Effect of Copy Number Variants on Outcomes for Infants With Single Ventricle Heart Defects

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  • Abigail S. Carey
    From the Mindich Child Health and Development Institute (A.S.C., J.E., B.D.G.), Departments of Genetics and Genomic Sciences (L.L., T.B., H.M., A.J.S., L.E., B.D.G.) and Pediatrics (B.D.G.), and Health Evidence and Policy (M.K.P.), Icahn School of Medicine at Mount Sinai, New York, NY; Pediatric Cardiology, The Children’s Hospital at Montefiore, Bronx, NY (D.T.H.); Department of Cardiology, Children’s Hospital Boston, Boston, MA (J.W.N.); Department of Cardiac Surgery, Section of Pediatric...
  • Li Liang
    From the Mindich Child Health and Development Institute (A.S.C., J.E., B.D.G.), Departments of Genetics and Genomic Sciences (L.L., T.B., H.M., A.J.S., L.E., B.D.G.) and Pediatrics (B.D.G.), and Health Evidence and Policy (M.K.P.), Icahn School of Medicine at Mount Sinai, New York, NY; Pediatric Cardiology, The Children’s Hospital at Montefiore, Bronx, NY (D.T.H.); Department of Cardiology, Children’s Hospital Boston, Boston, MA (J.W.N.); Department of Cardiac Surgery, Section of Pediatric...
  • Jonathan Edwards
    From the Mindich Child Health and Development Institute (A.S.C., J.E., B.D.G.), Departments of Genetics and Genomic Sciences (L.L., T.B., H.M., A.J.S., L.E., B.D.G.) and Pediatrics (B.D.G.), and Health Evidence and Policy (M.K.P.), Icahn School of Medicine at Mount Sinai, New York, NY; Pediatric Cardiology, The Children’s Hospital at Montefiore, Bronx, NY (D.T.H.); Department of Cardiology, Children’s Hospital Boston, Boston, MA (J.W.N.); Department of Cardiac Surgery, Section of Pediatric...
  • Tracy Brandt
    From the Mindich Child Health and Development Institute (A.S.C., J.E., B.D.G.), Departments of Genetics and Genomic Sciences (L.L., T.B., H.M., A.J.S., L.E., B.D.G.) and Pediatrics (B.D.G.), and Health Evidence and Policy (M.K.P.), Icahn School of Medicine at Mount Sinai, New York, NY; Pediatric Cardiology, The Children’s Hospital at Montefiore, Bronx, NY (D.T.H.); Department of Cardiology, Children’s Hospital Boston, Boston, MA (J.W.N.); Department of Cardiac Surgery, Section of Pediatric...
  • Hui Mei
    From the Mindich Child Health and Development Institute (A.S.C., J.E., B.D.G.), Departments of Genetics and Genomic Sciences (L.L., T.B., H.M., A.J.S., L.E., B.D.G.) and Pediatrics (B.D.G.), and Health Evidence and Policy (M.K.P.), Icahn School of Medicine at Mount Sinai, New York, NY; Pediatric Cardiology, The Children’s Hospital at Montefiore, Bronx, NY (D.T.H.); Department of Cardiology, Children’s Hospital Boston, Boston, MA (J.W.N.); Department of Cardiac Surgery, Section of Pediatric...
  • Andrew J. Sharp
    From the Mindich Child Health and Development Institute (A.S.C., J.E., B.D.G.), Departments of Genetics and Genomic Sciences (L.L., T.B., H.M., A.J.S., L.E., B.D.G.) and Pediatrics (B.D.G.), and Health Evidence and Policy (M.K.P.), Icahn School of Medicine at Mount Sinai, New York, NY; Pediatric Cardiology, The Children’s Hospital at Montefiore, Bronx, NY (D.T.H.); Department of Cardiology, Children’s Hospital Boston, Boston, MA (J.W.N.); Department of Cardiac Surgery, Section of Pediatric...
