DiGeorge syndrome and vascular ring. An unusual association with multidisciplinary approach

• Published in: Revista portuguesa de cirurgia cardio-torácica e vascular Vol. 16; no. 3; pp. 129 - 132
• Main Authors: Garcia, Pedro, Anjos, Rui, Abecassis, Miguel, Santos, José A Oliveira, Martins, F Maymone
• Format: Journal Article
• Language: Portuguese
• Published: Portugal 01.07.2009
• Subjects: DiGeorge Syndrome - complications; DiGeorge Syndrome - diagnosis; DiGeorge Syndrome - surgery; Humans; Infant; Male; Patient Care Team; Subclavian Artery - abnormalities
• ISSN: 0873-7215

Velo-cardio-facial syndrome/DiGeorge/CATCH 22 is a spectrum of association, characterized by unusual face, cleft or incompetent palate, congenital heart disease with defects of the outflow tracts, absence of the thymus and parathyroid glands, often associated with developmental and behavioral disorders. This association is caused by a microdeletion in chromosome band 22q11.2. In a 4-month-old infant, with obstructive lower respiratory distress and poor weight gain since 2 months of age, truncus arteriosus was diagnosed and surgically corrected. On the postoperative period maintained dependency on mechanical ventilation, with persistent hypoventilation of the left lung. Fiberoptic bronchoscopy revealed complete obstruction of the left main bronchus by an extrinsic compression due to a vascular ring diagnosed by cardiac catheterization that showed a common anomalous origin of both right and left subclavian arteries and the ligamentum arteriosum. A second surgery by left lateral thoracotomy corrected the vascular ring. The maintenance of the collapse of the left main bronchus led to selective endobronchial stenting. The migration of the stent to the trachea, with acute respiratory distress, required emergent endoscopic removal of the stent. Thereafter, the evolution was uneventful. The association of DiGeorge syndrome with vascular ring is unusual. Unexpected evolution in these patients require a multidisciplinary technical approach for diagnosis and eventual emergent intervention.