22q11.2 deletion syndrome: an anaesthetic perspective
Keywords:DiGeorge syndrome, congenital heart disease, airway abnormalities, anaesthesia syndromes, transfusion-associated graft-versus-host disease
Owing to the increased sensitivity and availability of molecular testing, the last decade heralded a new understanding of 22q11.2 deletion syndrome. An awareness of the clinical significance of this syndrome is increasing across medical specialties.
22q11.2 deletion syndrome is the most common microdeletion syndrome. It affects most organ systems but, due to poor phenotypical recognition, it is still vastly underdiagnosed. The incidence of confirmed cases is 1 in 3 000 live births, and it is estimated that the actual incidence among the general population might be much higher than recognised.
Several syndromes previously classified according to phenotypical expression, such as DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, Cayler cardiofacial syndrome, CATCH 22 and several psychiatric abnormalities due to a deletion on the long arm of chromosome 22, are now known to be part of a single syndrome.
Pathological features of the syndrome extend beyond the better known conotruncal cardiac defects. Knowledge of the spectrum of the disease is paramount to delivering safe anaesthesia to this cohort of patients.
Anaesthetists have the opportunity to improve recognition and diagnosis of 22q11.2 deletion syndrome and all its clinical manifestations which will allow for multidisciplinary intervention and improve patient outcome and quality of life.
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