1/508. Diprosopus (partially duplicated head) associated with anencephaly: a case report.Craniofacial duplication (diprosopus) is a rare form of conjoined twin. A 16 year old mother with a twin pregnancy delivered one normally formed baby boy and one diprosopus male. The malformed baby was 33 weeks of gestation with a single trunk, normal limbs and various degrees of facial duplication. Of the following structures there were two of each: noses, eyes, ears (and one dimple), mouths, tongues and, with bilateral central cleft lips and cleft palates. This was associated with holoprosencephaly and craniorachischisis. Internal organs showed no duplication. There were multiple congenital anomalies including diaphragmatic hernia, small lungs, two lobes of the right lung, ventricular septal defect, small adrenal gland and small left kidney with short ureter. The body also had a short neck, small chest cavities and kyphosis. X-ray revealed duplication of the vertebral column. The case presented here represents a type II of diprosopia of Rating (1933) and is the least common type reported. We also reviewed 22 recently reported cases of diprosopus. In addition to facial duplication, anencephaly, neural tube defect and cardiac malformations represent the more common congenital abnormalities associated with diprosopus. The pathogenesis of diprosopus is not well understood. Factors that play a role in diprosopus are probably similar to those factors (genetic, environmental and abnormal placental circulation) which affect monozoygotic twins as observed in this case report. Early ultrasonography diagnosis of diprosopus permits one to consider a vaginal therapeutic abortion.- - - - - - - - - - ranking = 1keywords = cardiac (Clic here for more details about this article) |
2/508. Clinical spectrum of infantile free sialic acid storage disease.Infantile free sialic acid storage disease (ISSD) is a rare autosomal recessive metabolic disorder caused by a lysosomal membrane transport defect, resulting in accumulation of free sialic acid within lysosomes. Only a few cases have been described. We report on three new cases of ISSD with different modes of presentation: an infant with nephrotic syndrome, a case of fetal and neonatal ascites with heart failure, and a case of fetal ascites with esophageal atresia type III. From these patients and a review of the literature (27 cases total) we draw the following conclusions. 1) "Coarse facies," fair complexion, hepatosplenomegaly, and severe psychomotor retardation are constant findings in this disorder. 2) nephrotic syndrome occurred in most cases (four in seven) in which renal evaluation was performed. Therefore, ISSD is an important cause of nephrosis in infants with a storage disorder phenotype. 3) Fetal/neonatal ascites or hydrops was the mode of presentation in 13 (60%) of 21 cases. Thus, ISSD enters in the differential diagnosis of hydrops fetalis with a storage disease phenotype. 4) cardiomegaly was evident in nine cases. 5) Corneae were always clear, and albinoid fundi were reported in five cases. 6) Dysostosis multiplex was not prominent. 7) bone marrow aspiration could be negative. 8) death ensued in early infancy with a mean age of 13.1 months. All reported deaths were caused by respiratory infections.- - - - - - - - - - ranking = 5.6546187555696keywords = heart (Clic here for more details about this article) |
3/508. prenatal diagnosis of hepatic mesenchymal hamartoma.A case of hepatic mesenchymal hamartoma diagnosed prenatally with ultrasound and confirmed histologically post-delivery is presented. Although histologically benign, this lesion resulted in fetal demise secondary to congestive cardiac failure in the third trimester. The development of non-immune hydrops in association with a fetal hepatic mesenchymal hamartoma is a poor prognostic sign for perinatal survival.- - - - - - - - - - ranking = 1keywords = cardiac (Clic here for more details about this article) |
4/508. Diagnosis of twin reversed arterial perfusion sequence in the first trimester by transvaginal color Doppler ultrasound.A case of twin reversed arterial perfusion (TRAP) sequence was diagnosed at 12 weeks' gestation using transvaginal color Doppler ultrasound, which demonstrated the presence of retrograde perfusion in the umbilical artery of the abnormal twin. Ultrasound imaging showed a monochorionic-diamniotic twin pregnancy with an inappropriately grown second twin, the morphological evaluation of which revealed an abnormal cephalic pole with acrania, diffuse subcutaneous edema and the presence of cardiac activity in an abnormal heart with a single chamber.- - - - - - - - - - ranking = 6.6546187555696keywords = heart, cardiac (Clic here for more details about this article) |
5/508. Antenatal diagnosis of Bart's hydrops fetalis [correction of homozygous alpha thalassemia]. A case report.OBJECTIVE: Diagnosis of the Bart's hydrops fetalis [corrected]. METHOD: Bart's hydrops fetalis [corrected] was discovered by chance in the fetus of a female Chinese patient. Major intrauterine growth retardation, oligohydramnios, an immobile fetus, and cardiomegaly were the principal echographic signs. cordocentesis showed fetal anemia, and electrophoresis of fetal hemoglobin revealed the presence of Bart's hemoglobin. RESULT: As there is no known effective treatment, termination of pregnancy was proposed to the patient. CONCLUSIONS: Bart's hydrops fetallis [corrected] is a lethal condition. Early echographic signs (cardiothoracic index >0.50, placental thickening) can be screened during weeks 17-18 or even during weeks 13-14 of gestation. These signs would permit a reduction of invasive examinations in couples at risk.- - - - - - - - - - ranking = 23.046238126367keywords = cardiomegaly (Clic here for more details about this article) |
