RESUMO
La pentalogía de Cantrell es una enfermedad rara, con características clínicas, anatómicas y embriológicas peculiares. Esta entidad es una variedad toracoabdominal de la ectopia cordis en la que se asocian cinco anomalías: defecto epigástrico de la línea media abdominal supraumbilical, defecto del tercio inferior del esternón, deficiencia del segmento anterior del diafragma, defectos pericárdicos y malformaciones cardíacas congénitas. La comunicación interventricular e interauricular se encuentra en la mitad de los casos y puede asociarse a otras anomalías extracardíacas como espina bífida, diversas malformaciones del sistema nervioso central, divertículo de Meckel, poliesplenia, entre otros. El diagnóstico se hace mediante ultrasonografía fetal en el primer trimestre de la gestación; en casos incompletos la tomografía helicoidal y la resonancia magnética complementan el diagnóstico. El tratamiento es quirúrgico y en varias etapas, lo primordial es proteger las vísceras expuestas y corregir la cardiopatía congénita. Los resultados aún son controversiales. El pronóstico de la enfermedad depende de la extensión del defecto, el diagnóstico temprano y el manejo perioperatorio. Nosotros consideramos que la pentalogía de Cantrell es una enfermedad compleja en la que es necesaria la intervención multidisciplinaria del equipo de salud para llegar al diagnóstico preciso y decidir el mejor tratamiento.
The pentalogy of Cantrell is a rare disease, with uniqueclinical, anatomical and embryological characteristics. This disease is a thoraco-abdominal variety of ectopia cordis. Five anomalies are associated: epigastric defect of theover umbilical abdominal mean line, defect of inferiorbreastbone third, defect of the anterior segment of the diaphragm, pericardial defects and congenital cardiac malformations. Ventricular septal defect and atrial septal defects are in half of the cases and it could be associatedto other extra cardiac anomalies as bifid spine, several malformations of central nervous system, meckeldiverticulum and polispleenia, among others. The diagnosis is made by fetal ultrasonography in the first trimesterof pregnancy. In incomplete cases, helical tomography and magnetic resonance imaging complete the diagnosis.The treatment is surgical and is carried out in severalstages. It is fundamental to protect the exposed viscera and to correct the congenital heart disease. The results still are controversial. The prognosis of the disease depends on the defect extension, time of diagnosis and peri-operative handling. We considered that the pentalogyof Cantrell is a complex pathology. A multidisciplinary health team intervention is necessary to reacha precise diagnosis and to decide the best treatment.
Assuntos
Ectopia Cordis , Pentalogia de Cantrell/diagnóstico , Cardiopatias , Espectroscopia de Ressonância Magnética , Doenças Raras , Ultrassonografia Pré-NatalRESUMO
OBJECTIVE: To evaluate the feasibility and accuracy of the sequential segmental analysis (SSA) to diagnose congenital heart diseases. MATERIAL AND METHODS: 100 cardiopulmonar specimens were analyzed according with the sequential segmental analysis. The atrial situs, atrioventricular (AVC) and ventriculoarterial connections (VAC) were defined, finally associated lesions were observed. RESULTS: From 100 specimens, 91 had situs solitus (SS), 6 inversus (SI) and 3 isomerism (2 right isomerism and 1 left isomerism). The AVC in these hearts were: 89 biventricular, 80 (90%) concordant, 6 (6.7%) discordant and 3 (3.3%) ambiguous (2 right topology an 1 left topology). The univentricular AVC were 11, 4 (36%) had absent left AVC (mitral atresia), 3 (27%) absent right AVC (tricuspid atresia), 2 (18%) double inlet right ventricle (DIRV), 1 double inlet left ventricle (DILV) and 1 (9%) double inlet undetermined ventricle. The VAC in SS were: 52 (57%) concordant, 13 (14%) discordant, 6 (6.6%) double outlet right ventricle (DORV), 20 (22%) with single outlet (13 pulmonary atresia , 5 aortic atresia and 2 common arterial trunk). The VAC in SI were: concordant in one, (16.7%), discordant 3 (50%) and DORV in 2 (33.3%). In the hearts with isomerism, the VAC were concordant in one, DORV in one and single outlet in another (pulmonary atresia). The associated anomalies were ASD (67%), PAD (51%) and VSD (53%). CONCLUSIONS: The SSA was and effective and accurate tool to codify clear and completely the congenital heart disease. It is suggested that if the SSA is normal to describe this situation as a Normal Basic Heart Organization and then to describe the associated anomalies.