Date:2/24/2012

22q11.2 deletion syndrome (22q11del) can result in multiple congenital anomalies including conotruncal cardiac defects. In this single-center study at The Children's Hospital of Philadelphia, researchers tested 1,613 patients with a variety of conotruncal defects for the presence of the deletion. The study team found the 22q11del in 13 percent of patients with tetralogy of Fallot, in 35 percent of patients with truncus arteriosus, in 5 percent of patients with conoventricular septal defects, and in 56 percent of patients with interrupted aortic arch type Bsuggesting that most patients with these particular anomalies should be screened for the deletion during the prenatal or neonatal period. Patients with double outlet right ventricle or transposition of the great arteries should be screened only when an arch anomaly or other syndromic feature is also present. Patients with interrupted aortic arch type A appear to have minimal risk for 22q11del. These findings help to guide cardiac imaging, prenatal and neonatal genetic testing, and counseling in the cardiac population. S. Peyvandi et al, The Children's Hospital of Philadelphia; Refining Screening Strategies for 22q11.2 Deletions in Patients with Conotruncal Defects: Data from 1618 Consecutive Cases

Most Survivors of CHD Who Had ECMO Support Have Normal Neurological Outcomes or Mild Disability at Age Two

Despite established efficacy in children with cardiac disease, reported survival after ECMO support is 40 55 percent while the most recent data from Extracorporeal Life Support Organization (ELSO) show a survival of 48%. ECMO survivors are at risk for significant neurologic injury and an interdisciplinary team is crucial to the prevention and follow-up. In this single-center retrospective review the authors evaluated the outcomes of 95 children with cardiac disease who required ECMO support between 2005 and 2010. Sixty-nine patients (73%) survived to hospital discharge. These patients were
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Contact: Joey McCool Ryan McCool@email.chop.edu 267-258-6735 Children's Hospital of Philadelphia Source:Eurekalert

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