Hostname: page-component-586b7cd67f-gb8f7 Total loading time: 0 Render date: 2024-11-23T08:56:47.018Z Has data issue: false hasContentIssue false
  • English
  • Français

The spectrum of congenital cardiac malformations encountered in six children with Kabuki syndrome

Published online by Cambridge University Press:  03 February 2006

Colin J. McMahon  and
William Reardon
Colin J. McMahon
Affiliation:
Department of Pediatric Cardiology, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland
William Reardon
Affiliation:
National Genetics Unit, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland
Get access Rights & Permissions [Opens in a new window]

Abstract

We investigated the prevalence and forms of congenital cardiac malformations in six children with Kabuki syndrome. There were three girls and three boys, diagnosed at a median age of 1.7 years, with a range from 0.7 to 11.1 years. Cardiac lesions were present in five children (83%), specifically complete transposition, tetralogy of Fallot, coarctation of the aorta, ventricular septal defect, and patency of the arterial duct. Characteristic dysmorphic findings were noted in all patients, as well as a strong predisposition to severe problems with feeding in the neonatal period, and developmental delay. Cardiologists should be alert to this syndrome in children who present with the aforementioned constellation of findings, as patients with mild expression of Kabuki syndrome may go unrecognized for a considerable time.

Keywords

Geneticstranspositionventricular septal defect
Type
Original Article
Information
Cardiology in the Young , Volume 16 , Issue 1 , January 2006 , pp. 30 - 33
Copyright
© 2006 Cambridge University Press

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T. Kabuki-make up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears and postnatal growth deficiency. J Pediatr 1981; 99: 565–569.Google Scholar
Kuroki Y, Suzuki Y, Chyo H, Hata A, Matsui I. 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 1981; 99: 570–573.Google Scholar
Ohdo S, Madokoro H, Sonoda T, Nishiguchi T, Kawaguchi K, Hayaka K. Kabuki make-up syndrome (Niikawa-Kuroki) syndrome associated with congenital heart disease. J Med Genet 1985; 22: 126–127.Google Scholar
Digilio MC, Marino B, Toscano A, Giannotti A, Dallapiccola B. Congenital heart defects in Kabuki syndrome. Am J Med Genet 2001; 100: 269–274.Google Scholar
Hughes HE, Davies SJ. Coarctation of the aorta in Kabuki syndrome. Archives Dis Child 1994; 70: 512–514.Google Scholar
Kawame H, Hannibal MC, Hudgins L, Pagon RA. Phenotypic spectrum and management issues in Kabuki syndrome. J Pediatr 1999; 134: 480–485.Google Scholar
Schrander-Stumpel CT, Spruyt L, Curfs LM, Defloor T, Schrander JJ. Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management. Am J Med Genet 2005; 132: 234–243.Google Scholar
Armstrong L, Abd El Moneim A, Aleck K, et al. Further delineation of Kabuki syndrome in 48 well-defined new individuals. Am J Med Genet 2005; 132: 265–272.Google Scholar
Milunsky JM, Huang XL. Unmasking Kabuki syndrome: chromosome 8p22–8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH. Clin Genet 2003; 64: 509–516.Google Scholar
Hoffman JD, Zhang Y, Greshock J, et al. Array based CGH and FISH fail to confirm duplication of 8p22–p23.1 in association with Kabuki syndrome. J Med Genet 2005; 42: 49–53.Google Scholar
Turner C, Lachlan K, Amerasinghe N, et al. Kabuki syndrome: new ocular findings but no evidence of 8p22–p23.1 duplications in a clinically defined cohort. Eur J Hum Genet 2005; 13; 716–720.Google Scholar
McGinniss MJ, Brown DH, Burke LW, Mascarello JT, Jones MC. Ring chromosome X in a child with manifestations of Kabuki syndrome. Am J Med Genet 1997; 70: 37–42.Google Scholar
Tsukuhara M, Kuroki Y, Imizumi K, Miyazawa Y, Matsuo K. Dominant inheritance of Kabuki-make up syndrome. Am J Med Genet 1997; 73: 19–23.Google Scholar
Powell HW, Hart PE, Sisodiya SM. Epilepsy and perisylvian polymicrogyria in a patient with Kabuki syndrome. Dev Med Child Neurol 2003; 45: 841–843.Google Scholar
Ogawa A, Yasumoto S, Tomoda Y, Ohfu M, Mitsudome A, Kuroki Y. Favorable seizure outcome in Kabuki make-up syndrome associated with epilepsy. J Child Neurol 2003; 18: 549–551.Google Scholar
Nobili V, Marcellini M, Devito R, Capolino R, Viola L, Digilio MC. Hepatic fibrosis in Kabuki syndrome. Am J Med Genet 2004; 124: 209–212.Google Scholar
Scherer S, Theile U, Beyer V, Ferrari R, Kreck C, Rister M. Patient with Kabuli syndrome and acute leukemia. Am J Med Genet 2003; 122: 76–79.Google Scholar
Fujishiro M, Ogihara T, Tsukuda K, et al. A case showing an association between type I diabetes mellitus and Kabuki syndrome. Diabetes Res Clin Pract 2003; 60: 25–31.Google Scholar