RESUMEN
BACKGROUND: Pulmonary vein (PV) stenosis with anatomically normal connection is considered rare, unresponsive to treatment, progressive, and usually fatal. METHODS: We reviewed the records of 13 children with this diagnosis at our center since 1990. RESULTS: The number of stenosed PVs ranged from all PVs (n = 5); three PVs (n = 1); two PVs (n = 5); and one PV (n = 2). All patients had associated congenital cardiac abnormalities. Operation on PV stenosis was attempted in 7 patients (54%), 2 of whom have done well and 5 of whom have not. Two patients underwent heart transplantation for inoperable associated cardiac lesions. Significantly more patients with three or four stenosed PVs died (83%) compared with patients with one or two stenosed PVs (0%). CONCLUSIONS: (1) Pulmonary vein stenosis with anatomically normal connection is associated with other congenital cardiac abnormalities, (2) presentation and outcome are contingent on the number of stenosed PVs, (3) surgical palliation may be helpful in some patients, and (4) heart transplantation for inoperable associated cardiac abnormalities may be an option in patients with only one or two stenosed PVs.
Asunto(s)
Cardiopatías Congénitas/complicaciones , Venas Pulmonares/anomalías , Adolescente , Procedimientos Quirúrgicos Cardiovasculares , Niño , Preescolar , Constricción Patológica , Femenino , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/cirugía , Trasplante de Corazón , Humanos , Lactante , Masculino , Cuidados Paliativos , Venas Pulmonares/cirugía , Resultado del TratamientoRESUMEN
OBJECTIVES: To test the hypothesis that the common missense mutation of 5,10-methylenetetrahydrofolate reductase (MTHFR) (677 C to T, ala to val) is more prevalent among nulliparous preeclamptic women compared with control and transient hypertension of pregnancy patients. The correlation of the MTHFR T677/T677 genotype in mothers and fetuses was also investigated to test for possible maternal-fetal interactions. Lastly, possible differences in serum folate concentrations between control and preeclampsia patients and the possibility of a correlation between serum folate and MTHFR genotype were investigated as well. METHODS: The MTHFR genotype was determined for 114 control subjects, 99 preeclamptic patients, and 24 patients with transient hypertension of pregnancy by a polymerase chain reaction/restriction fragment length polymorphism (PCR) method. To ensure homogeneity of ethnic background, only samples from white women were analyzed. Results were analyzed with a chi 2 test for homogeneity. Serum folate was determined by radioimmunoassay (RIA). RESULTS: The prevalence of the MTHFR T677/T677 genotype was not significantly different between the populations studied. There was no significant difference in the prevalence of the MTHFR T677/T677 genotype between the infants of preeclamptic and control mothers. Furthermore, there was no difference in serum folate concentrations between control and preeclampsia patients, and there was no correlation between serum folate and MTHFR genotype. CONCLUSION: These data suggest that contrary to previous published reports, the C677T missense mutation of MTHFR is not a risk factor for preeclampsia in this nulliparous patient population. Furthermore, this mutation is not related to serum folate status in late pregnancy.
Asunto(s)
Ácido Fólico/sangre , Predisposición Genética a la Enfermedad , Oxidorreductasas actuantes sobre Donantes de Grupo CH-NH/genética , Polimorfismo de Longitud del Fragmento de Restricción , Preeclampsia/enzimología , ADN/sangre , Femenino , Sangre Fetal/enzimología , Genotipo , Humanos , Metilenotetrahidrofolato Reductasa (NADPH2) , Reacción en Cadena de la Polimerasa , Preeclampsia/genética , EmbarazoRESUMEN
In atrioventricular (AV) septal defect, the common AV valve can have a common orifice or can be divided by bridging leaflet tissue into two separate orifices. To determine the accuracy of a two-dimensional echocardiographic technique devised specifically for evaluation of the number of AV valve orifices, all 69 children undergoing surgical repair of AV septal defect from April 1987 to August 1990 were examined prospectively. The presence of bridging leaflet tissue and the number of AV valve orifices were determined with use of a subcostal imaging plane. From a standard subcostal four-chamber view, the plane of sound was rotated 30 degrees to 45 degrees clockwise until the AV valve was seen en face. The plane of sound was then tilted from a superior to an inferior direction so that cross-sectional views of the AV valve were examined from the inferior margin of the atrial septum to the superior margin of the ventricular septum. Of the 69 patients, 6 (9%) were excluded because the appropriate subcostal images were not obtained (in 3 because of obesity and in 3 as a result of operator failure). The remaining 63 children, ranging in age from 1 day to 13.5 years and in weight from 1 to 55 kg, constituted the study group. Echocardiographic results were compared with surgical observations in 62 patients and with autopsy findings in 1 patient. With the two-dimensional echocardiographic technique, 32 of 33 patients with a common orifice and 28 of 30 patients with two separate AV valve orifices were correctly identified.(ABSTRACT TRUNCATED AT 250 WORDS)