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Pediatric Cardiology
Published in: Pediatric Cardiology 7/2010

01-10-2010 | Letter to the Editor

Hypoplastic Left Heart Syndrome in Patients With Kabuki Syndrome

Authors: M. Cristina Digilio, Anwar Baban, Bruno Marino, Bruno Dallapiccola

Published in: Pediatric Cardiology | Issue 7/2010

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Excerpt

To the Editor, …
Literature
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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:265–272CrossRefPubMed
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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–e7PubMed
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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 479:173–186PubMed
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Digilio MC, Marino B, Toscano A, Giannotti A, Dallapiccola B (2001) Congenital heart defects in Kabuki sindrome. Am J Med Genet 100:269–274CrossRefPubMed
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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 41:2072–2076CrossRefPubMed
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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
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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:51–61CrossRefPubMed
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Kung GC, Chang PM, Sklansky MS, Randolph LM (2010) Hypoplastic left heart syndrome in patients with Kabuki syndrome. Pediatr Cardiol 31:138–141CrossRefPubMed
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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:180–186CrossRefPubMed
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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 79:475–478CrossRefPubMed
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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:2816–2821CrossRefPubMed
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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 29:820–822CrossRefPubMed
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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 11:714–725CrossRefPubMed
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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:e10855CrossRefPubMed
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Metadata
Title
Hypoplastic Left Heart Syndrome in Patients With Kabuki Syndrome
Authors
M. Cristina Digilio
Anwar Baban
Bruno Marino
Bruno Dallapiccola
Publication date
01-10-2010
Publisher
Springer-Verlag
Published in
Pediatric Cardiology / Issue 7/2010
Print ISSN: 0172-0643
Electronic ISSN: 1432-1971
DOI
https://doi.org/10.1007/s00246-010-9773-y

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