1/108. Dystrophic calcification of the fetal myocardium.Intramural cardiac masses were detected antenatally in three fetuses by echocardiography. The masses were initially thought to be rhabdomyomas. All three pregnancies were terminated and histology showed dystrophic calcification in all, with no evidence of tumour. Therefore, dystrophic calcification of the fetal myocardium may have a similar appearance to single or multiple rhabdomyomas. This should be considered when counselling parents after detection of masses in the fetal heart, particularly when considering the risk of associated tuberous sclerosis.- - - - - - - - - - ranking = 1keywords = tuberous sclerosis, sclerosis (Clic here for more details about this article) |
2/108. Novel 23-base-pair duplication mutation in TSC1 exon 15 in an infant presenting with cardiac rhabdomyomas.tuberous sclerosis (TSC) is a dominantly inherited disorder due to mutations at two gene loci, the TSC1 locus on chromosome 9q34 and the TSC2 locus on chromosome 16p13.3. The TSC2 and the TSC1 genes have now been cloned, enabling mutation analysis. We report results of mutation analysis in a sporadic case of TSC first identified in intra-uterine life on the basis of the presence of cardiac rhabdomyomas. Postnatally this infant was also found to have subependymal nodules on brain computed tomographic scan. Hypomelanotic macules were not detected neonatally or at 12 months of age. The specific TSC1 exon 15 mutation found in our patient has not previously been reported in cases of TSC. This mutation involves duplication of a 23-bp segment of dna between two 9-bp repeated sequence elements within exon 15. These repeat elements are located between nucleotides 1892-1900 and between nucleotides 1915-1923 within the TSC1 gene sequence. It is likely that the presence of these two repeated elements predisposes to misalignment of dna strands and unequal crossing over. The mechanism of origin of rhabdomyomas in TSC is reviewed. loss of heterozygosity in the TSC gene regions has been reported in cardiac rhabdomyomas; however, these lesions are self-limiting in their growth. The basis for this self limiting proliferation is not clear. One interesting postulation is that cardiac rhabdomyomas may be due to delay or failure of apoptosis which occurs as part of the normal remodeling process in the heart.- - - - - - - - - - ranking = 0.0071673596479139keywords = sclerosis (Clic here for more details about this article) |
3/108. 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 = 2.0286694385917keywords = tuberous sclerosis, sclerosis (Clic here for more details about this article) |
4/108. Prenatal detection of cerebral lesions in a fetus with tuberous sclerosis.We report a newborn, diagnosed prenatally with both cardiac rhabdomyomas and a brain tumor. To the best of our knowledge, this is the first report of central nervous system (CNS) lesions detected prenatally in a child with tuberous sclerosis with term follow-up. At 36 months, the child has normal growth and is developing appropriately. Thus the finding of CNS tumors on fetal ultrasound examination can help in the prenatal diagnosis of tuberous sclerosis but does not necessarily indicate a poor prognosis.- - - - - - - - - - ranking = 6keywords = tuberous sclerosis, sclerosis (Clic here for more details about this article) |
5/108. Pre-excitation syndrome secondary to cardiac rhabdomyomas in tuberous sclerosis.Rhabdomyomas are not uncommon in infants with tuberous sclerosis. We describe a neonate who presented with hydrops fetalis arising from a tachyarrhythmia during fetal life related to rhabdomyomas. After reversion of the arrhythmia, pre-excitation was noted on an interval electrocardiogram. Following regression of the tumours, the delta wave disappeared with no further arrhythmias noted.- - - - - - - - - - ranking = 5keywords = tuberous sclerosis, sclerosis (Clic here for more details about this article) |
6/108. Transposition of the great arteries, pulmonary atresia, and multiple ventricular septal defects associated with multiple cardiac rhabdomyomas in a case of tuberous sclerosis.Multiple cardiac rhabdomyomas are frequently associated with tuberous sclerosis. However, very few cardiac malformations have been described with tuberous sclerosis. We report an unusual case of tuberous sclerosis with cerebral and renal lesions associated with dextrotransposition of the great arteries, pulmonary atresia, patent ductus arteriosus, multiple ventricular septal defects, and parachute mitral valve deformity. After reviewing other cases of congenital heart diseases associated with tuberous sclerosis, emphasis is made on the potential influence of multiple rhabdomyomas developing very early during fetal life on final cardiac structures.- - - - - - - - - - ranking = 8keywords = tuberous sclerosis, sclerosis (Clic here for more details about this article) |
7/108. Multiple cardiac rhabdomyomas detected in utero.Prenatal fetal echocardiography studies detected large multiple cardiac rhabdomyomas and led to the diagnosis of tuberous sclerosis. Despite episodes of bradyarrhythmias and severe lung compression in utero, the neonate did well and was discharged home on day 20 of life. On day 30 of life, the infant expired at home from cardiac arrest secondary to arrhythmia.- - - - - - - - - - ranking = 1keywords = tuberous sclerosis, sclerosis (Clic here for more details about this article) |
8/108. Intracardiac tumour and brain lesions in tuberous sclerosis. A case report of antenatal diagnosis by ultrasonography.A case of antenatal tuberous sclerosis was diagnosed by ultrasonography. Intracardiac tumour (highly suspected rhabdomyoma) with transitory heart failure and multiple brain lesions were observed. After delivery, echocardiography, spiral CT and MR imaging diagnosis of tuberous sclerosis was confirmed by typical skin lesions (depigmented macules) and development of seizures.- - - - - - - - - - ranking = 6keywords = tuberous sclerosis, sclerosis (Clic here for more details about this article) |
9/108. Acute pulmonary embolism resulting from cardiac tumors associated with tuberous sclerosis.A case report of a neonate with cardiac tumors in association with tuberous sclerosis is presented. The rare complication of pulmonary embolism and its successful treatment by anticoagulation and thrombolytic therapy is described. The treatment of these cardiac tumors is conservative, because the tumors regress spontaneously when the diagnosis is made in infancy. However, embolic event may rarely occur as a complication of cardiac tumors. If the cardiac tumors are treated conservatively, it is important to pay close attention to the occurrence of pulmonary embolism during the follow-up period.- - - - - - - - - - ranking = 5keywords = tuberous sclerosis, sclerosis (Clic here for more details about this article) |
10/108. 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 = 1keywords = tuberous sclerosis, sclerosis (Clic here for more details about this article) |
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