DiGeorge (22q11.2 deletion) syndrome: Management and prognosis
- Christine M Seroogy, MD
Christine M Seroogy, MD
- Associate Professor
- University of Wisconsin Medical School
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) .
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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- ACUTE MANAGEMENT IN INFANTS
- Cardiac emergencies
- Feeding and swallowing issues
- Immunologic management of complete DGS
- - Choice of procedure
- - Cultured thymic transplant
- - Hematopoietic cell transplantation
- LONG-TERM MANAGEMENT
- Genetic counseling
- Correction of palatal defects
- Immunologic management of partial DGS
- - Monitoring of immune function
- - Infections
- - Vaccination
- SUMMARY AND RECOMMENDATIONS