ABSTRACT
RESUMEN Introducción: La tetralogía de Fallot es una estenosis infundíbulo pulmonar, dextroposición de la aorta de manera que cabalga sobre la comunicación interventricular del septum ventricular e hipertrofia ventricular derecha, es una de la más frecuente malformación congénita con una incidencia de 0,1/1000 nacidos vivos. Puede presentar asociaciones con otras malformaciones cardiovasculares y sistémicas. Cuando se agrega una quinta anomalía cardíaca estructural se denomina pentalogía de Fallot. Objetivo: Describir una cardiopatía congénita de baja prevalencia en la práctica clínica. Presentación del caso: Paciente masculino, de 12 años de edad, de piel negra, sin antecedentes familiares o personales de cardiopatía, que acude al cuerpo de guardia en compañía de su madre con polipnea toma del estado general, cianosis periférica generalizada, uñas hipocráticas. Se coloca en posición genupectoral y se medica con propanolol, después de controlar el cuadro y diagnosticado por ecocardiograma como portador de una pentalogía de Fallot y comprobado por resonancia magnética cardiaca, se traslada para la clínica Girasol para intervención quirúrgica, realizada a las 48 horas de su llegada con resultado satisfactorio. En esta enfermedad es posible hacer el diagnóstico durante la vida fetal, en nuestro caso fue tardío, lo que es infrecuente en la práctica clínica. Conclusiones: La detección temprana a través de la resonancia magnética cardiaca en este caso y el tratamiento quirúrgico oportuno, permitió la supervivencia del adolescente con el diagnóstico de pentalogía de fallot.
ABSTRACT Introduction: Tetralogy of Fallot is a pulmonary infundibulum stenosis, dextroposition of the aorta so that it rides on the ventricular septal defect and right ventricular hypertrophy, it is one of the most frequent congenital malformations with an incidence of 0.1/1000 live births. It can present associations with other cardiovascular and systemic malformations. When a fifth structural cardiac abnormality is added, it is called Pentalogy of Fallot. Objective: To describe a low prevalence congenital heart disease in clinical practice. Case report: This is the case of a 12 years old male patient, black skinned, with no family or personal history of heart disease, who is broght to the emergency room, by his mother, with polypnea, generalized peripheral cyanosis, hippocratic nails. He was placed in the genupectoral position and was medicated with propranolol. His condition was controlled. Echocardiogram study diagnosed he was having a Pentalogy of Fallot which was verified by cardiac magnetic resonance. Then, the child was transferred to Girasol Clinic for his surgical intervention, performed out 48 hours after his arrival. The surgery resulted satisfactory. It is possible to diagnose this disease during fetal life, in our case it was later, which is uncommon in the clinical practice. Conclusions: Early detection through cardiac magnetic resonance in this case and timely surgical treatment, allowed the survival of this adolescent with the diagnosis of pentalogy of Fallot.
ABSTRACT
Pulmonary agenesis is a very rare anomaly. It is defined as total absence of the pulmonary parenchyma, vascular structures, and bronchi beyond the carina. We experienced a case of right pulmonary agenesis in association with other congenital defects who died at 1 day of age. The other defects included: esophageal atresia, tracheoesophageal fistula, cardiac malformation, anal atresia and a malformed left thumb. The cardiac malformations were a type of Pentalogy of Fallot, composed of right ventricular hypertrophy, ventricular septal defect, an overiding of aorta, pulmonary atresia, and an atrial septal defect. Hand roentgenograms of the malformed left thumb showed an unarticulated metacarpopharyngeal joint. This unique combination of anomalies is extremely rare.