Top

Published in:

01-01-2010 | Case Report

Hypoplastic Left Heart Syndrome in Patients with Kabuki Syndrome

Authors: Grace C. Kung, Philip M. Chang, Mark S. Sklansky, Linda M. Randolph

Published in: Pediatric Cardiology | Issue 1/2010

Abstract

The association of cardiac defects with Kabuki syndrome has been well described. The majority of these defects are isolated shunt lesions, conotruncal abnormalities, or various forms of arch obstruction. This report describes a series of three patients with hypoplastic left heart syndrome and Kabuki syndrome. The series illustrates the full spectrum of left-sided obstructive lesions and expands the phenotype of cardiac defects associated with Kabuki syndrome.

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(6):1826.e5–7CrossRef

Davis D, Davis S, Cotman K, Worley S, Londrico D, Kenny D, Harrison AM (2008) Feeding difficulties and growth delay in children with hypoplastic left heart syndrome versus d-transposition of the great arteries. Pediatr Cardiol 29:328–333CrossRefPubMed

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

Dyamenahalli U, Abraham B, Fontenot E, Prasad V, Imamura M (2007) Pathologic aneurysmal dilation of the ascending aorta and dilation of the main pulmonary artery in patients with Kabuki syndrome: valve-sparing aortic root replacement. Congenital Heart Dis 2:424–428CrossRef

Hughes HE, Davies SJ (1994) Coarctation of the aorta in Kabuki syndrome. Arch Dis Child 70:512–514CrossRefPubMed

McMahon C, Reardon W (2006) The spectrum of congenital cardiac malformations encountered in six children with Kabuki syndrome. Cardiol Young 16:30–33CrossRefPubMed

Moral S, Zuccarino F, Loma-Osorio P (2009) Double aortic arch: an unreported anomaly with Kabuki syndrome. Pediatr Cardiol 30:82–84CrossRefPubMed

Niikawa N, Kuroki Y, Kajii T, Matsuura N, Ishikiriyama S, Tonoki H, Ishikawa N, Yamada Y, Fujita M, Umemoto H et al (1988) Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. Am J Med Genet 31:565–589CrossRefPubMed

Ohdo S, Madokoro H, Sonoda T, Nishiguchi T, Kawaguchi K, Hayakawa K (1985) Kabuki make-up syndrome (Niikawa-Kuroki syndrome) associated with congenital heart disease. J Med Genet 22:126–127CrossRefPubMed

10.

Shahdadpuri R, Lynch SA, Murchan 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

11.

Wang LC, Chiu IS, Wang PJ, Wu MH, Wang JK, Hung YB, Lin SJ (1994) Kabuki make-up syndrome associated with congenital heart disease. Zhonghua Min Guo Xiao Er Ke Yi Xue Za Zhi 35:63–69

12.

Vaux KK, Hudgins L, Bird LM, Roeder E, Curry CJ, Jones M, Jones KL (2005) Neonatal phenotype in Kabuki syndrome. Am J Med Genet 132A:244–247CrossRefPubMed

Title: Hypoplastic Left Heart Syndrome in Patients with Kabuki Syndrome
Authors: Grace C. Kung
Philip M. Chang
Mark S. Sklansky
Linda M. Randolph
Publication date: 01-01-2010
Publisher: Springer-Verlag
Published in: Pediatric Cardiology / Issue 1/2010
Print ISSN: 0172-0643
Electronic ISSN: 1432-1971
DOI: https://doi.org/10.1007/s00246-009-9554-7

ACC 2024 Congress Coverage

Heart Failure Video

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Hypoplastic Left Heart Syndrome in Patients with Kabuki Syndrome

Abstract

ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

Incentivised to exercise

New intervention for STEMI-related cardiogenic shock

» View more highlights on the ACC 2024 congress hub page

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 1/2010

PTPN11 Mutation Associated with Aortic Dilation and Hypertrophic Cardiomyopathy in a Pediatric Patient with Noonan Syndrome

GATA4 Mutations in Chinese Patients with Congenital Cardiac Septal Defects

Late Rupture of the Aorta After Interventional Treatment of a Recoarctation

Intracardiac Echogenic Foci Have No Hemodynamic Significance in the Fetus

Closure of Conduit Fenestration After Extracardiac Fontan Procedure Using Amplatzer Vascular Plug: Comparison with Detachable Coil

From Other Journals

ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

Incentivised to exercise

New intervention for STEMI-related cardiogenic shock

» View more highlights on the ACC 2024 congress hub page