Skip to main content
Erschienen in: Pediatric Cardiology 4/2008

01.07.2008 | Case Report

A Novel Constellation of Cardiac Findings for Kabuki Syndrome: Hypoplastic Left Heart Syndrome and Partial Anomalous Pulmonary Venous Drainage

verfasst von: Raveen Shahdadpuri, Sally Ann Lynch, H. Murchan, Colin J. McMahon

Erschienen in: Pediatric Cardiology | Ausgabe 4/2008

Einloggen, um Zugang zu erhalten

Abstract

This report describes the case of a child with Kabuki syndrome, hypoplastic left heart syndrome, and right-sided partial anomalous pulmonary venous drainage to the inferior vena cava. The child underwent successful Norwood and Glenn palliative procedures. At the age of 9 months, the genetic condition was recognized. This represents the first report describing this combination of findings for Kabuki syndrome.
Literatur
1.
Zurück zum Zitat Digilio MC, Marino B, Toscano A et al (2001) Congenital heart defects in Kabuki syndrome. Am J Med Genet 100:269–274PubMedCrossRef Digilio MC, Marino B, Toscano A et al (2001) Congenital heart defects in Kabuki syndrome. Am J Med Genet 100:269–274PubMedCrossRef
2.
Zurück zum Zitat Galan-Gomez E, Cardesa-Garcia JJ, Campo-Sampedro FM et al (1995) Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children. Am J Med Genet 59:276–282PubMedCrossRef Galan-Gomez E, Cardesa-Garcia JJ, Campo-Sampedro FM et al (1995) Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children. Am J Med Genet 59:276–282PubMedCrossRef
3.
Zurück zum Zitat Hughes HE, Davies SJ (1994) Coarctation of the aorta in Kabuki syndrome. Arch Dis Child 70:512–514PubMed Hughes HE, Davies SJ (1994) Coarctation of the aorta in Kabuki syndrome. Arch Dis Child 70:512–514PubMed
4.
Zurück zum Zitat Kawame H, Hannibal MC, Hudgins L et al (1999) Phenotypic spectrum and management issues in Kabuki syndrome. J Pediatr 134:480–485PubMedCrossRef Kawame H, Hannibal MC, Hudgins L et al (1999) Phenotypic spectrum and management issues in Kabuki syndrome. J Pediatr 134:480–485PubMedCrossRef
5.
Zurück zum Zitat Kuroki Y, Suzuki Y, Chyo H et al (1981) A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. J Pediatr 99:570–573PubMedCrossRef Kuroki Y, Suzuki Y, Chyo H et al (1981) A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. J Pediatr 99:570–573PubMedCrossRef
6.
Zurück zum Zitat Matsumoto N, Niikawa N (2003) Kabuki make-up syndrome: a review. Am J Med Genet 117:57–65CrossRef Matsumoto N, Niikawa N (2003) Kabuki make-up syndrome: a review. Am J Med Genet 117:57–65CrossRef
7.
Zurück zum Zitat McMahon CJ, Reardon W (2006) The spectrum of congenital cardiac malformations encountered in six children with Kabuki syndrome. Cardiol Young 16:30–33PubMedCrossRef McMahon CJ, Reardon W (2006) The spectrum of congenital cardiac malformations encountered in six children with Kabuki syndrome. Cardiol Young 16:30–33PubMedCrossRef
8.
Zurück zum Zitat Niikawa N, Matsuura N, Fukushima Y et al (1981) Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr 99:565–569PubMedCrossRef Niikawa N, Matsuura N, Fukushima Y et al (1981) Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr 99:565–569PubMedCrossRef
9.
Zurück zum Zitat Niikawa N, Kuroki Y, Kajii T et al (1988) Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. Am J Med Genet 31:565–589PubMedCrossRef Niikawa N, Kuroki Y, Kajii T et al (1988) Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. Am J Med Genet 31:565–589PubMedCrossRef
10.
Zurück zum Zitat Ohdo S, Madokoro H, Sonoda T et al (1985) Kabuki make-up syndrome (Niikawa-Kuroki syndrome) associated with congenital heart disease. J Med Genet 22:126–127PubMedCrossRef Ohdo S, Madokoro H, Sonoda T et al (1985) Kabuki make-up syndrome (Niikawa-Kuroki syndrome) associated with congenital heart disease. J Med Genet 22:126–127PubMedCrossRef
11.
Zurück zum Zitat Schrander-Stumpel CT, Spruyt L, Curfs LM et al (2005) Kabuki syndrome: clinical data in 20 patients, literature review, and further guidelines for preventive management. Am J Med Genet 132:234–243CrossRef Schrander-Stumpel CT, Spruyt L, Curfs LM et al (2005) Kabuki syndrome: clinical data in 20 patients, literature review, and further guidelines for preventive management. Am J Med Genet 132:234–243CrossRef
Metadaten
Titel
A Novel Constellation of Cardiac Findings for Kabuki Syndrome: Hypoplastic Left Heart Syndrome and Partial Anomalous Pulmonary Venous Drainage
verfasst von
Raveen Shahdadpuri
Sally Ann Lynch
H. Murchan
Colin J. McMahon
Publikationsdatum
01.07.2008
Verlag
Springer-Verlag
Erschienen in
Pediatric Cardiology / Ausgabe 4/2008
Print ISSN: 0172-0643
Elektronische ISSN: 1432-1971
DOI
https://doi.org/10.1007/s00246-008-9197-0

Weitere Artikel der Ausgabe 4/2008

Pediatric Cardiology 4/2008 Zur Ausgabe

Neu im Fachgebiet Kardiologie

Update Kardiologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.