1/25. tuberous sclerosis with intracardiac rhabdomyoma in a fetus with trisomy 21: case report and review of literature.A large cardiac rhabdomyoma protruding into the left ventricle was diagnosed in a fetus at 21 2 weeks of gestation by grey-scale echocardiography. Obstruction to left ventricular outflow was ruled out by colour and spectral Doppler echocardiography. No other abnormalities were noted and karyotyping by cordocentesis revealed trisomy 21 (47,XY, 21). Post-mortem examination after termination of pregnancy confirmed the prenatal diagnosis of cardiac rhabdomyoma and in addition revealed fetal tuberous sclerosis. Demonstration of cardiac rhabdomyoma by prenatal ultrasound should raise suspicion of the presence of fetal tuberous sclerosis. Despite the incidental association with aneuploidy, fetal karyotyping is suggested for optimal counselling of parents.- - - - - - - - - - ranking = 1keywords = gestation, pregnancy (Clic here for more details about this article) |
2/25. rhabdomyoma in the fetus: illustration of tumor growth during the second half of gestation.Rhabdomyomata are the most common cardiac tumors in childhood and are associated with tuberous sclerosis. These tumors tend to regress in the first years of life. Little is known about their intrauterine growth pattern. We describe three fetuses with cardiac rhabdomyomata and illustrate the tumor growth by serial echocardiographic views during the second half of gestation. Tumor growth is proportional to cardiac growth and tends to be somewhat slower toward the end of pregnancy.- - - - - - - - - - ranking = 4.6keywords = gestation, pregnancy (Clic here for more details about this article) |
3/25. Cardiac rhabdomyoma in intrauterine life: clinical features and natural history. A case series and review of published reports.BACKGROUND: Fetal cardiac rhabdomyoma is very rare; despite the fact that many cases and series have been reported, the clinical presentation, the natural history and the frequency with which this pathology is associated with tuberous sclerosis complex are not well determined. The aim of this investigation was to study the clinical features and the natural history of cardiac rhabdomyoma when diagnosed during prenatal life. methods: Nine cases of cardiac rhabdomyoma detected among 5276 fetal echocardiograms recorded over a 10-year period in a single center were retrospectively reviewed. medical records and echocardiograms were studied to determine the prenatal and postnatal course and outcome. RESULTS: The incidence of cardiac rhabdomyoma in our center was 0.17%. The gestational age at diagnosis ranged from 27 to 36 weeks. The most common reason for fetal echocardiography was an abnormal obstetric ultrasound scan (6/9 cases). In no case was there a family history of tuberous sclerosis. In one case, the tumor was single whereas in 8 cases multiple tumors were diagnosed. During prenatal life the majority of tumors were clinically silent. One fetus died of hydrops and arrhythmia. Four children presented with arrhythmia postnatally and one required surgery. At a mean follow-up of 47 months, total or partial regression was observed in 7 patients. Seven patients developed postnatal clinical signs of tuberous sclerosis. CONCLUSIONS: Fetal cardiac rhabdomyomas are often benign and have a tendency to regress, but their prognosis is guarded due to very frequent association with arrhythmias and tuberous sclerosis. During prenatal counseling, it is of utmost importance to inform the future parents of the virtually constant perspective of tuberous sclerosis complex.- - - - - - - - - - ranking = 0.9keywords = gestation (Clic here for more details about this article) |
4/25. prenatal diagnosis and postnatal outcome of cardiac rhabdomyomas.AIMS: To evaluate the sonographic appearance of suspected fetal cardiac rhabdomyomas and their evolution until delivery and in the postnatal period. methods: The study group consisted of 6 patients at 23-37 weeks of gestation referred to our Ultrasonic Unit, between March 1992 and December 1998, for suspected fetal cardiac rhabdomyomas. RESULTS: The cardiac tumors were single in three cases and multiple in the other cases. The size ranged from 11 to 47 mm. In two cases the tumors arose from the right ventricle, in one case from the interventricular septum and in three cases from the left ventricle. Five infants are alive and in satisfactory hemodynamic compensation, but three of them developed tuberous sclerosis. In two infants a regression in the maximum diameter of the tumor masses has been observed. One child underwent surgical treatment at the age of six months and the baby died after surgery. CONCLUSIONS: Two-dimensional and Doppler echocardiography are useful non invasive methods to diagnose fetal cardiac rhabdomyomas and to monitor their influence on the fetal cardiac function. However they do not allow us to recognize which fetuses presenting with features compatible with rhabdomyomas will develop tuberous sclerosis.- - - - - - - - - - ranking = 0.9keywords = gestation (Clic here for more details about this article) |
5/25. tuberous sclerosis in a 19-week fetus: immunohistochemical and molecular study of hamartin and tuberin.tuberous sclerosis complex (TSC) is a genetically heterogeneous disease caused by mutations of TSC1 or TSC2 genes. It involves multiple organ systems resulting in mild to lethal hamartoma formation due to gene mutation in the germ line and loss of heterozygosity (LOH) in somatic cells. Hamartin (TSC1) and tuberin (TSC2) are expressed broadly. However, little is known about tissue susceptibility to hamartomas when equal or similar amounts of TSC gene expression are present. In this study, we present a 19-week gestational age fetus with pathological features of TSC, which was confirmed by finding LOH of TSC2 in a cardiac rhabdomyoma. Developmental expression of hamartin and tuberin in the TSC fetus, an age-matched non-TSC fetus, and a 26-week gestational age non-TSC fetus were analyzed by immunohistochemistry. We found that in addition to the differential expression of the TSC genes in some normal tissues compared with that in the TSC-affected fetus, the cellular localization and distribution of hamartin and tuberin were dramatically different in different tissues. In general, hamartin and tuberin are mainly expressed in epithelial cells, myocytes, and neural tissues. By comparing the incidence of the hamartomas in early childhood and gene expression in tissues, it appears that tissues with co-expression of hamartin and tuberin are prone to a higher incidence of hamartomas than those expressing only one protein, or two proteins but in different patterns of cellular localization.- - - - - - - - - - ranking = 1.8keywords = gestation (Clic here for more details about this article) |
