Síndroma 47 XYY com arco aórtico direito e ligamentum arteriosum: uma associação fortuita?

Abstract

The XYY male has characteristicaly tall stature, behavior problems and speech delay. There may may be an association with nephro-urologic malformations but cardiovascular anomalies are usually not present.It is reported a case of a boy with a 47 XYY karyotype with persistent respiratory distress and swallowing difficulties since two months old. On diagnosis workup the fiberoptic bronchoscopy showed a significant pulsatil tracheal obstruction at its right lateral wall and the magnetic resonance imaging of the mediastinum comproved the presence of a vascular ring (right aortic arch with left ligamentum arteriosum). The patient was submitted to surgery with improvment in the respiratory symptoms.The XYY male is a sex chromosomal abnormality that usually is not associated with cardiovascular malformations. A vascular ring presents with persistent respiratory distress and feeding difficulties; the begining and severity of the symptoms varies with the type of vascular ring. The main procedure to be requested is the fiberoptic bronchoscopy and the best image study is the magnetic resonance imaging of the mediastinum.