Skip to main content

Advertisement

SpringerLink
Log in

Hypoplastic Left Heart Syndrome in Patients With Kabuki Syndrome

  • Letter to the Editor
  • Published:
Pediatric Cardiology Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References

  1. Armstrong L, El Moneim AA, Aleck K, Aughton DJ, Baumann C, Braddock SR et al (2005) Further delineation of Kabuki syndrome in 48 well-defined new individuals. Am J Med Genet 132A:265–272

    Article  PubMed  Google Scholar 

  2. Chen CP, Lin SP, Tsai FJ, Chern SR, Wang W (2008) Kabuki syndrome in a girl with mosaic 45, X/47, XXX and aortic coarctation. Fertil Steril 89:e5–e7

    PubMed  Google Scholar 

  3. Dasgupta C, Martinez AM, Zuppan CW, Shah MM, Bailey LL, Fletcher WH (2001) Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE). Mutat Res 479:173–186

    CAS  PubMed  Google Scholar 

  4. Digilio MC, Marino B, Toscano A, Giannotti A, Dallapiccola B (2001) Congenital heart defects in Kabuki sindrome. Am J Med Genet 100:269–274

    Article  CAS  PubMed  Google Scholar 

  5. Elliott DA, Kirk EP, Yeoh T, Chandar S, McKenzie F, Taylor P et al (2003) Cardiac homeobox gene NKX2.5 mutations and congenital heart disease: Associations with atrial septal defect and hypoplastic left heart syndrome. J Am Coll Cardiol 41:2072–2076

    Article  CAS  PubMed  Google Scholar 

  6. Ferencz C, Loffredo CA, Correa-Villasenor A, Wilson PD (1997) Genetics and environmental risk factors of major cardiovascular malformations. The Baltimore-Washington Infant Study 1981–1989. Futura, Armonk, NY, pp 313–315

    Google Scholar 

  7. Grossfeld PD, Mattina T, Lai Z, Favier R, Jones KL, Cotter F et al (2004) The 11q terminal deletion disorder: A prospective study of 110 cases. Am J Med Genet 129A:51–61

    Article  PubMed  Google Scholar 

  8. Kung GC, Chang PM, Sklansky MS, Randolph LM (2010) Hypoplastic left heart syndrome in patients with Kabuki syndrome. Pediatr Cardiol 31:138–141

    Article  PubMed  Google Scholar 

  9. Lin AE, Botto LD (2003) Cardiovascular malformations (CVMs) in Kabuki syndrome: Practical, hierarchical and frequency-based analysis. Proc Greenwood Genet Ctr 22:73–74

    CAS  Google Scholar 

  10. McBride KL, Pignatelli R, Lewin M, Ho T, Fernbach S, Menesses A et al (2005) Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: segregation, multiplex relative risk, and hereditability. Am J Med Genet 134A:180–186

    Article  PubMed  Google Scholar 

  11. McElhinney DB, Geiger E, Blinder J, Woodrow Benson D, Goldmuntz E (2003) Nkx2.5 mutations in patients with congenital heart disease. J Am Coll Cardiol 42:1650–1655

    Article  CAS  PubMed  Google Scholar 

  12. Phillips HM, Renforth GL, Spallato C, Hearn T, Curtis AR, Craven L et al (2002) Narrowing the critical region within 11q24-qter for hypoplastic left heart and identification of a candidate gene, JAM3, expressed during cardiogenesis. Genomics 79:475–478

    Article  CAS  PubMed  Google Scholar 

  13. Rodriguez L, Diego-Alvarez D, Lorda-Sanchez I, Gallardo FL, Martinez-Fernandez ML, Arroyo-Munoz ME et al (2008) A small and active ring X chromosome in a female with features of Kabuki syndrome. Am J Med Genet 146A:2816–2821

    Article  CAS  PubMed  Google Scholar 

  14. Shahdadpuri R, Lynch SA, Murchen H, McMahon CJ (2008) A novel constellation of cardiac findings for Kabuki syndrome: Hypoplastic left heart syndrome and partial anomalous pulmonary venous drainage. Pediatr Cardiol 29:820–822

    Article  PubMed  Google Scholar 

  15. Shone JD, Sellers RD, Anderson RC, Adams P Jr, Lillehei CW, Edwards JE (1963) The developmental complex of parachute mitral valve, supravalvular ring of the left atrium, subaortic stenosis and coarctation of the aorta. Am J Cardiol 11:714–725

    Article  CAS  PubMed  Google Scholar 

  16. Stevens KN, Hakonarson H, Kim CE, Doevendans PA, Koeleman BPC, Mital S, Raue J et al (2010) Common variation in ISL1 confers genetic susceptibility for human congenital heart disease. PloS One 5:e10855

    Article  PubMed  Google Scholar 

  17. Sybert VP (2005) Turner syndrome. In: Cassidy SB, Allanson JE (eds) Management of genetic syndromes. Wiley, Hoboken, NJ, pp 589–605

    Google Scholar 

  18. Ware SM, Peng J, Zhu L, Fernbach S, Colicos S, Casey B et al (2004) Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. Am J Hum Genet 74:93–105

    Article  CAS  PubMed  Google Scholar 

  19. Wessels MW, Berger RMF, Frohn-Mulder IME, Roos-Hesselink JW, Hoogeboom JJM, Mancini GS et al (2005) Autosomal dominant inheritance of left ventricular outflow tract obstruction. Am J Med Genet 134A:171–179

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Medical Genetics and Pediatric Cardiology, Bambino Gesù Pediatric Hospital, Rome, Italy

    M. Cristina Digilio, Anwar Baban & Bruno Dallapiccola

  2. Department of Pediatrics, Pediatric Cardiology, University La Sapienza, Rome, Italy

    Bruno Marino

Authors
  1. M. Cristina Digilio
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Anwar Baban
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Bruno Marino
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Bruno Dallapiccola
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to M. Cristina Digilio.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Digilio, M.C., Baban, A., Marino, B. et al. Hypoplastic Left Heart Syndrome in Patients With Kabuki Syndrome. Pediatr Cardiol 31, 1111–1113 (2010). https://doi.org/10.1007/s00246-010-9773-y

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00246-010-9773-y

Keywords

Search

Navigation