Extubation failure after cardiac surgery in children with Down syndrome.

Extubation failure (EF) after cardiac surgery is associated with poorer outcomes. Approximately 50% of children with Down syndrome (DS) have congenital heart disease. Our primary aim was to describe the frequency of EF and identify risk factors for its occurrence in a population of patients with DS after cardiac surgery. Secondary aims were to describe complications, length of hospital stay, and mortality rates. This report was a retrospective case-control study and was carried out in a national reference congenital heart disease repair center of Chile. This study includes all infants 0-12 months old with DS who were admitted to pediatric intensive care unit after cardiac surgery between January 2010 and November 2020. Patients with EF (cases) were matched 1:1 with children who did not fail their extubation (controls) using the following criteria: age at surgery, sex, and type of congenital heart disease. Overall, 27/226 (11.3%) failed their first extubation. In the first analysis, before matching of cases and controls was made, we found association between EF and younger age (3.8 months vs 5 months; p = 0.003) and presence of coarctation of the aorta (p = 0.005). In the case-control univariate analysis, we found association between an increased cardiothoracic ratio (CTR) (p = 0.03; OR 5 (95% CI 1.6-16.7) for a CTR > 0.59) and marked hypotonia (27% vs 0%; p = 0.01) with the risk of EF. No differences were found in ventilatory management. CONCLUSIONS: In pediatric patients with DS, EF after cardiac surgery is associated with younger age, presence of aortic coarctation, higher CTR reflecting the degree of cardiomegaly and hypotonia. Recognition of these factors may be helpful when planning extubation for these patients. WHAT IS KNOWN: • Extubation failure after cardiac surgery is associated with higher morbidity and mortality rates. Some studies report higher rates of extubation failure in patients with Down syndrome. WHAT IS NEW: • In children with Down syndrome, extubation failure after cardiac surgery is associated with younger age, presence of aortic coarctation, higher CTR reflecting cardiomegaly and severe hypotonia.

Prenatal Risk Factors for PHACE Syndrome: A Study Using the PHACE Syndrome International Clinical Registry and Genetic Repository.

The cause of PHACE syndrome is unknown. In a study of 218 patients, we examined potential prenatal risk factors for PHACE syndrome. Rates of pre-eclampsia and placenta previa in affected individuals were significantly greater than in the general population. No significant risk factor differences were detected between male and female subjects.

Resolución espontánea del higroma quístico en un feto con síndrome de turner y evolución postnatal / Spontaneous resolution of cystichygroma in a fetus with turner syndrome and postnatal evolution

Introducción. Con frecuencia el síndrome de Turner se presenta durante el embarazo con hidrops e higroma quístico, signos de mal pronóstico y alta mortalidad. En algunos pocos casos, los signos ecográficos remiten y el feto llega a nacer vivo e incluso sobrevive la etapa perinatal. Material y métodos. Estudio descriptivo a propósito de un caso. Resultados. Presentamos un embarazo con diagnóstico ecográfico a las 25 semanas de edad gestacional de hidrops e higroma quístico severo, con cariotipo 45,X en líquido amniótico y ecocardiograma fetal normal. En los controles ecográficos ulteriores, tanto el hidrops como el higroma, remitieron casi totalmente. El embarazo llegó hasta las 36 semanas de gestación y nació una niña con signos clínicos de síndrome de Turner: edema generalizado, predominante en miembros, dorso de manos y pies, y genitales externos; piel sobrante en nuca y cuello alado. Posnatalmente se diagnosticó una coartación de aorta, patología de difícil diagnóstico por ecocardiograma fetal, por lo que frecuentemente es subdiagnosticada, y la niña fue derivada para cirugía y falleció a la edad de un mes y cinco días por una complicación posquirúrgica. Conclusiones. La evolución observada en el presente caso, así como algunos otros pocos casos descriptos en la bibliografía, nos muestran que, aún en presencia de signos ecográficos prenatales severos, no puede predecirse el pronóstico de sobrevida en fetos con síndrome de Turner, por lo que conviene ser cautos en la comunicación con los padres.

Infrarenal aortic coarctation and diffuse hypoplasia of the aortoiliac-femoral system.

Infrarenal aortic coarctation and diffuse hypoplasia is a very uncommon vascular disease. It has been named as hypoplasia of the abdominal aorta, mid-aortic dysplasia, mid-aortic syndrome, atrophy of aorta, atresia of the terminal aorta, and atypical coarctation. The pathogenesis is still controversial. This is in part due to the fact that among the reported cases pathological studies have been rarely carried out. We recently came across an autopsy case of an adult patient with coarctation of the infrarenal aorta and severe hypoplasia of the aortoiliac-femoral system. The pathological findings found explain the pathogenesis of this particular case.

Coartación de aorta asociado con aneurisma / Coarctation of the aorta associated with aneurysm

Presentamos el caso de una paciente de sexo femenino, de 33 años, con diagnóstico de coartación de aorta, admitida en nuestra institución. La angiografía demostró coartación probable etiología, histopatología, y conducta terapéutica (AU)