  • Daphne T. Hsu
    From the Mindich Child Health and Development Institute (A.S.C., J.E., B.D.G.), Departments of Genetics and Genomic Sciences (L.L., T.B., H.M., A.J.S., L.E., B.D.G.) and Pediatrics (B.D.G.), and Health Evidence and Policy (M.K.P.), Icahn School of Medicine at Mount Sinai, New York, NY; Pediatric Cardiology, The Children’s Hospital at Montefiore, Bronx, NY (D.T.H.); Department of Cardiology, Children’s Hospital Boston, Boston, MA (J.W.N.); Department of Cardiac Surgery, Section of Pediatric...
  • Jane W. Newburger
    From the Mindich Child Health and Development Institute (A.S.C., J.E., B.D.G.), Departments of Genetics and Genomic Sciences (L.L., T.B., H.M., A.J.S., L.E., B.D.G.) and Pediatrics (B.D.G.), and Health Evidence and Policy (M.K.P.), Icahn School of Medicine at Mount Sinai, New York, NY; Pediatric Cardiology, The Children’s Hospital at Montefiore, Bronx, NY (D.T.H.); Department of Cardiology, Children’s Hospital Boston, Boston, MA (J.W.N.); Department of Cardiac Surgery, Section of Pediatric...
  • Richard G. Ohye
    From the Mindich Child Health and Development Institute (A.S.C., J.E., B.D.G.), Departments of Genetics and Genomic Sciences (L.L., T.B., H.M., A.J.S., L.E., B.D.G.) and Pediatrics (B.D.G.), and Health Evidence and Policy (M.K.P.), Icahn School of Medicine at Mount Sinai, New York, NY; Pediatric Cardiology, The Children’s Hospital at Montefiore, Bronx, NY (D.T.H.); Department of Cardiology, Children’s Hospital Boston, Boston, MA (J.W.N.); Department of Cardiac Surgery, Section of Pediatric...
  • Wendy K. Chung
    From the Mindich Child Health and Development Institute (A.S.C., J.E., B.D.G.), Departments of Genetics and Genomic Sciences (L.L., T.B., H.M., A.J.S., L.E., B.D.G.) and Pediatrics (B.D.G.), and Health Evidence and Policy (M.K.P.), Icahn School of Medicine at Mount Sinai, New York, NY; Pediatric Cardiology, The Children’s Hospital at Montefiore, Bronx, NY (D.T.H.); Department of Cardiology, Children’s Hospital Boston, Boston, MA (J.W.N.); Department of Cardiac Surgery, Section of Pediatric...
  • Mark W. Russell
    From the Mindich Child Health and Development Institute (A.S.C., J.E., B.D.G.), Departments of Genetics and Genomic Sciences (L.L., T.B., H.M., A.J.S., L.E., B.D.G.) and Pediatrics (B.D.G.), and Health Evidence and Policy (M.K.P.), Icahn School of Medicine at Mount Sinai, New York, NY; Pediatric Cardiology, The Children’s Hospital at Montefiore, Bronx, NY (D.T.H.); Department of Cardiology, Children’s Hospital Boston, Boston, MA (J.W.N.); Department of Cardiac Surgery, Section of Pediatric...
  • Jill A. Rosenfeld
    From the Mindich Child Health and Development Institute (A.S.C., J.E., B.D.G.), Departments of Genetics and Genomic Sciences (L.L., T.B., H.M., A.J.S., L.E., B.D.G.) and Pediatrics (B.D.G.), and Health Evidence and Policy (M.K.P.), Icahn School of Medicine at Mount Sinai, New York, NY; Pediatric Cardiology, The Children’s Hospital at Montefiore, Bronx, NY (D.T.H.); Department of Cardiology, Children’s Hospital Boston, Boston, MA (J.W.N.); Department of Cardiac Surgery, Section of Pediatric...
  • Lisa G. Shaffer
    From the Mindich Child Health and Development Institute (A.S.C., J.E., B.D.G.), Departments of Genetics and Genomic Sciences (L.L., T.B., H.M., A.J.S., L.E., B.D.G.) and Pediatrics (B.D.G.), and Health Evidence and Policy (M.K.P.), Icahn School of Medicine at Mount Sinai, New York, NY; Pediatric Cardiology, The Children’s Hospital at Montefiore, Bronx, NY (D.T.H.); Department of Cardiology, Children’s Hospital Boston, Boston, MA (J.W.N.); Department of Cardiac Surgery, Section of Pediatric...
