Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Duplications of the oesophagus are rare congenital abnormalities and rarely communicate with the oesophageal lumen. They are commonly associated with other congenital malformations, such as spinal deformities, congenital heart disease, vertebral anomalies, malrotation of the bowel, Meckel's diverticulum. During a percutaneous endoscopic gastrostomy, performed because of a neurological dysphagia, the endoscopy revealed a very rare case of a 26-year old man affected by Klippel-Trenaunay syndrome, with an asymptomatic oesophageal duplication that communicated proximally and distally.
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PMID:Communicating oesophageal duplication: a case report. 1456 22

Polysplenia syndrome (PS) is usually discovered in symptomatic patients in association with congenital heart disease or biliary atresia. Asymptomatic patients can present associated anomalies of the digestive tract such as intestinal malrotation and gastric or splenic malfixation. We report a case of PS presenting as a left flank mass shown to be an accessory spleen by denatured red blood cell scintigraphy. Upper gastrointestinal tract studies showed intestinal malrotation. Laparoscopic exploration confirmed intestinal malrotation and showed the absence of fixation of the accessory spleen. We performed a laparoscopic Ladd's procedure followed by fixation of the accessory spleen and resection of Meckel's diverticulum through a short left-flank incision.
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PMID:Interest of laparoscopy in polysplenia syndrome. 1474 33

Trisomy 13 is a very rare and lethal autosomal chromosomal malformation syndrome. Its incidence is 1/12,000 births. In this paper, we present a new trisomy 13 case associated with unusual and undescribed findings. This patient was the first child of unrelated parents with advanced maternal and paternal age, at 36 and 38 years, respectively. Unfortunately, the parents did not accept the prenatal diagnosis. The baby was born after 34 weeks of gestation by cesarian section. His birth weight was 1,865 g and he demonstrated typical craniofacial abnormalities for trisomy 13 such as severe microphthalmia, microcephaly and scalp defects, and peripheral chromosome analysis revealed trisomy 13. He died of congenital heart disease and sepsis on the 12th hospital day. A complete autopsy revealed a scalp and a skull defect at the vertex, aplasia of the 5th finger nails, a complex heart disease including pulmonary trunk atresia, patent foramen ovale, membranous ventricular septal defect (VSD), main aorticopulmonary collateral artery (MAPCA) and aortic dextroposition, arrhinencephaly, partial agenesis of the corpus callosum, and neuronal heterotopias in the cerebellum. He also had bilateral cystic renal dysplasia, Meckel's diverticulum, right inguinal hernia, ectopic splenic tissue in the pancreas, and ectopic thymus tissue adjacent to the thyroid. To our knowledge, this is a unique trisomy 13 case with numerous common and uncommon features including a bone defect in the skull, partial agenesis of the corpus callosum, aplasia of the 5th finger nails, and a complex heart disease including pulmonary atresia, patent foramen ovale, membranous VSD, MAPCA and aortic dextroposition, which have not been published previously in the relevant literature all together.
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PMID:A well-documented trisomy 13 case presenting with a number of common and uncommon features of the syndrome. 1922 28

Infants born with potentially life-threatening conditions of omphalocele and gastroschisis may require long-term hospitalization. We aimed to compare the outcomes of these two conditions occurring over a 16-year period (2001-16). It is a retrospective study of 19 newborns undergoing surgery for these two abdominal wall defects (8 patients with omphalocele and 11 cases of gastroschisis). The average birth weights for the newborns with omphaloceles and gastroschisis were 2554.5 g and 2248.6 g respectively. Associated anomalies included trisomy 18, Beckwith-Wiedemann syndrome, congenital heart disease, Meckel's diverticulum, inguinal hernias, renal deformities, limb deformities, cryptorchidism, body stalk anomalies, and closed gastroschisis. The average hospital stay for the newborns with omphaloceles and gastroschisis were 42.6 days 50.2 days respectively. The time to the start of postoperative nutritional supplementation for the newborns with omphaloceles and gastroschisis were 4.3 days for the infants with omphaloceles and 7.3 days for respectively. The survival rates for the newborns with omphaloceles and gastroschisis were similar, 87.5% and 81.8% respectively. Survival rates in omphalocele correlated negatively with associated anomalies. In gastroschisis cases, strict care is necessary when intestinal dilation is observed via fetal sonography.
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PMID:Omphalocele and Gastroschisis in Newborns: Over 16 Years of Experience from a Single Clinic. 2877 Jan 24