Síndrome de Ivemark recidivante / Recurrent Ivemark syndrome

Resumen

The Ivemark syndrome is one of the heterotaxy syndromesor also named cardiosplenic syndromes. During the normal embryological development, as the body left-right axis is established also the organs assume their definitive positions. When variation of the body organs arrangement occurs precociously in embryogenesis, there is a tendency toward symmetric development of normally asymmetric organs or organ systems, with concomitant complex cardiac defects. The most significant forms of heterotaxy syndromes are the polysplenia syndrome and the Ivemark syndrome. Both are rare syndromes and seem to be responsible for 1% of all congenital cardiac defects. The Ivemark syndrome is usually manifested as asplenia, bilaterally trilobed lungs, symmetric liver, with a central position in the upper abdomen, gallbladder centrally positioned or in the left side, and complex cardiopathy. The authors describe a case report of a second gestation of an healthy young couple, to whom a diagnosis of Ivemark syndrome was made at 20th gestacional week. In her obstetric history she had a term pregnancy, with an Ivemark syndrome newborn -anatomo-pathological diagnosis-, who died of cardio-pulmonary insufficiency in the neonatal period. In the current pregnancy an increased nuchal translucency was detected in the first trimester ultrasound. Amniocentesis for fetal cariotype revealed a normal cariotype for a male fetus. In the ultrasound at 21th gestational week a complex cardiopathy was identified and echocardiography confirmed the diagnosis of right isomerism. The couple decided for a pregnancy interruption, which was accepted. The anatomo-pathological exam confirmed the diagnosis of Ivemark syndrome

Trissomia parcial do cromossoma 9 e trissomia parcial do cromossoma 2 / Partial trisomy of the chromosome 9 and partial trisomy of the chromosome 2

La trisomía parcial del cromosoma 9 puede ser la cuarta trisomía autosómica más frecuente, precedida únicamente por las trisomías 21, 13 Y 18]. La trisomía parcial del cromosoma 9 junto con la trisomía parcial del cromosoma 2 originan un fenotipo overlapping, con caracteristicas de cada una de las trisomías. Los autores describen un caso clínico de una primigesta de 28 años, fenotípicamente normal y sin patología conocida, a quien, tras haberle sido detectada una cardiopatía fetal compleja en ecografía obstétrica de rutina realizada en el tercer trimestre del embarazo, con posterior confirmación ecocardiográfica, le fue realizada amniocentesis con el diagnóstico de trisomía 9. El estudio del cariotipo de los progenitores permitió revísar el cariotipo fetal y concluir que se trata de trisomía parcial del cromosoma 9 y trisomía parcial del cromosoma 2

Partial trisomy of the chromosome 9 can be the fourth most common autosomal trisomy, after trisomies 21, 13 and 181. Partial trisomy of the chromosome 9 with partial trisomy of the chromosome 2 results in a distinctive appearance, an overlapping phenotype, with characteristic patterns recognized of each trisomy. The authors describe a case of a primigravid 28 years old, healthy and with a normal phenotype, who had a prenatal diagnosis of trisomy of the chromosome 9 by amniocentesis, after detection of a major complex fetal cardiopathy in a routine ultrasound of the third trimester of the pregnancy, which had echocardiograph confirmation. Genetic investigation of both progenitors was done and it was possible to review the fetal cariotype then, which permitted to establish the final diagnosis of partial trisomy of the chromosome 9 with parcial trisomy of the chromosome 2