DETECTION OF A 22Q11.2 DELETION IN CARDIAC PATIENTS SUGGESTS A RISK FOR VELOPHARYNGEAL INCOMPETENCE

Objective. Conotruncal cardiac anomalies frequently occur in patients with DiGeorge or velocardiofacial syndrome. Additionally, these patien ts may have overt or submucousal cleft palate, as well as velopharynge al incompetence (VPI). Previous studies have demonstrated that the maj ority of these patients have a submicroscopic deletion of chromosome 2 2q11.2. We hypothesized that a subpopulation of newborns and children with congenital heart defects caused by a 22q11.2 deletion are at a hi gh risk for having unrecognized palatal abnormalities. Therefore, we p roposed to evaluate a cohort of patients with conotruncal cardiac malf ormations associated with a 22q11.2 deletion to determine the frequenc y of palatal abnormalities. Methods. We identified 14 deletion-positiv e patients with congenital cardiac defects who had no overt cleft pala te. Of the 14 patients evaluated for the 22q11.2 deletion, 8 patients were recruited from a previous study looking for deletions among patie nts with isolated conotruncal cardiac anomalies. Informed consent was obtained in these cases. The remaining patients had the deletion study on a clinical basis, ie, conotruncal cardiac defect and an absent thy mus, immunodeficiency, or minor dysmorphia appreciated by the clinical geneticist. These patients were evaluated by a plastic surgeon and sp eech pathologist looking for more subtle palatal anomalies such as a s ubmucousal cleft palate, absence of the musculous uvuli, and VPI. Some patients underwent videofluoroscopy or nasendoscopy depending on thei r degree of symptoms and age. VPI was not ruled out until objective ev aluation by a speech pathologist and plastic surgeon was obtained. In addition, the child had to be old enough to provide an adequate speech sample. Results. Of the 14 patients evaluated, 6 patients older than 1 year were found to have VPI. It is noteworthy that 3 of these patien ts were older than 5 years and had remained unrecognized until this st udy. The remaining 6 patients had inconclusive studies based on their age (younger than 26 months) and their inability to participate in ade quate speech evaluations. Two of these patients, however, had historie s of nasal regurgitation suggesting VPI and, in addition, had incomple te closure of the velopharyngeal mechanism during crying and swallowin g observed during nasendoscopic examination-consistent with the diagno sis of VPI. Thus, 8 of 14 patients evaluated had evidence of VPI by hi story and examination. The remaining 6 patients will require further s tudy when they are older before a definitive palatal diagnosis can be made. Conclusions. A significant number of patients with a 22q11.2 del etion in a cardiac clinic may have unrecognized palatal problems. Reco gnition of such abnormalities will afford patients the opportunity for intervention as needed, ie, speech therapy and/or surgical interventi on. Notably, two of our patients with findings suggesting VPI were inf ants and will, therefore, be afforded the opportunity for close follow -up and early intervention. Furthermore, three school-aged children ha d palatal abnormalities that were unrecognized until this study. Thus, we recommend 22q11.2 deletion studies in patients with conotruncal ca rdiac malformations, followed by extensive palatal and speech evaluati ons when a deletion is present.