Síndrome de heterotaxia: hallazgos tomográficos / Heterotaxy syndrome: tomographic findings

Resumen El objetivo de este trabajo es caracterizar los aspectos tomográficos relevantes en el síndrome de heterotaxia, mediante cuatro pacientes que ejemplifican los hallazgos más frecuentes en esta patología. Situs solitus es la disposición habitual de los órganos y vasos sanguíneos y situs inversus se refiere a la imagen en espejo del situs solitus. Cuando la disposición de los órganos es indeterminada e impredecible y no se corresponde con el situs solitus ni el situs inversus, estamos frente al situs ambiguus o síndrome de heterotaxia, espectro de anomalías poco frecuente en las relaciones de los órganos toracoabdominales. Puede acompañarse de isomerismo derecho o isomerismo izquierdo. Clasificarlo en dos subgrupos es habitualmente difícil, ya que ninguno de estos tiene hallazgos únicos y patognomónicos, sino que existe amplia superposición. Ambos son de mal pronóstico, en los casos de isomerismo izquierdo un 5-10% llegan a la edad adulta, siendo de peor pronóstico los casos de isomerismo derecho, debido a que presentan inmunodepresión secundaria a la asplenia y cardiopatías congénitas más severas. Se debe analizar cada caso de forma individualizada y detallada para establecer el diagnóstico, determinar la asociación lesional y establecer aquellos pacientes que presenten mayor riesgo de complicaciones.

Abstract The objective of this brief communication is to characterize the relevant tomographic aspects in the heterotaxy syndrome, by means of 4 patients that exemplify the most frequent findings in this pathology. Situs solitus is the usual arrangement of organs and blood vessels and situs inversus refers to the mirror image of situs solitus. When the arrangement of the organs is indeterminate and unpredictable and does not correspond to situs solitus or the situs inversus, we are facing the situs ambiguus or heterotaxy syndrome, abnormal spectrum of anomalies in the relations of the thoracoabdominal organs. It may be accompanied by right isomerism or left isomerism. Attempts to classify it into two subgroups are usually difficult since none of these has unique and pathognomonic findings, but rather there is broad overlap. Both are of poor prognosis, in the cases of left isomerism 5-10% reach adulthood, with a worse prognosis being the cases of right isomerism due to the fact that they have immunodepression secondary to asplenia and more severe congenital cardiopathies. Each case should be analyzed in an individualized and detailed manner to establish the diagnosis, determine the lesional association and establish those patients that present a higher risk of complications.

Clinical Features in Patients With Asplenia Syndrome Combining Complex Congenital Heart Disease / 中国循环杂志

To statistically study the patients with asplenia syndrome combining complex congenital heart disease (CHD) for their common cardiac malformation, frequency of occurrence and to explore the anatomical features with possible mechanism. Methods: A total of 47 patients with asplenia syndrome were analyzed including 27 male and 20 female at the age from 23 days to 32 years. The common cardiac malformation and frequency of occurrence were statistically studied. Results: ① The cardiac malformations were mainly with the following types: abnormal position of heart in 16 (34.0%) cases, a wide range of septal tissue defect in 47 (100%) cases, abnormal atrio-ventricular valve in 42 (89.4%) cases, abnormal aortic origin in 47 (100%) cases, abnormal position of 2 grate arteries in 46 (97.8%) cases, right ventricular outflow obstruction/pulmonary arterydysplasiain 45 (95.7%) cases, anomalous systemic venous drainage in 44 (91.5%) cases and anomalous pulmonary venous drainage in 28 (59.6%) cases. ② The cardiac malformations were usually involved in several positions as 1 (2.1%) patient with 4 kinds of abnormal structures, 5 (10.6%) patients with 5 kinds of abnormal structures, 13 (27.7%) patients with 6 kinds of abnormal structures, 23 (48.9%) patients with 7 kinds of abnormal structures and 7 (14.9%) patients with 8 kinds of abnormal structures. Conclusion: Asplenia syndrome combining cardiac malformation has been complex while with specificity. Laterality dysfunction might be the primarycause for series malformations.

Diagnosis the fetal asplenia syndrome by prenatal ultrasound / 中华超声影像学杂志

Objective To explore the ultrasonographic manifestations of the fetal with asplenia syndrome. Methods At 21751 cases of fetal systemic ultrasound examination during 20-40 weeks, 4 cases with asplenia syndrome were diagnosed. and the ultrasonographic manifestations of the 4 cases were analyzed retrospectively. Results The ultrasonographic features of fetal asplenia syndrome;①with complex and serious cardiovascular malformation; ②visceral transposition; ③ absence of spleen. Conclusions When the complex cardiovascular malformations were found by prenatal ultrasound,the position of fetal spleen and internal organs in order to early diagnosis of fetal asplenia syndrome.