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DiGeorge (22q11.2 deletion) syndrome: Management and prognosis

Author
Christine M Seroogy, MD
Section Editor
E Richard Stiehm, MD
Deputy Editor
Elizabeth TePas, MD, MS

INTRODUCTION

DiGeorge syndrome (DGS) is a constellation of signs and symptoms associated with defective development of the pharyngeal pouch system. The classic triad of features of DGS on presentation is conotruncal cardiac anomalies, hypoplastic thymus, and hypocalcemia (resulting from parathyroid hypoplasia). Deletions in chromosome 22q11.2 are present in most patients with DGS, as well as in patients with other similar syndromes, such as velocardiofacial syndrome (VCFS, also called Shprintzen syndrome). These conditions are grouped together under the term chromosome 22q11.2 deletion syndrome (22qDS).

This topic reviews the management and prognosis of patients with DGS and 22qDS, with particular emphasis on immunologic aspects of the disease. Transplantation options for complete DGS are discussed. The epidemiology, pathogenesis, clinical manifestations, and diagnosis of DGS and 22qDS are presented separately. (See "DiGeorge (22q11.2 deletion) syndrome: Epidemiology and pathogenesis" and "DiGeorge (22q11.2 deletion) syndrome: Clinical features and diagnosis" and "Syndromes with craniofacial abnormalities", section on 'Velocardiofacial (Shprintzen) syndrome'.)

ACUTE MANAGEMENT IN INFANTS

The acute management of neonates suspected of having DiGeorge syndrome (DGS) or 22q11.2 deletion syndrome (22qDS) is focused upon evaluation and management of possible hypocalcemia and significant congenital cardiac defects, and identification and treatment of infants with complete DGS, a form of severe combined immunodeficiency (SCID) [1].

Cardiac emergencies — Neonates with DGS may require emergent cardiothoracic surgery for conotruncal cardiac defects. The types and presenting features of cardiac defects seen in patients with DGS are reviewed separately. (See "DiGeorge (22q11.2 deletion) syndrome: Clinical features and diagnosis", section on 'Cardiac anomalies'.)

The most common causes of cyanotic heart disease of the newborn in neonates with DGS are as follows, and management of each of these disorders is reviewed separately:

                

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Literature review current through: Nov 2016. | This topic last updated: Tue Mar 10 00:00:00 GMT+00:00 2015.
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