Velocardiofacial syndrome in Mexican patients: Unusually high prevalence of congenital heart disease

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• 作者：Candy Sue M&aacute ; rquez-&Aacute ; vila^a ; ^{candymarqueza@prodigy.net.mx" class="auth_mail" title="E-mail the corresponding author} ; Alfredo Vizcaí ; no-Alarcó ; n^b ; ^{avizca34@hotmail.com" class="auth_mail" title="E-mail the corresponding author} ; Constanza Garcí ; a-Delgado^c ; ^{constanzagarciadelgado@yahoo.com" class="auth_mail" title="E-mail the corresponding author} ; Paulina Marí ; a Nú ; ñ ; ez-Martí ; nez^c ; ^{pau_nunez@hotmail.com" class="auth_mail" title="E-mail the corresponding author} ; Francisco Flores-Ramí ; rez^c ; ^{franciscofloresramirez49@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Alejandra del Pilar Reyes-de la Rosa^c ; ^{areyesdelarosa@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Paola Mendelsberg-Fishbein^c ; ^{paola_m84@yahoo.com" class="auth_mail" title="E-mail the corresponding author} ; Diana Ibarra-Grajeda^a ; ^{dig79@hotmail.com" class="auth_mail" title="E-mail the corresponding author} ; Patricia Medina-Bravo^d ; ^{drapatty_75@hotmail.com" class="auth_mail" title="E-mail the corresponding author} ; Norma Balderr&aacute ; bano-Saucedo^b ; ^{balderrabano_6@yahoo.es" class="auth_mail" title="E-mail the corresponding author} ; Salvador Esteva-Solsona^d ; ^{esteva.endocrino@yahoo.com" class="auth_mail" title="E-mail the corresponding author} ; Luz del Carmen M&aacute ; rquez-Quiró ; z^c ; ^{marquezquiroz@yahoo.com.mx" class="auth_mail" title="E-mail the corresponding author} ; Arturo Flores-Cuevas^c ; ^{arturocuevas_14@yahoo.com" class="auth_mail" title="E-mail the corresponding author} ; Rocí ; o S&aacute ; nchez-Urbina^c ; ^{rs_urbina@yahoo.com.mx" class="auth_mail" title="E-mail the corresponding author} ; Ariadna Berenice Morales-Jimé ; nez^c ; ^{ariadnamorales@ciencias.unam.mx" class="auth_mail" title="E-mail the corresponding author} ; Nayely Garibay-Nieto^d ; ^{gngaribay@hotmail.com" class="auth_mail" title="E-mail the corresponding author} ; Jesú ; s Del Bosque-Garza^e ; ^{drjesusdelbosque@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Dino Pietropaolo-Cienfuegos^f ; ^{dpietro4@hotmail.com" class="auth_mail" title="E-mail the corresponding author} ; Claudia Gutié ; rrez-Camacho^g ; ^{claudia.g.cam@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Leticia Garcí ; a-Morales^d ; ^{letygarcia17@yahoo.com.mx" class="auth_mail" title="E-mail the corresponding author} ; Veró ; nica Fabiola Mor&aacute ; n-Barroso^c ; ^{vfmoran@himfg.edu.mx" class="auth_mail" title="E-mail the corresponding author} ; ^{veronicafabiolamoranbarroso@yahoo.com.mx" class="auth_mail" title="E-mail the corresponding author}
• 关键词：VCFS ; velocardiofacial syndrome ; CHD ; congenital heart defect ; FISH ; fluorescence in situ hybridization ; MLPA ; multiplex ligation-dependent probe amplification ; aCGH ; array-based comparative genomic hybridization ; LCR ; low copy repeats ; CTD ; conotruncal defects ; TF ; Tetralogy of Fallot ; PA ; pulmonary atresia ; PS ; pulmonary stenosis ; TA ; Truncus arteriosus ; IAA ; interrupted aortic arch ; VSD ; ventricular septal defect ; AAA ; aortic arch anomalies ; GH ; growth hormone ; OSCP ; occult submucous cleft pa
• 刊名：International Journal of Pediatric Otorhinolaryngology
• 出版年：2015
• 出版时间：November 2015
• 年：2015
• 卷：79
• 期：11
• 页码：1886-1891
• 全文大小：638 K

文摘

Velocardiofacial syndrome (VCFS) is the most common microdeletion syndrome with an incidence of 1:4000 live births. Its phenotype is highly variable with facial, velopharyngeal, cardiac, endocrine, immunologic and psychiatric abnormalities. It is caused by a microdeletion in chromosome 22q11.2.

Objectives

We present 7 years of experience evaluating patients with VCFS regarding their main clinical characteristics.

Material and methods

The patients included were multidisciplinary evaluated and had a positive FISH analysis for del22q11.2.

Results

A total of 62 patients were assessed, a 34 female/28 male ratio was observed with ages ranging from 9 days to 16 years, all but one patient had typical facial features. A diagnosis of congenital heart disease was established in 97% of the patients; other clinical characteristics were identified with different percentages such as cleft palate, and hypocalcaemia. Three cases had a familial presentation.

Discussion

While the clinical findings of this study were in general terms in keeping with the literature, it is interesting the unexpectedly high percentage of congenital heart disease identified in Mexican children with VCFS that also was the main cause for clinical referral.