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Editorial

Heart to heart: challenges and perspectives for genetic research in congenital heart disease

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Pages 655-658 | Published online: 10 Jan 2014

References

  • Khairy P, Ionescu-Ittu R, Mackie AS, Abrahamowicz M, Pilote L, Marelli AJ. Changing mortality in congenital heart disease. J. Am. Coll. Cardiol.56(14), 1149–1157 (2010).
  • Oyen N, Poulsen G, Boyd HA, Wohlfahrt J, Jensen PK, Melbye M. Recurrence of congenital heart defects in families. Circulation120(4), 295–301 (2009).
  • Erdogan F, Larsen LA, Zhang L et al. High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease. J. Med. Genet.45(11), 704–709 (2008).
  • Thienpont B, Mertens L, de RT et al. Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients. Eur. Heart J.28(22), 2778–2784 (2007).
  • Wessels MW, Willems PJ. Genetic factors in non-syndromic congenital heart malformations. Clin. Genet.78(2), 103–123 (2010).
  • Schott JJ, Benson DW, Basson CT et al. Congenital heart disease caused by mutations in the transcription factor NKX2–5. Science281(5373), 108–111 (1998).
  • Oyen N, Poulsen G, Wohlfahrt J, Boyd HA, Jensen PK, Melbye M. Recurrence of discordant congenital heart defects in families. Circ. Cardiovasc. Genet.3(2), 122–128 (2010).
  • Christensen AH, Benn M, Bundgaard H, Tybjaerg-Hansen A, Haunso S, Svendsen JH. Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy. J. Med. Genet.47(11), 736–744 (2010).
  • Cripe L, Andelfinger G, Martin LJ, Shooner K, Benson DW. Bicuspid aortic valve is heritable. J. Am. Coll. Cardiol.44(1), 138–143 (2004).
  • Roessler E, Ouspenskaia MV, Karkera JD et al. Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly. Am. J. Hum. Genet.83(1), 18–29 (2008).
  • De LA, Sarkozy A, Consoli F et al. Familial transposition of the great arteries caused by multiple mutations in laterality genes. Heart96(9), 673–677 (2010).
  • Winston JB, Erlich JM, Green CA et al. Heterogeneity of genetic modifiers ensures normal cardiac development. Circulation121(11), 1313–1321 (2010).
  • Laforest B, Andelfinger G, Nemer M. Loss of GATA5 in mice leads to bicuspid aortic valve. J. Clin. Invest. (2011) (In Press).
  • Andelfinger G. Genetic factors in congenital heart malformation. Clin. Genet.73(6), 516–527 (2008).
  • Ji W, Foo JN, O’Roak BJ et al. Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat. Genet.40(5), 592–599 (2008).
  • Ng SB, Buckingham KJ, Lee C et al. Exome sequencing identifies the cause of a mendelian disorder. Nat. Genet.42(1), 30–35 (2009).
  • Durbin RM, Abecasis GR, Altshuler DL et al. A map of human genome variation from population-scale sequencing. Nature467(7319), 1061–1073 (2010).
  • Ashley EA, Butte AJ, Wheeler MT et al. Clinical assessment incorporating a personal genome. Lancet375(9725), 1525–1535 (2010).
  • Sotoodehnia N, Isaacs A, de Bakker PI et al. Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. Nat. Genet.42(12), 1068–1076 (2010).
  • Holm H, Gudbjartsson DF, Sulem P et al. A rare variant in MYH6 is associated with high risk of sick sinus syndrome. Nat. Genet.43(4), 316–320 (2011).

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