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.

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.

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.

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.

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.

Investigation and management of primary cardiac tumors in infants and children.

Seven children with primary cardiac tumors are discussed. The diagnosis was achieved by cardiac catheterization in all seven patients. In four patients, surgical excision was undertaken with one long-term good result. One of the other three surgical patients died of acute heart failure at the discontinuation of cardiopulmonary bypass. One of the other two surgical patients died suddenly late postoperatively, presumably from arrhythmia. The other, affected by fibrosarcoma, also died suddenly while undergoing chemotherapy. The histologic findings on the tumor masses were available in six patients. There were three rhabdomyomas, one fibrosarcoma, one fibroma and one hamartomatous mass. In one patient with tuberous sclerosis, a presumptive diagnosis of rhabdomyoma was made clinically on the basis of multiple masses infiltrating the left ventricle. Two-dimensional echocardiography is the best noninvasive tool to determine the extent and location of the tumor and suitability for surgery. When surgery is indicated, cardiac catheterization for pressure data is also required. Surgery is recommended in symptomatic solitary lesions that most likely are fibromas and have an overall good surgical outcome.

Echocardiographic evidence of left ventricular tumor in a neonate.

We present the case of a ten-hour-old infant with clinical findings suggestive of hypoplastic left-heart syndrome. A diagnosis of left ventricular tumor was made by echocardiographic examination. This diagnosis was confirmed at autopsy, when a large rhabdomyoma was found in the interventricular septum, obliterating the major portion of the left ventricular cavity. The echocardiographic findings are discussed.

Cardiac rhabdomyoma: surgical treatment in the neonate.

Primary cardiac tumors are rare. Of the benign lesions, rhabdomyoma predominates in infants and children. The natural history of patients with cardiac rhabdomyoma is poor. About 50% die in the first month of life and 80% by 1 year of age. We report on the two youngest infants ever operated upon successfully for removal of symptomatic ventricular cardiac rhabdomyoma. The operations were performed through a left ventriculotomy in one and through a right ventriculotomy in the other during the first day of life.

Obstructive rhabdomyoma and univentricular physiology: a rare combination.

We report the successful excision of a large left atrial rhabdomyoma producing complete obstruction of both inflow and outflow to the left ventricle. Systemic perfusion was dependent on anterograde ductual flow. The resultant univentricular physiology was initially managed medically, with spontaneous tumor regression contemplated as a means of possible long-term "cure." Failure to achieve hemodynamic stability compelled urgent surgical excision. This neonate was successfully discharged home with an in-series biventricular circulation.

Neonatal pulmonary autograft implantation for cardiac tumor involving aortic valve.

We diagnosed in a 4-day-old neonate a cardiac tumor involving the left atrium, left atrioventricular junction, left ventricular outflow tract, and aortic valve with severe subvalvular and valvular aortic stenosis. The critical involvement of the aortic valve and the scarcity of neonatal cardiac donors led us to perform a successful replacement of the aortic root with a pulmonary autograft, using a very small homograft for the native pulmonary valve (Ross operation).

Survey of congenital tumors in perinatal necropsies.

In an audit of 17,417 necropsies from 1939 to 1989 at the Royal Women's Hospital, Melbourne, Victoria, 46 congenital tumors comprising 24 teratomas, 8 vascular tumors, 6 neuroblastomas, three rhabdomyomas, two mesoblastic nephromas, one thyroid adenoma, one hepatic adenoma and one cerebellar medulloblastoma were found. The teratomas were generally large tumors and, because of their size and location, incompatible with extrauterine life. Ten teratomas were associated with polyhydramnios, three with obstructed labour, five of the fetuses were hydropic and four had malformations at sites distant to the tumor. Twenty teratomas occurred in stillbirths, half of whom were macerated. The vascular tumors were associated with polyhydramnios in three cases and hydrops fetalis in two. The neuroblastomas were all incidental findings. Four were intra-adrenal, one was an adrenal tumor which had metastasized to the liver and the remaining case was a small paravertebral lesion. Two of the three rhabdomyomas were multiple and one of these occurred in a case of tuberous sclerosis. One of the mesoblastic nephromas occurred in a hydropic fetus who had the Arnold-Chiari malformation. The thyroid and hepatic adenomas were small incidental lesions. The cerebellar medulloblastoma had led to marked hydrocephalus. Congenital tumors have different incidence, presentation and behaviour than those in childhood or adult life. The association of congenital tumors with congenital malformations and hydrops fetalis should always be remembered.

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.

Diffuse rhabdomyomatosis of the heart.

The myocardium of a 13-year-old boy was infiltrated with cells like those of classical congenital rhabdomyoma. In contrast to the latter condition, in which distinct nodules are present, our patient had an infiltrated myocardium without a distinct tumor formation. The condition is similar to that reported earlier and may be designated as diffuse rhabdomyomatosis.

Rhabdomyomatous dysplasia of lung and congenital diaphragmatic hernia.

A previously unrecognized association of pulmonary rhabdomyomatous dysplasia and congenital posterolateral diaphragmatic hernia is reported. The authors subscribe to the concept of ectopia and postulate an anomalous migration of cervical "diaphragmatic" rhabdomyoblasts as the most probable origin of the pulmonary muscle fibers.

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.

[Biventricular rhabdomyoma or a case of spontaneous regression. A two-dimensional echocardiographic study]. / Rabdomioma biventricular o un caso de regresión espontánea. Estudio con ecocardiografía bidimensional.

We present the case of an infant diagnosed by prenatal echocardiography as having a biventricular rhabdomyoma which was confirmed after birth. In the series of two-dimensional echocardiographies this tumor was seen to decrease in size until its complete disappearance.

[Catheter ablation of accessory pathways in patients with congenital cardiopathies]. / Ablación con catéter de vías accesorias en pacientes con cardiopatías congénitas.

The catheter ablation procedure in patients with accessory pathways and congenital heart defects can potentially become complicated because of abnormal anatomy and atypical conduction system. Eight patients ranging in age from 4.5 months to 18 years with accessory pathways and congenital heart defects underwent radiofrequency ablation. The cardiac diseases were diagnosed as Ebstein anomaly (n = 3), cardiac rhabdomyomas (n = 1), double outlet right ventricle (n = 1), endocardial cushion defect, partial form (n = 1), repaired Fallot's tetralogy (n = 1) and interventricular septal defect (n = 1). Six patients had manifest Wolff-Parkinson-White syndrome and 2 had concealed pathways. One patient with Ebstein anomaly had multiple accessory pathways. Radiofrequency ablation was initially successful in eight of the nine accessory pathways (89%). Two procedures were performed in one patient for pathway recurrence. Procedure was unsuccessful in 1 patient with Ebstein anomaly who later had surgical interruption of the accessory pathway. After a mean follow-up of 30.9 +/- 16.4 months, six of the 7 patients in which pathways were successfully ablated are tachycardia-free. One patient had late recurrence of tachycardia and is well controlled by propafenone.