Hypoplastic left heart syndrome in patients with Kabuki syndrome.
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.
Kung
Grace C
GC
Division of Cardiology, USC Keck School of Medicine, Children's Hospital Los Angeles, 4650 Sunset Boulevard, MS #34, Los Angeles, CA 90027, USA. gkung@chla.usc.edu
Chang
Philip M
PM
Sklansky
Mark S
MS
Randolph
Linda M
LM
D000015:Abnormalities, Multiple; D002658:Developmental Disabilities; D019066:Facies; D005260:Female; D006801:Humans; D018636:Hypoplastic Left Heart Syndrome; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome