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)

Five patients were encountered in whom agenesis either of the proximal extrahepatic biliary ducts (four patients) or total absence of the extrahepatic bile ducts and gall bladder (one patient) were evaluated. Jaundice was diagnosed from at birth to 3 weeks of age (average, 1.2 weeks of age) in these five patients. The patients' ages ranged from 2 to 8 weeks at the time of surgical exploration. Findings at surgery showed either absence of the entire extrahepatic biliary ducts or proximal bile duct remnants, no evidence of an inflammatory process, and no fibrous mass present at the portahepatis. Liver biopsy specimens showed histological evidence of cholestasis, minimal bile duct proliferation and fibrosis, and nearly complete absence of inflammation. In three patients in whom a portocholecystostomy was performed, no bile flow was obtained. Two patients underwent surgical exploration and liver biopsy only. One patient died as a result of severe congenital heart disease at 3 months of age. Four patients have undergone successful hepatic transplantation. These patients are now 10 months to 6 years of age. In our review of the literature, we were unable to find any reports of bile duct agenesis despite the fact that it appears to be a known phenomenon. We conclude that patients with biliary agenesis have early onset of jaundice when compared with patients with biliary atresia, absence of inflammation at the portahepatis at the time of surgical exploration, as well as on biopsy of the liver. Portoenterostomy or portocholecystostomy are likely to fail. We believe that liver transplantation is the treatment of choice for this rare entity.
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PMID:Agenesis of the extrahepatic bile ducts: report of five cases. 238 Sep 2

The radiographic features of five patients with arteriohepatic dysplasia are presented. These patients had congenital intrahepatic cholestasis with elevated serum bile acids, vertebral body abnormalities of shape and/or segmentation, shortened digits, and congenital heart disease, particularly peripheral pulmonic stenosis. They also had dysmorphic facies, eye abnormalities, hypercholesterolemia, and mild fat malabsorption. Some of the patients had neurologic, endocrine, and/or renal abnormalities as well, and they may have had hoarse voices due to vocal cord nodules. Variability in expression of the syndrome and vertical transmission suggest an autosomal dominant pattern of inheritance.
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PMID:Arteriohepatic dysplasia: radiologic features of a new syndrome. 677 28

We present a 6-year-old Chinese boy with Alagille syndrome and an interstitial 20p deletion, with a karyotype of 46,XY,der(20)dir ins(7;20)(q11.23;p11.23p12.2 or p12.2p13)mat. He had a peculiar face and suffered from congenital heart disease, growth retardation, severe cholestasis, hepatosplenomegaly, and impaired renal function. The karyotype of his mother showed a balanced translocation, 46,XX,dir ins(7;20)(q11.23; p11.23p12.2 or p12.2p13), and her phenotype was normal. His dead elder brother was highly suspected as another victim of Alagille syndrome. The findings in the present family suggested that if Alagille syndrome is a single gene defect, the putative gene responsible for the syndrome would not be located at the insertion breakpoints but located within the deletion extent.
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PMID:Alagille syndrome with interstitial 20p deletion derived from maternal ins(7;20). 882 31

In view of the scarce references concerning the histological data in congenital parvovirus human B19 infection, we intend to provide a description of the pathological features observed in six autopsies. The virus was detected by DNA hybridization (ISH-DBH), PCR and electronmicroscopy (EM) in paraffin-embedded feto-placentary tissues. These cases constitute a subset from 86 Non Immunologic Hydrops Fetalis (NIHF) cases, in which a systemic complex of inflammatory/degenerative lesions of unknown etiology was visualized by optical microscopy. In one case a syphilitic process was detected, typefying a double infection. All fetuses showed a similar pathology--hydrops, hepato-splenomegaly, lung hypoplasia and erythroblastemia, the specific histological feature being the presence of intranuclear inclusions in the erythroid progenitors, in the erythropoietic visceral tissue and in blood marrow. Complex cardiopathy allied to abnormal lung lobulation and polisplenia were observed once; in 2 cases endocardial fibroelastosis was diagnosed. The pulmonary lesions were represented by dysmaturity allied to interstitial mononuclear infiltration. The hepatic consisted of cholestasis, portal fibrosis, canalicular proliferation, hemossiderosis, focal necroses and giant cell transformation. The central nervous system lesions were predominantly anoxic although the autolysis impaired a correct diagnosis.
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PMID:Feto-placentary pathology in human parvovirus B19 infection. 983 Jul 27

