Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion.

[22q11.2 deletion syndrome]

Background : To alert for the diagnosis of the 22 q 11 .2 deletion syndrome (22 q 11 .2 DS ) in patients with congenital heart disease (CHD ). Objective : To describe the main CHDs , as well as phenotypic , metabolic and immunological findings in a series of 60 patients diagnosed with 22 q 11 .2 DS . Methods : The study included 60 patients with 22 q 11 .2 DS evaluated between 2007 and 2013 (M :F =1 .3 , age range 14 days to 20 years and 3 months ) at a pediatric reference center for primary immunodeficiencies . The diagnosis was established by detection of the 22 q 11 .2 microdeletion using FISH (n = 18 ) and /or MLPA (n = 42 ), in association with clinical and laboratory information . Associated CHDs , progression of phenotypic facial features , hypocalcemia and immunological changes were analyzed . Results : CHDs were detected in 77 % of the patients and the most frequent type was tetralogy of Fallot (38 .3 %). Surgical correction of CHD was performed in 34 patients . Craniofacial dysmorphisms were detected in 41 patients : elongated face (60 %) and /or elongated nose (53 .3 %), narrow palpebral fissure (50 %), dysplastic , overfolded ears (48 .3 %), thin lips (41 .6 %), elongated fingers (38 .3 %) and short stature (36 .6 %). Hypocalcemia was detected in 64 .2 % and decreased parathyroid hormone (PTH ) level in 25 .9 %. Decrease in total lymphocytes , CD 4 and CD 8 counts were present in 40 %, 53 .3 % and 33 .3 %, respectively . Hypogammaglobulinemia was detected in one patient and decreased concentrations of immunoglobulin M (IgM ) in two other patients . Conclusion : Suspicion for 22 q 11 .2 DS should be raised in all patients with CHD associated with hypocalcemia and /or facial dysmorphisms , considering that many of these changes may evolve with age . The 22 q 11 .2 microdeletion should be confirmed by molecular testing in all patients .

Diseases
Validation

Diseases presenting "facial dysmorphisms" symptom

22q11.2 deletion syndrome

cohen syndrome

gm1 gangliosidosis

kabuki syndrome

wolf-hirschhorn syndrome

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