Patients with certain conotruncal cardiac defects should
be screened in the prenatal/neonatal period for chromosome 22q11.2 deletion
syndrome, a relatively common genetic disorder, new data suggest.
Researchers at The Childrens Hospital of
Philadelphia screened 1,613 patients with a variety of conotruncal defects for
presence of 22q11.2 deletion (22q11del) syndrome. Conotruncal defects found
included tetralogy of Fallot (n=619), ventricular septal defects (n=364),
transposition of the great arteries (n=306), double outlet right ventricle
(n=138), truncus arteriosus (n=93) and interrupted aortic arch type A and B
A 22q11del syndrome was found in 13% of patients with
tetralogy of Fallot, in 35% of patients with truncus arteriosus, in 5% with
conoventricular septal defects and in 56% with interrupted aortic arch type B.
Presence of an arch anomaly increased the risk for 22q11del syndrome; however,
this is still commonly seen in patients with a normal aortic arch, the
researchers said. The chromosome deletion syndrome was not seen in patients
with double outlet right ventricle or transposition of the great arteries,
except with the presence of an arch anomaly.
Screening in the prenatal/neonatal period for a 22q11del
syndrome is warranted in patients with tetralogy of Fallot, truncus arteriosus,
conoventricular septal defects and interrupted aortic arch type B. Patients
with double outlet right ventricle and transposition of the great arteries
should only be screened when an arch anomaly or other syndrome features are
also present. Those with interrupted aortic arch type A and a left arch appear
to be at minimal risk for 22q11del syndrome, the researchers concluded.
We hope that these results will lead to earlier
detection of patients that have this deletion syndrome, which will then create
opportunities for early intervention for some of the extra cardiac anomalies
that we see later in life, such as learning disabilities, developmental delays
and psychiatric disturbances, Shabnam Peyvandi, MD, cardiology
fellow in the division of cardiology at The Childrens Hospital in
Philadelphia, told Cardiology Today. by Casey Murphy
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Disclosure: Dr. Peyvandi reports no relevant