We have studied 92 patients with Alagille syndrome (AGS) to determine the frequency of clinical manifestations and to correlate the clinical findings with outcome. Liver biopsy specimens showed paucity of the interlobular ducts in 85% of patients. Cholestasis was seen in 96%, cardiac murmur in 97%, butterfly vertebrae in 51%, posterior embryotoxon in 78%, and characteristic facies in 96% of patients. Renal disease was present in 40% and intracranial bleeding or stroke occurred in 14% of patients. The presence of intracardiac congenital heart disease was the only clinical feature statistically associated with increased mortality (P <.001). Initial measures of hepatic function in infancy including absence of scintiscan excretion were not predictive of risk for transplantation or increased mortality. The hepatic histology of these AGS patients showed a significant increase in the prevalence of bile duct paucity (P =.002) and fibrosis (P <.001) with increasing age. Liver transplantation for hepatic decompensation was necessary in 21% (19 of 92) of patients with 79% survival 1-year posttransplantation. Current mortality is 17% (16 of 92). The factors that contributed significantly to mortality were complex congenital heart disease (15%), intracranial bleeding (25%), and hepatic disease or hepatic transplantation (25%). The 20-year predicted life expectancy is 75% for all patients, 80% for those not requiring liver transplantation, and 60% for those who required liver transplantation.
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PMID:Features of Alagille syndrome in 92 patients: frequency and relation to prognosis. 1005 85

Liver transplantation in pediatric patients represents about 10% of a total of 23,000 transplantations registered in the European Liver Transplantation Register (ELTR)since 1968. The pediatric patients show a specific spectrum of indications with cholestatic liver disorders ranking first, followed by hepatic based metabolic disorders. There has been a significant improvement of survival in transplantation since the early 80ies. The overall survival standard is nowadays in the range of 80%. There is a trend towards even better results in metabolic disorders. The clinical presentation of liver disease caused by metabolic disorders shows a wide range from acute liver, cerebral, cardiac and renal failure to chronic end stage liver, kidney and heart disease potentially complicated by hepatocellular carcinoma. In many cases, the diagnosis of a underlying metabolic disorder is very difficult and time consuming so the decision to do a liver transplantation may be necessary before a final diagnosis is established. Having these problems in mind, the consideration of absolute and relative contraindications for liver transplantation in metabolic disorders is even more difficult than it is already in cholestatic or inflammatory liver disorders. The individual evaluation of a patient suffering from a hepatic metabolic disorder must consider in addition the often dramatic restriction of quality of life due to rigorous dietary restrictions or other therapies. This makes clear that suitable methods to measure quality of life must be developed and applied in order to fulfill this goal. The extension of indications for liver transplantation even to disorders with only partial defects in otherwise healthy livers was possible by using innovative surgical techniques such as partial, living related, split, in situ split and auxiliary orthotopic transplantation. These techniques allowed to reduce the mortality on pediatric waiting lists significantly without restricting the general donor pool. However, living related liver transplantation is handicaped by the heterozygous status of the parent donor. This plays a role especially in patients with progressive familial intrahepatic cholestasis (PFIC) and Wilson's disease.
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PMID:Liver transplantation in metabolic disorders. 1054 96

