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Hypoplastic left heart syndrome in patients with Kabuki syndrome

Grace C Kung1, Philip M Chang, Mark S Sklansky

  • 1Division 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

Pediatric Cardiology
|December 8, 2009
PubMed

Insights

Kabuki syndrome is linked to heart defects. This study details three Kabuki syndrome patients with hypoplastic left heart syndrome, expanding the known cardiac issues associated with this rare genetic disorder.

Area of Science:

  • Genetics
  • Cardiology
  • Pediatrics

Background:

  • Kabuki syndrome is a rare genetic disorder with a known association with congenital heart defects.
  • Common cardiac anomalies include shunt lesions, conotruncal abnormalities, and arch obstruction.

Observation:

  • This report presents a series of three pediatric patients diagnosed with both Kabuki syndrome and hypoplastic left heart syndrome.
  • Hypoplastic left heart syndrome represents a severe spectrum of left-sided obstructive cardiac lesions.

Findings:

  • The observed cases expand the spectrum of cardiac phenotypes associated with Kabuki syndrome.
  • This series highlights the occurrence of severe left-sided obstructive lesions in conjunction with Kabuki syndrome.

Implications:

  • Understanding this association can improve early diagnosis and management of cardiac complications in Kabuki syndrome patients.
  • Further research is warranted to elucidate the specific genetic and molecular mechanisms linking Kabuki syndrome to hypoplastic left heart syndrome.

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