6/508. Neurological morbidity after fetal supraventricular tachyarrhythmia.BACKGROUND: Fetal tachyarrhythmia is a well-documented entity which, in the absence of pharmacological intervention, may lead to congestive heart failure, fetal hydrops and eventually fetal demise. The success rate of the implemented treatment is generally measured by survival and achievement of control of the arrhythmia. We report on the occurrence of associated cerebral damage in three patients with fetal tachycardia. methods: We describe three patients with a history of fetal supraventricular tachyarrhythmia who developed cerebral complications in utero. RESULTS: Two patients had cerebral hypoxic-ischemic lesions and one had hemorrhagic lesions present at birth. They had developed severe congestive heart failure and fetal hydrops secondary to fetal tachyarrhythmia, and there were no other obvious causes for the cerebral pathology. Two of these patients were referred to us antenatally. Therapy was instituted and resulted in control of the tachycardia and resolution of hydrops. The third patient was referred to our clinic shortly after birth because of severe circulatory problems secondary to fetal tachyarrhythmia. CONCLUSION: From these observations, we believe that a fetus with tachyarrhythmia and subsequent hydrops is at increased risk for the development of cerebral complications, due to the circulatory disturbances and sudden changes in heart rate which may lead to fluctuations in cerebral perfusion. This would imply that it is of the utmost importance to aim at immediate and complete control of the heart rate in the treatment of fetal tachyarrhythmia.- - - - - - - - - - ranking = 22.618475022278keywords = heart (Clic here for more details about this article) |
7/508. trisomy 10: first-trimester features on ultrasound, fetoscopy and postmortem of a case associated with increased nuchal translucency.We report a case of the prenatal diagnosis of trisomy 10 in a fetus presenting with an increased nuchal translucency thickness (5 mm) on a routine first-trimester anomaly scan at 12 weeks' gestation. Multiple abnormalities were diagnosed by ultrasound and fetoscopy. karyotyping on chorionic villus sampling led to the diagnosis of homogeneous trisomy 10 which was confirmed by in situ hybridization on fetal tissue samples. Postmortem examination confirmed major anatomical malformations, including facial cleft, arthrogryposis of the upper and lower limbs and bilateral diaphragmatic hernia, and also revealed hypoplastic lungs, right renal agenesis and a complex cardiac malformation. trisomy 10 is an uncommon chromosomal abnormality that is likely to be associated with increased fetal nuchal translucency. This case also emphasizes the value of a detailed anomaly scan in high-risk patients in the first trimester of pregnancy.- - - - - - - - - - ranking = 1keywords = cardiac (Clic here for more details about this article) |
8/508. In utero treatment of fetal complete heart block with terbutaline. A case report.BACKGROUND: Isolated fetal complete heart block is an uncommon finding, with a mortality rate of 20-30%. Various treatment modalities have been reported, with no consistent success. CASE: Fetal complete heart bock was diagnosed in a 30-year-old woman at 29 weeks' gestation. She had an elevated antinuclear antibody and anti-SSA antibody titer. Fetal cardiac decompensation was detected at 32 weeks. After a trial of intravenous isoproterenol without significant side effects, she was treated with oral terbutaline. An increase in the fetal ventricular rate and complete resolution of hydrops fetalis occurred. A male infant was delivered by cesarean section, at term, and underwent cardiac pacemaker implantation at 4 days of age. CONCLUSION: The treatment of fetal complete heart block is controversial. Premature delivery with cardiac pacing is associated with high morbidity and mortality. We report prenatal treatment with oral sympathomimetic medication, which allowed delivery to be delayed until term, with a successful outcome.- - - - - - - - - - ranking = 42.582331288987keywords = heart, cardiac (Clic here for more details about this article) |
9/508. Progressive disease of the atrioventricular conduction axis in an infant of an anti-Ro positive mother.A child of a mother with maternal anti-Ro and anti-La antibodies presented antenatally with abnormal myocardial function, and was found to have a first degree heart block at birth. The extent of the abnormality in the conduction system progressed, with appearance of left bundle branch block in addition to further prolongation of PR interval. A pacemaker was implanted prophylactically, but patient has remained well, with no further deterioration in her atrioventricular conduction.- - - - - - - - - - ranking = 5.6546187555696keywords = heart (Clic here for more details about this article) |
10/508. Atrioventricular septal defect with separate right and left atrioventricular valvar orifices in a patient with foetal hydantoin syndrome.The teratogenic properties of phenytoin, including cardiac malformations, have been previously documented. We report one patient with foetal hydantoin syndrome and atrioventricular septal defect with common atrioventricular junction but separate right and left atrioventricular valves, an association that has not been described, to the best of our knowledge.- - - - - - - - - - ranking = 1keywords = cardiac (Clic here for more details about this article) |
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