Síndrome de Ellis Van Creveld / Ellis Van Creveld syndrome

Resumen El síndrome de Ellis van Creveld es un trastorno autosómico recesivo, caracterizado por mutaciones en los genes ECV y ECV2, los cuales son importantes para el desarrollo osteocondral. A nivel mundial, se han reportado aproximadamente 300 casos ,presentándose con mayor frecuencia en poblaciones endogámicas. Se caracteriza por distrofias óseas, displasias ectodérmicas y malformaciones cardíacas. El diagnóstico clínico puede ser confirmado mediante pruebas moleculares. A continuación, se presenta el caso de una paciente diagnosticada con el síndrome, la cual fue evaluada de manera interdisciplinaria. Esta revisión permitió dar a conocer un nuevo caso de la patología, relacionar las manifestaciones clínicas de la paciente con la literatura y describir nuevos hallazgos que pueden correlacionarse con el síndrome.

Abstract Ellis Van Creveld syndrome is an autosomal recessive disorder, characterized by mutations of the genes ECV and ECV2, which are very important in the osteochondral development. Worldwide, there have been reported around 300 cases that are commonly evidenced in populations where endogamy is typical. It is clinically characterized by bone dystrophies, ectodermal dysplasias, and congenital heart defects; the diagnosis can be confirmed by molecular tests. In the lines below, a case of a patient that suffers from this syndrome, and that was examined in an interdisciplinary way will be presented. This review allows us to show a new case of this pathology, to relate the clinical symptoms of the patient with the existing literature, and to describe new findings that can be correlated with the Ellis Van Creveld condition.

Anesthetic Considerations Concerning VSD a Patient with Eisenmenger's Syndrome: A case report / 대한마취과학회지

Eisenmenger's syndrome includes any condition in which communication between the pulmonary and systemic circulations gives rise to pulmonary vascular disease causing a right to left shunt with peripheral cynosis. The theoretical risks of anesthesia in patients with Eisenmenger's syndrome are considerable. We report on the case of a 47-year-old female patient with Eisenmenger's syndrome secondary to ventricular septal defect for transabdominal hysterectomy. Of prime concern was the maintenance of sytemic vascular resistance, and this was achieved using an infusion of phenylephrine started before the induction of anesthesia; the infusion continued after the operation. We carefully performed general anesthesia with N2O-O2-ketamine-fetanyl-enflurane. The patient was discharged for home 8 days later without complications.

Cardiac Arrest in Preeclamptic Patient with Unrecognized Heart Failure during Induction of General Anesthesia for Cesarean Section / 대한마취과학회지

Better medical management, together with a number of newer surgical techniques, has enable more girls with congenital heart disease to reach childbearing age. Congenital heart lesions now constitute at least half of all cases of heart disease encountered during pregnancy. Pregnancy is characterized by marked increase in stroke volume and cardic output during the antepartum period. The hemodynamic demands of pregnancy dangerously stress the impaired cardiovascular reserve. We experienced that a case of cardiac arrest in a preeclamptic patient with unrecognized heart failure during induction of the general anesthesia for cesarean section. We found out later that she had an operation because of patent ductus arteriosus at the age of 15 and then already had mitral valve regurgitation and LVH findings in the echocardiogram. We suggested that heart failure was enhanced by the hyperdynamic cardiovascular changes of normal pregnancy and further aggrevated by preeclampsia and anemia.

Changes in Arterial to End Tidal CO2 Difference during Pediatric Open Heart Surgery: Cyanotic vs Acyanotic Congenital Heart Diseases / 대한마취과학회지

BACKGROUND: The arterial to end-tidal carbon dioxide tension difference(Pa-ETCO2) can be increased in patients with congenital heart disease(CHD) and, therefore, end-tidal carbon dioxide tension(PETCO2) does not accurately approximates arterial carbon dioxide tension(PaCO2). The purpose of this study was to evaluate the stability of the Pa-ETCO2 in pediatric patients with congenital heart disease undergoing open heart surgery. METHODS: Forty three children with CHD were studied: twenty two were acyanotic and twenty one were cyanotic. Simultaneous PETCO2 and PaCO2 measurements, as well as pulse rate, blood pressure, pH and arterial oxygen tension(PaO2) were obtained for each patient during four intraoperative events: (1) after induction of anesthesia and before sternotomy, (2) after sternotomy and before cardiopulmonary bypass(CPB), (3) after weaning of CPB, and (4) after closure of sternotomy. RESULTS: The PETCO2 of cyanotic group were lower than that of acyanotic group throughout operation period, and did not change significantly after CPB. Cyanotic children demonstrated a greater Pa-ETCO2 difference before CPB as compared with acyanotic group. In acyanotic group, Pa-ETCO2 difference increased significantly after CPB(P <0.05), whereas it remained unchanged in cyanotic group. CONCLUSIONS: Since cyanotic children had higher Pa-ETCO2 differences intraoperatively and acyanotic children showed an increase in Pa-ETCO2 after CPB, the PETCO2 cannot be the alternative value to estimate reliably the PaCO2 during open heart surgery of pediatric CHD.

Epidural Anesthesia for Cesarean Section in a Parturient with Eisenmenger's Syndrome -A case report- / 대한마취과학회지

Eisenmenger' syndrome is defined as pulmonary hypertention with right-to-left or bidirectional shunt with peripheral cynosis. All patients with Eisenmenger' syndrome are at markedly increased risk and poor prognosis. We experienced a case of 31-year-old, pregnancy 36 weeks with Eisenmenger's syndrome secondary to PDA and Down syndrome. We carefully performed epidural anesthesia with fractionated doses of 2 % lidocaine and fentanyl. The sensory block reached to T6 level. Monitoring included ECG, invasive blood pressure, finger pulse oximetry and central venous pressure. Blood pressure was maintained with intravenous phenylephrine. Blood loss was promptly replaced with crystalloid solution and FFP. Postoperative pain was managed successfully with continuous epidural infusion of 0.2 % bupivacaine and fentanyl. The mother and baby were discharged home 1 week later without complicaton.