RESUMEN
Velocardiofacial or 22q11 deletion syndrome is a genetic condition caused by deletion 22q11, the deletion of a small segment of the long arm of chromosome 22. To our knowledge this is the first case report of a woman with Velocardiofacial syndrome presenting in late pregnancy for caesarean delivery. She had undergone a Tetralogy of Fallot repair as an infant and had residual pulmonary regurgitation. In addition examination revealed micrognathia and scoliosis. Neuraxial anaesthesia was unsuccessful and subsequent conversion to general anaesthesia was necessary despite concerns regarding her facial abnormalities, pulmonary regurgitation and mild intellectual impairment.
Asunto(s)
Anestesia de Conducción , Anestesia Obstétrica , Síndrome de DiGeorge/complicaciones , Adolescente , Anestesia General , Cesárea , Femenino , Humanos , Discapacidad Intelectual/complicaciones , Embarazo , Insuficiencia de la Válvula Pulmonar/complicaciones , Escoliosis/complicaciones , Insuficiencia del Tratamiento , Trilogía de Fallot/complicacionesRESUMEN
BACKGROUND: Thiamazole is a widely used antithyroid agent that has been approved for the treatment of hyperthyroidism. Although thiamazole-induced hepatotoxicity is a main side effect, it may progress to liver failure in a very few cases. CASE PRESENTATION: We described a 24-year-old patient with hyperthyroidism and trilogy of Fallot, who developed liver failure due to thiamazole. Liver biopsy showed intrahepatic cholestasis, mild inflammatory infiltrates, as well as significant fibrosis, indicating both acute and chronic liver injuries. Although a series of potent therapies were given, the patient deceased due to severe liver decompensation. CONCLUSIONS: This case suggests that thiamazole-induced hepatotoxicity in the setting of advanced fibrosis increases the risk of poor outcome. Regular liver function monitoring during thiamazole therapy is therefore important.
Asunto(s)
Antitiroideos/efectos adversos , Antitiroideos/uso terapéutico , Hipertiroidismo/tratamiento farmacológico , Fallo Hepático/inducido químicamente , Metimazol/efectos adversos , Metimazol/uso terapéutico , Trilogía de Fallot/complicaciones , Resultado Fatal , Humanos , Fallo Hepático/diagnóstico , Masculino , Adulto JovenRESUMEN
The results of radical correction of interatrial septum defects and heart diseases associated with it were analyzed after treatment of 502 patients at the age from 5 to 48 years. In most cases (58.4%) the patients were adults. The isolated defect of the interatrial septum was diagnosed in 377 patients. Correction of the defect was performed in 82 patients (16.3%) under mild hypothermia and 420 patients (83.6%) were operated upon under conditions of artificial circulation. General lethality was 7.7%.