Left ventricular non-compaction revealed by aortic regurgitation due to Kawasaki disease in a boy with LDB3 mutation

Pediatr Int. 2016 Aug;58(8):797-800. doi: 10.1111/ped.12983.

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.

Keywords: Kawasaki disease; LIM domain binding protein 3; aortic valve regurgitation; cypher/Z-band alternatively spliced PDZ-motif protein; left ventricular non-compaction.

Publication types

  • Case Reports

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Adaptor Proteins, Signal Transducing / metabolism
  • Aortic Valve Insufficiency / complications*
  • Aortic Valve Insufficiency / diagnosis
  • DNA / genetics*
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Echocardiography
  • Heart Ventricles / diagnostic imaging*
  • Heart Ventricles / physiopathology
  • Humans
  • Infant
  • LIM Domain Proteins / genetics*
  • LIM Domain Proteins / metabolism
  • Male
  • Mucocutaneous Lymph Node Syndrome / complications*
  • Mucocutaneous Lymph Node Syndrome / genetics
  • Mucocutaneous Lymph Node Syndrome / metabolism
  • Ventricular Dysfunction, Left / diagnosis*
  • Ventricular Dysfunction, Left / etiology

Substances

  • Adaptor Proteins, Signal Transducing
  • LDB3 protein, human
  • LIM Domain Proteins
  • DNA