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 "heart disease" symptom

22q11.2 deletion syndrome

achondroplasia

acute rheumatic fever

adrenal incidentaloma

child syndrome

classical phenylketonuria

cohen syndrome

congenital diaphragmatic hernia

dentinogenesis imperfecta

esophageal adenocarcinoma

fabry disease

familial mediterranean fever

heparin-induced thrombocytopenia

hirschsprung disease

holt-oram syndrome

homocystinuria without methylmalonic aciduria

kabuki syndrome

monosomy 21

omenn syndrome

phenylketonuria

sneddon syndrome

systemic capillary leak syndrome

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

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