6/25. Localized nodular hypertrophy mimicking rhabdomyoma in the fetal heart: prenatal sonographic and pathology findings.Multiple intracardiac masses (ICM) are considered to be diagnostic of rhabdomyoma often associated with tuberous sclerosis. We describe a fetus with multiple ICM detected by fetal sonography at 18.7 wk gestation. The appearance and number were consistent with leading diagnosis of rhabdomyoma. Due to complications of pregnancy and extreme prematurity, the fetus did not survive. autopsy showed the cardiac masses to be localized nodular hypertrophy (LNH) of the myocardium. No features of rhabdomyoma or tuberous sclerosis were present. In a review of the literature, similar lesions were reported in a child and two adults, perhaps as localized variants of hypertrophic cardiomyopathy. Our case does not, however, show the histopathologic features of hypertrophic cardiomyopathy. Isolated developmental abnormalities, such as in this case, can have a mass effect mimicking cardiac tumors. At the time of autopsy, the largest mass in the anterior wall of the right ventricle extended to and obstructed the right ventricular outflow tract.- - - - - - - - - - ranking = 1keywords = gestation, pregnancy (Clic here for more details about this article) |
7/25. Maternal and fetal tuberous sclerosis complicating pregnancy: a case report and overview of the literature.tuberous sclerosis complex (TSC) is an autosomal-dominant phakomatosis that can result in cardiac and central nervous system lesions and may adversely impact fetal and maternal health. We report a case of a 19-year-old primagravida with TSC whose pregnancy was complicated by preeclampsia, preterm labor, and fetal demise. The fetus, also affected with TSC, was diagnosed with a cardiac rhabdomyoma on ultrasound at 24 gestational weeks and intracranial tubers on fetal magnetic resonance imaging at 26 gestational weeks. hydrops fetalis developed in the 30th gestational week. Fetal demise occurred during induction of labor. A systematic review of the medical literature was conducted. Our objective was to quantify maternal and fetal morbidity and mortality associated with TSC. We identified 36 additional cases of fetal TSC with cardiac rhabdomyoma diagnosed prenatally. Including our case, we also identified 23 pregnancies (17 mothers) complicated by maternal TSC. Rates of complications are calculated. We conclude that pregnancies complicated by maternal or fetal TSC deserve careful vigilance. Although benign histologically, cardiac rhabdomyomas can result in fetal morbidity and mortality.- - - - - - - - - - ranking = 3.2keywords = gestation, pregnancy (Clic here for more details about this article) |
8/25. Tachyarrhythmia, cardiac rhabdomyomata and fetal hydrops in a premature infant with tuberous sclerosis.An hydropic infant was delivered at 32 weeks gestation by emergency Caesarean section for acute polyhydramnios. A diagnosis of cardiac rhabdomyomata was made on echocardiography. The baby survived 10 days, during which time repeated episodes of supraventricular tachycardia occurred. She eventually died of cardiac failure following an episode of septicaemia, convulsions and aspiration pneumonia. Necropsy showed multiple cardiac rhabdomyomata and numerous cerebral germinal layer and periventricular white matter nodules. This case stresses the importance of clinical investigations and perinatal necropsy in non-immune hydrops fetalis (NIHF) in determining the causes of clinical presentation and the underlying pathology.- - - - - - - - - - ranking = 0.9keywords = gestation (Clic here for more details about this article) |
9/25. tuberous sclerosis: immunohistochemistry expression of tuberin and hamartin in a 31-week gestational fetus.tuberous sclerosis complex (TSC) is a common autosomal dominant disorder in which affected patients develop a wide variety of benign and malignant tumors. We report here on a 31-week gestational age fetus with pathological features of TSC. Developmental expression of hamartin and tuberin in various tissues was studied using immunohistochemistry. There was loss of expression of hamartin in the tuber and weak expression of the tuberin. Both hamartin and tuberin were expressed in bronchial epithelial cells, cardiac muscles, renal collecting tubules, and neural tissues. The rhabdomyomas stained negatively for tuberin and hamartin. Two genetic loci are responsible for TSC-TSCI and TSC2. The TSC1 gene on chromosome 9 encodes a protein termed hamartin that lacks sequence similarity to any known proteins, whereas the TSC2 gene on chromosome 16 codes for a protein termed tuberin. These results indicate that tuberin and hamartin may play a critical role in development and thus provide a framework for understanding the developmental and hamartomatous manifestations of tuberous sclerosis.- - - - - - - - - - ranking = 4.5keywords = gestation (Clic here for more details about this article) |
10/25. Huge pericardial rhabdomyoma with hypoplastic left ventricle and lung.We describe the clinical course and autopsy findings of a female fetus with hydrops fetalis due to a huge pericardial rhabdomyoma. Fetal echocardiography at 21 weeks gestation demonstrated a huge tumor in the left ventricle. The fetus died of hydrops fetalis due to cardiac dysfunction at 24 weeks gestation. autopsy demonstrated that the tumor protruded from the epicardial region of the apex into the pericardial cavity and induced a hypoplastic left ventricle and lung. Microscopically, the cardiac tumor showed characteristics of rhabdomyoma. This localization of cardiac rhabdomyoma is rare, but we remain aware of the possibility of an unusual and rapid progression of cardiac rhabdomyoma.- - - - - - - - - - ranking = 1.8keywords = gestation (Clic here for more details about this article) |
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