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Erschienen in: Pediatric Cardiology 7/2010

01.10.2010 | Letter to the Editor

Hypoplastic Left Heart Syndrome in Patients With Kabuki Syndrome

verfasst von: M. Cristina Digilio, Anwar Baban, Bruno Marino, Bruno Dallapiccola

Erschienen in: Pediatric Cardiology | Ausgabe 7/2010

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Excerpt

To the Editor, …
Literatur
1.
Zurück zum Zitat 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 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
2.
Zurück zum Zitat 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 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
3.
Zurück zum Zitat 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 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
4.
Zurück zum Zitat Digilio MC, Marino B, Toscano A, Giannotti A, Dallapiccola B (2001) Congenital heart defects in Kabuki sindrome. Am J Med Genet 100:269–274CrossRefPubMed Digilio MC, Marino B, Toscano A, Giannotti A, Dallapiccola B (2001) Congenital heart defects in Kabuki sindrome. Am J Med Genet 100:269–274CrossRefPubMed
5.
Zurück zum Zitat 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 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
6.
Zurück zum Zitat 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 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
7.
Zurück zum Zitat 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 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
8.
Zurück zum Zitat Kung GC, Chang PM, Sklansky MS, Randolph LM (2010) Hypoplastic left heart syndrome in patients with Kabuki syndrome. Pediatr Cardiol 31:138–141CrossRefPubMed Kung GC, Chang PM, Sklansky MS, Randolph LM (2010) Hypoplastic left heart syndrome in patients with Kabuki syndrome. Pediatr Cardiol 31:138–141CrossRefPubMed
9.
Zurück zum Zitat Lin AE, Botto LD (2003) Cardiovascular malformations (CVMs) in Kabuki syndrome: Practical, hierarchical and frequency-based analysis. Proc Greenwood Genet Ctr 22:73–74 Lin AE, Botto LD (2003) Cardiovascular malformations (CVMs) in Kabuki syndrome: Practical, hierarchical and frequency-based analysis. Proc Greenwood Genet Ctr 22:73–74
10.
Zurück zum Zitat 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 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
11.
Zurück zum Zitat 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 42:1650–1655CrossRefPubMed 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 42:1650–1655CrossRefPubMed
12.
Zurück zum Zitat 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 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
13.
Zurück zum Zitat 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 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
14.
Zurück zum Zitat 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 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
15.
Zurück zum Zitat 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 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
16.
Zurück zum Zitat 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 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
17.
Zurück zum Zitat Sybert VP (2005) Turner syndrome. In: Cassidy SB, Allanson JE (eds) Management of genetic syndromes. Wiley, Hoboken, NJ, pp 589–605 Sybert VP (2005) Turner syndrome. In: Cassidy SB, Allanson JE (eds) Management of genetic syndromes. Wiley, Hoboken, NJ, pp 589–605
18.
Zurück zum Zitat 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 74:93–105CrossRefPubMed 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 74:93–105CrossRefPubMed
19.
Zurück zum Zitat 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:171–179CrossRefPubMed 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:171–179CrossRefPubMed
Metadaten
Titel
Hypoplastic Left Heart Syndrome in Patients With Kabuki Syndrome
verfasst von
M. Cristina Digilio
Anwar Baban
Bruno Marino
Bruno Dallapiccola
Publikationsdatum
01.10.2010
Verlag
Springer-Verlag
Erschienen in
Pediatric Cardiology / Ausgabe 7/2010
Print ISSN: 0172-0643
Elektronische ISSN: 1432-1971
DOI
https://doi.org/10.1007/s00246-010-9773-y

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