Under-recognition of 22q11.2 deletion in adult Chinese patients with conotruncal anomalies: implications in transitional care.

[22q11.2 deletion syndrome]

22 q 11 .2 deletion syndrome (22 q 11 .2 DS ) is a multi-systemic disorder with high phenotypic variability . Under-diagnosis in adults is common and recognition of facial dysmorphic features can be affected by age and ethnicity . This study aims to determine the prevalence of undiagnosed 22 q 11 .2 DS in adult Chinese patients with conotruncal anomalies and to delineate their facial dysmorphisms and extra -cardiac manifestations . We recruited consecutively 156 patients with conotruncal anomalies in an adult congenital heart disease (CHD ) clinic in Hong Kong and screened for 22 q 11 .2 DS using fluorescence-PCR and fluorescence in -situ hybridization . Assessment for dysmorphic features was performed by a cardiologist at initial screening and then by a clinical geneticist upon result disclosure . Clinical photographs were taken and childhood photographs collected . Eighteen patients (11 .5 %) were diagnosed with 22 q 11 .2 DS , translating into 1 previously unrecognized diagnosis of 22 q 11 .2 DS in every 10 adult patients with conotruncal anomalies . While dysmorphic features were detected by our clinical geneticist in all patients , only two -thirds were considered dysmorphic by our cardiologist upon first assessment . Evolution of facial dysmorphic features was noted with age . Extra -cardiac manifestations included velopharyngeal incompetence or cleft palate (44 %), hypocalcemia (39 %), neurodevelopmental anomalies (33 %), thrombocytopenia (28 %), psychiatric disorders (17 %), epilepsy (17 %) and hearing loss (17 %). We conclude that under-diagnosis of 22 q 11 .2 DS in Chinese adults with conotruncal defects is common and facial dysmorphic features may not be reliably recognized in the setting of adult CHD clinic , referral for genetic evaluation and molecular testing for 22 q 11 .2 DS should be offered to patients with conotruncal defects .

Diseases
Validation

Diseases presenting "epilepsy" symptom

22q11.2 deletion syndrome

adrenomyeloneuropathy

alexander disease

canavan disease

classical phenylketonuria

cohen syndrome

cowden syndrome

familial hypocalciuric hypercalcemia

gm1 gangliosidosis

hereditary cerebral hemorrhage with amyloidosis

hirschsprung disease

homocystinuria without methylmalonic aciduria

kabuki syndrome

locked-in syndrome

lymphangioleiomyomatosis

monosomy 21

neonatal adrenoleukodystrophy

pendred syndrome

phenylketonuria

proteus syndrome

pyruvate dehydrogenase deficiency

sneddon syndrome

wolf-hirschhorn syndrome

zellweger syndrome

This symptom has already been validated