoid WTs were selected. Corresponding fine needle aspiration cytology slides were subjected to cytomorphologic analysis. RESULTS: Of 93 specimens of WT, 3 cases of fetal rhabdomyomatous WT and 2 cases of teratoid WT were identified. The aspirates were stromal predominant, and all of them showed rhabdomyoblasts embedded within. These stained variably green or orange on Papanicolaou stain and blue-gray on May-Grünwald-Giemsa stain. In all 5 aspirates, foci of blastema with or without tubules were identified, permitting a diagnosis of WT. A squamous morule was seen in an aspirate from teratoid WT. CONCLUSION: The outcome of fetal rhabdomyomatous and teratoid WTs is good, but the tumors do not shrink with chemotherapy. Identification of rhabdomyoblastic elements on aspirates can help in assessment of subsequent response to treatment.

Cardiopatía congénita y rabdomioma cardíaco fetal: una asociación inusual / Congenital heart disease and fetal cardiac rhabdomyoma: an unusual association

La asociación de cardiopatías congénitas con rabdomiomascardíacos fetales es infrecuente. Presentamos dosnuevos casos de diagnóstico prenatal de esta inusual asociación,y analizamos sus implicaciones para el asesoramientode los padres y el manejo perinatal(AU)

The association of congenital heart disease with fetalcardiac rhabdomyomas is uncommon. We report twonew cases of prenatal diagnosis of this unusual association,further discussing its implications for parentalcounseling and perinatal management(AU)

Cutaneous fetal rhabdomyoma: a case report and historical review of the literature.

Fetal rhabdomyomas are well-documented tumors, affecting both children and adults that are composed of immature striated muscle at the sixth to tenth-week stage of development. Although there is often a predilection for the head and neck region, these tumors have been identified in a wide array of anatomic sites. A primary cutaneous presentation, however, has not yet been described. We report the first case of a fetal rhabdomyoma arising in the skin of a 1-year old girl. After the initial biopsy, an incomplete excision was performed with tumor present histologically at multiple surgical margins. In a follow-up period of 54 months, there has been no lesional regrowth or evidence of further progression. This case is detailed, in addition to a literature-based review of the historical and conceptual development of the neoplasm known as fetal rhabdomyoma.

Heart tumors in children and adults: clinicopathological study of 59 patients from a surgical center.

BACKGROUND: Heart tumors are rare lesions with variegated histological types. Their clinicopathological features could be more comprehensively categorized. METHODS: This is a 19-year retrospective study of 17 infants/toddlers (<2 years of age) and 42 patients aged between 14 and 79 years (mean = 51.5) in a surgical center. RESULTS: Congenital tumors (n = 17; 29%), including rhabdomyomas (n = 9), ventricular fibromas (n = 6), and hemangiomas (n = 1), required surgery mainly because of mass effect. Familial myofibromatosis was the only embolic congenital lesion. Acquired benign tumors (n = 28; 47%) included myxomas (n = 21), fibroelastomas (n = 3), myofibroblastic inflammatory tumors (n = 2), and lipomas (n = 2). Eight (29%) were revealed by systemic embolization. These benign noncongenital tumors were all treated by complete resection, except for an incompletely resected lipoma of the mitral valve. Postoperative arrhythmia (n = 1) and pericardial effusion (n = 3) were the only complications. Primary sarcomas (n = 8; 14%) were mostly vascular tumors (five of eight), and patients with high-grade tumors had a mean survival of 15 months (n = 5). Cardiac metastases (n = 6; 10%) were from carcinomas (n = 3) or sarcomas (n = 3); apart from a necrotic metastasis, all patients died (mean survival of 6 months). CONCLUSIONS: This study shows that, regardless of patients' age, heart tumors can be classified as: (a) congenital lesions, which are spontaneously nonprogressive or regressive lesions possibly requiring surgery mainly because of mass effect; (b) acquired benign tumors, which are lesions requiring surgery often because of embolization risk; and (c) primary and secondary malignant tumors, which are lesions with globally poor prognosis but with some indications for resection.

