Abstract
Congenital heart diseases (CHDs) are the most common of all birth defects. Congenital heart disease may occur as an isolated malformation or may be part of a syndrome. One of the most common syndromes associated with CHDs is the 22q11.2 microdeletion syndrome, the various conditions associated with del22q11 include DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), conotruncal anomaly face syndrome (CTAFS), and others. The abnormalities associated with this syndrome include parathyroid hypoplasia, thymic hypoplasia, immune defect, cleft palate, and abnormal facies. The cardiac defects are usually derived from conotruncus.The aim of the study was to detect the prevalence and the most common or frequent clinical manifestations of chromosome 22q11.2 microdeletion among children with syndromic congenital heart disease.The study was conducted on 20 children with syndromic CHD presenting to the Menoufiya University Hospitals, Egypt. Their ages ranged from 10days to 12years. Cytogenetic study and fluorescence in situ hybridization (FISH) were performed in the patients. The study revealed that 2 patients were with chromosomal aberrations [one with 46,XY, add (13)(p13) & the other with 47,XX,+13]. In addition, FISH revealed 4 patients (20%) with 22q11.2 microdeletion syndrome. The congenital heart malformations detected in patients with 22q11.2 microdeletion were somewhat unexpected and included VSD, ASD, PDA, and double outlet right ventricle. The most frequent extracardiac features were hypocalcemia, microcephaly, brain atrophy, epicanthus, low set posteriorly rotated ears, micrognathia, and anemia. The extracardiac features were in some cases subtle.It is concluded that 22q11.2 microdeletion is not uncommon and its manifestations are highly variable. This entails that screening for the microdeletion by FISH should be performed in all patients with syndromic CHD especially those with hypocalcemia, microcephaly, brain atrophy, epicanthus, low set ears, posteriorly rotated ears, micrognathia, and anemia. In addition, patients with minor features and those with non-conotruncal heart disease should not be excluded from the screening for 22 microdeletion.
Highlights
Congenital heart disease (CHD) affects about 1% of newborn children and is the leading cause of death in infants under 1 year of age [1]
The study was conducted on 20 children with syndromic congenital heart disease, i.e. congenital heart disease with at least one extracardiac anomaly, they were selected from the Menoufiya University Hospitals, Egypt, during the period from 2007 to 2009
Eight cases (40%) were small for gestational age (SGA) whereas 60% were appropriate for gestational age (AGA)
Summary
Congenital heart disease (CHD) affects about 1% of newborn children and is the leading cause of death in infants under 1 year of age [1]. One of the most common syndromes associated with CHD is 22q11.2 microdeletion syndrome [2]. 22q11DS is the most common microdeletion syndrome in man [3] with a minimum prevalence rate of one in 4000 live births [4]. Over 180 clinical features have been associated with VCFS but there is no single finding or group of findings that occur in all affected individuals. Cardinal features that raise diagnostic suspicion in newborns include cleft palate when seen with conotruncal heart defects, especially if accompanied by hypocalcemia [11]
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