We report for the first time from the Arabian Gulf area 3 patients with arthrogryposis multiplex congenita, cholestasis and renal tubular dysfunction from a Saudi family with 2 other siblings and 3 cousins who possibly died with a similar clinical picture. We also document for the second time in literature other findings in this syndrome including cerebral abnormalities (hypoplastic corpus callosum), congenital heart disease and nerve deafness. We suggest that some of these cases might benefit from ursodeoxycholic acid therapy. We believe that this autosomal recessive disorder is possibly under-diagnosed in this region with a high consanguineous marriage rate.
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PMID:Arthrogryposis, renal dysfunction and cholestasis syndrome. 1153 3

Alagille syndrome (AGS; OMIM 118450) is a complex dominantly inherited multisystem disorder involving the liver, heart, eyes, facies, skeleton, and other systems. Criteria for the clinical diagnosis have been established as the presence of bile duct paucity on liver biopsy in association with three of five major clinical findings (cholestasis, butterfly vertebrae, posterior embryotoxon, congenital heart disease, and facial features). Jagged1 has been identified as the AGS disease gene. Jagged1 is a large gene, with no mutational hot spots, making molecular testing difficult at this time. Other clinical features would prove helpful in establishing the diagnosis in the absence of molecular confirmation. Supernumerary digital flexion creases have been identified in 16/46 (35%) of AGS probands examined through the Alagille Syndrome Diagnostic Center at the Children's Hospital of Philadelphia. Although digital abnormalities have been noted in AGS in the past, including short distal phalanges and fifth finger clinodactyly, digital crease abnormalities have never before been reported. Supernumerary digital creases have been reported in less than 1% of the general population. The presence of extra and missing digital creases in individuals with normal joint anatomy, their occurrence in several syndromes, and mouse in situ expression studies indicate that genetic factors contribute to digital crease formation. However, these factors are poorly understood. Hypotheses regarding the origin of flexion creases are discussed. The identification of supernumerary digital creases in one-third of AGS probands provides another diagnostic aid and allows for speculation of the role of Jagged1 in the molecular development of digital crease patterns.
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PMID:Supernumerary digital flexion creases: an additional clinical manifestation of Alagille syndrome. 1290 Sep 11

Alagille syndrome (AGS) was described more than 35 years ago as a genetic entity characterised by five major features: chronic cholestasis owing to paucity of interlobular bile ducts; peripheral pulmonary stenosis; butterfly like vertebral arch defect; posterior embryotoxon and peculiar facies. AGS has long been said to have a relative good prognosis but overall survival at twenty years averages 70%. Complex congenital heart disease and hepatic disease with or without liver transplantation contribute significantly to mortality. JAGGED1 has been identified as a responsible gene by demonstration of mutations in AGS patients. Studies of JAGGED1 expression pattern demonstrate that minor features and almost all the elements in the long list of manifestations described in AGS patients are not coincidental. This suggests that Alagille syndrome definition may be revisited in the light of JAGGED1 mutations.
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PMID:Alagille syndrome. 1242 Sep 16

Alagille syndrome (AGS) is an autosomal dominant genetic disorder characterized by chronic cholestasis, congenital heart disease, peculiar facies, butterfly-like vertebrae, and posterior embryotoxon. Liver dysfunction is the common presentation of AGS, and liver transplantation may be indicated. This study examines the outcome of living-related liver transplantation (LRLT) for AGS. Twenty patients with AGS (median age 5.0 years, range 0.6-12.9) underwent LRLT at Kyoto University Hospital between June 1990 and February 2002. Five potential donors were excluded because of paucity of intrahepatic bile ducts diagnosed by preoperative liver biopsy and one because of a hepatic vascular anomaly. The overall 5-year patient survival was 80.4%. Three patients died as the result of the following: complications related to surgery, heart failure caused by progressive pulmonary artery stenosis, and a graft with unsuspected bile duct paucity. Liver dysfunction was improved in all successful cases, and catch-up growth occurred in 90% of patients. LRLT is an efficacious treatment modality for AGS if donors are selected by cautious evaluation to rule out unsuspected bile duct paucity.
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PMID:Living-related liver transplantation for Alagille syndrome. 1282 28


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