title: Left ventricular non-compaction revealed by aortic regurgitation due to Kawasaki disease in a boy with LDB3 mutation.
abstract: Kawasaki disease (KD) is an acute febrile illness of childhood characterized by systemic vasculitis, especially coronary arteritis. Aortic valve regurgitation (AVR) is a relatively common complication. There have been no reports to date of heart failure and left ventricular non-compaction (LVNC) after acute KD, although the precise etiology of this condition remains unclear. A 6-month-old boy with KD was admitted to hospital. Despite high-dose i.v. gammaglobulin for dilation of the coronary artery, moderate AVR appeared, and thereafter he developed heart failure. A rough, dense LV myocardium indicated LVNC. On genetic testing a heterogenous 163G > A substitution changing a valine to isoleucine in LIM domain binding protein 3 (LDB3) was identified. Additional cardiac stress, such as that caused by AVR and/or KD might have triggered cardiac failure in the form of LVNC due to LDB3 mutation.
authors.affiliation: Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Hachiya
authors.affiliation: Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Noriko
authors.initials: N
authors.lastname: Motoki
authors.affiliation: Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Yohei
authors.initials: Y
authors.lastname: Akazawa
authors.affiliation: Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Matsuzaki
authors.affiliation: Department of Pediatrics, Toyama University School of Medicine, Toyama, Japan.
authors.forename: Keiichi
authors.initials: K
authors.lastname: Hirono
authors.affiliation: Legal Medicine, Toyama University School of Medicine, Toyama, Japan.
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Hata
authors.affiliation: Legal Medicine, Toyama University School of Medicine, Toyama, Japan.
authors.forename: Naoki
authors.initials: N
authors.lastname: Nishida
authors.affiliation: Department of Pediatrics, Toyama University School of Medicine, Toyama, Japan.
authors.forename: Fukiko
authors.initials: F
authors.lastname: Ichida
authors.affiliation: Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Kenichi
authors.initials: K
authors.lastname: Koike
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics* / Q000378:metabolism; D001022:Aortic Valve Insufficiency / Q000150:complications* / Q000175:diagnosis; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D004452:Echocardiography; D006352:Heart Ventricles / Q000000981:diagnostic imaging* / Q000503:physiopathology; D006801:Humans; D007223:Infant; D060588:LIM Domain Proteins / Q000235:genetics* / Q000378:metabolism; D008297:Male; D009080:Mucocutaneous Lymph Node Syndrome / Q000150:complications* / Q000235:genetics / Q000378:metabolism; D018487:Ventricular Dysfunction, Left / Q000175:diagnosis* / Q000209:etiology
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C120696:LDB3 protein, human; D060588:LIM Domain Proteins; D004247:DNA
keywords: Kawasaki disease; LIM domain binding protein 3; aortic valve regurgitation; cypher/Z-band alternatively spliced PDZ-motif protein; left ventricular non-compaction