Cardiac rhabdomyoma in a neonate: application of serial echocardiography.

Primary cardiac neoplasms are rare. Rhabdomyoma is the most common benign congenital tumor found in infancy and has a tendency for spontaneous regression. We report a case of a cardiac rhabdomyoma in a symptomatic neonate in whom serial echocardiography was used for diagnosis and documentation of initial regression as early as 1 month.

Recurrent fetal rhabdomyoma of the head and neck.

We present a case of a congenital fetal rhabdomyoma which recurred after surgical excision. A review of the patient's chart, imaging studies, operative reports and histologic findings were conducted. A congenital fetal rhabdomyoma involving the head and neck region diagnosed prenatally by ultrasound and MRI was surgically excised without complications. The patient presented with recurrence of the tumor fourteen months after the initial surgery. This case report is supplemented with a review of the relevant literature on congenital fetal rhabdomyoma. This is the fifth documented case of recurrence of a fetal rhabdomyoma. Extracardiac rhabdomyomas are extremely rare benign tumors. Complete excision of these lesions is curative with only a handful of recurrences documented in the literature. Close follow up and a complete workup to rule out rhabdomyosarcoma is warranted in all cases of recurrence.

A giant rhabdomyoma with left ventricular inflow occlusion and univentricular physiology.

During a routine prenatal ultrasound a huge tumor was diagnosed located in the left ventricle and left atrium with complete obstruction of the left ventricular inflow tract. On the first day of life, urgent surgical intervention was necessary because of progressive heart failure with univentricular physiology. Intraoperatively, the tumor mass was found to originate from the left ventricular wall, reaching into the left atrium. Histological examination revealed a rhabdomyoma.

Rhabdomyomatous mesenchymal hamartoma associated with nasofrontal meningocele and dermoid cyst.

A 1-year-6-month-old girl presented with a subcutaneous tumor of the forehead, which had developed since birth. The preoperative examinations showed nasofrontal bone defect with meningocele and subcutaneous tumor with cyst. The patient underwent excision of the tumor and reconstruction of the bone defect. Histologically, the skin tumor exhibited disordered arrangement of striated muscle fibers among normal dermal components, and the cyst was lined by cornified epithelium with a few hair adnexa and contained lamellated keratin. These findings were consistent with rhabdomyomatous mesenchymal hamartoma (RMH) and dermoid cyst. This is an interesting case of RMH co-existing with nasofrontal meningocele and dermoid cyst in the same area. We suggest embryologic errors as a possible etiology, which is incomplete dysjunction of the neural ectoderm from the cutaneous ectoderm. Failure of insertion of mesoderm between the ectoderms caused the bone defect and the disordered proliferation and differentiation of mesoderm-derived tissue, leading to formation of hamartoma.

Nevoid basal cell carcinoma syndrome and fetal rhabdomyoma: a case study.

Fetal rhabdomyoma is not generally considered part of nevoid basal cell carcinoma syndrome. However, a review of the literature revealed five patients with this syndrome who also had fetal rhabdomyomas in various locations. We report the first patient with nevoid basal cell carcinoma syndrome and a fetal rhabdomyoma of the tongue. We recommend that embryonal rhabdomyosarcoma be ruled out to avoid overly aggressive treatment of these patients.

Cardiac rhabdomyoma in a juvenile fallow deer (Dama dama).

A cardiac rhabdomyoma is described in a 6-wk-old captive fallow deer (Dama dama) that died suddenly without previous clinical signs. The tumor was characterized by multiple nodules composed of large atypical vacuolated myoblastic cells. As previously reported in humans and other animal species, there is compelling evidence that the cardiac rhabdomyoma is a congenital developmental anomaly rather than a true neoplasm. To our knowledge, this is the first report of a cardiac tumor and a rhabdomyoma in a cervid species.