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Certain conotruncal defects require chromosome deletion syndrome screening
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Cardiology 2012
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 Children’s 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 (n=91).
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 Children’s Hospital in Philadelphia, told Cardiology Today. – by Casey Murphy
For more information:
- Peyvandi S. Abstract #434. Presented at: The 16th Annual Update on Pediatric and Congenital Cardiovascular Disease; Feb. 22-26, 2012; Orlando, Fla.
Disclosure: Dr. Peyvandi reports no relevant financial disclosures.
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