  • Michael K. Parides
    From the Mindich Child Health and Development Institute (A.S.C., J.E., B.D.G.), Departments of Genetics and Genomic Sciences (L.L., T.B., H.M., A.J.S., L.E., B.D.G.) and Pediatrics (B.D.G.), and Health Evidence and Policy (M.K.P.), Icahn School of Medicine at Mount Sinai, New York, NY; Pediatric Cardiology, The Children’s Hospital at Montefiore, Bronx, NY (D.T.H.); Department of Cardiology, Children’s Hospital Boston, Boston, MA (J.W.N.); Department of Cardiac Surgery, Section of Pediatric...
  • Lisa Edelmann
    From the Mindich Child Health and Development Institute (A.S.C., J.E., B.D.G.), Departments of Genetics and Genomic Sciences (L.L., T.B., H.M., A.J.S., L.E., B.D.G.) and Pediatrics (B.D.G.), and Health Evidence and Policy (M.K.P.), Icahn School of Medicine at Mount Sinai, New York, NY; Pediatric Cardiology, The Children’s Hospital at Montefiore, Bronx, NY (D.T.H.); Department of Cardiology, Children’s Hospital Boston, Boston, MA (J.W.N.); Department of Cardiac Surgery, Section of Pediatric...
  • Bruce D. Gelb
    From the Mindich Child Health and Development Institute (A.S.C., J.E., B.D.G.), Departments of Genetics and Genomic Sciences (L.L., T.B., H.M., A.J.S., L.E., B.D.G.) and Pediatrics (B.D.G.), and Health Evidence and Policy (M.K.P.), Icahn School of Medicine at Mount Sinai, New York, NY; Pediatric Cardiology, The Children’s Hospital at Montefiore, Bronx, NY (D.T.H.); Department of Cardiology, Children’s Hospital Boston, Boston, MA (J.W.N.); Department of Cardiac Surgery, Section of Pediatric...

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<jats:sec> <jats:title>Background—</jats:title> <jats:p>Human genomes harbor copy number variants (CNVs), which are regions of DNA gains or losses. Although pathogenic CNVs are associated with congenital heart disease (CHD), their effect on clinical outcomes is unknown. This study sought to determine whether pathogenic CNVs among infants with single ventricle physiology were associated with inferior neurocognitive and somatic growth outcomes.</jats:p> </jats:sec> <jats:sec> <jats:title>Methods and Results—</jats:title> <jats:p> Genomic DNAs from 223 subjects of 2 National Heart, Lung, and Blood Institute–sponsored randomized clinical trials in infants with single ventricle CHD and 270 controls from The Cancer Genome Atlas project were analyzed for rare CNVs >300 kb using array comparative genomic hybridization. Neurocognitive and growth outcomes at 14 months from the CHD trials were compared among subjects with and without pathogenic CNVs. Putatively pathogenic CNVs, comprising 25 duplications and 6 deletions, had a prevalence of 13.9%, significantly greater than the 4.4% rate of such CNVs among controls. CNVs associated with genomic disorders were found in 13 cases but not in controls. Several CNVs likely to be causative of single ventricle CHD were observed, including aberrations altering the dosage of <jats:italic>GATA4</jats:italic> , <jats:italic>MYH11</jats:italic> , and <jats:italic>GJA5</jats:italic> . Subjects with pathogenic CNVs had worse linear growth, and those with CNVs associated with known genomic disorders had the poorest neurocognitive and growth outcomes. A minority of children with pathogenic CNVs were noted to be dysmorphic on clinical genetics examination. </jats:p> </jats:sec> <jats:sec> <jats:title>Conclusions—</jats:title> <jats:p>Pathogenic CNVs seem to contribute to the cause of single ventricle forms of CHD in ≥10% of cases and are clinically subtle but adversely affect outcomes in children harboring them.</jats:p> </jats:sec>

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