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)

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 (AS) is a multisystemic disease autosomal dominant, with variable expression. The major clinical manifestations are: chronic cholestasis, congenital heart disease, posterior embryotoxon in the eye, characteristic facial phenotype, and butterfy vertebrae. AS is caused by mutations in JAGGED1 (more than 90%) and in NOTCH2. Differential diagnosis include: infections, genetic-metabolic diseases, biliary atresia, idiopathic cholestasis. Cholestasis, pruritus and xanthomas have been successfully treated with choleretic agents (ursodeoxycholic acid) and other medications (cholestyramine, rifampin, naltrexone). In certain cases, partial external biliary diversion has also proved successful. Liver transplantation is indicated in children with cirrhosis and liver failure.
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PMID:[Alagille syndrome]. 2322 9

We report the successful anesthetic management of Hardy's operation in a patient with acromegalic heart failure. A 43-year-old man, weighing 98 kg, 182 cm in height, was scheduled for Hardy's operation under general anesthesia. He was admitted 'to our hospital with acute heart failure. At admission, the left ventric- ular ejection fraction (EF) decreased to 20% ; however, the angiography revealed no evidence of coronary artery stenosis. His physical features (enlargement of hand, feet, lips and ears, expansion of the skull at the fontanel) and a high level of growth hormone indicated acromegaly. Thus, we concluded that heart failure was due to acromegaly (acromegaly cardiomyopathy : AHD). The patient was scheduled for Hardy's opera- tion. Anesthesia was induced with midazolam, fentanyl, ketamine, propofol and rocuronium, and maintained with desflurane, remifentanil and intermittent doses of fentanyl. We used FlotracTM/VigileoTM monitor(Edwards Lifesciences) to check cardiac output and stroke vol- ume variation during operation. Intraoperative and postoperative hemodynamic variables remained stable. At follow-up 6 months after operation, he was clinically stable with no recurrence of heart failure, and repeat echocardiography demonstrated resolution of the myo- cardial dysfunction (EF 50%). Although acromegaly is well known as being associated with difficult laryngos- copy and intubation, we should pay attention to the presence of acromegalic heart disease. Improvement of cardiac function is expected after surgical therapy.
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PMID:[Anesthetic Management of Hardy's Operation in a Patient with Acromegalic Heart Disease]. 3035 23