Left-ventricular non-compaction in a patient with monosomy 1p36

Eur J Med Genet. 2007 May-Jun;50(3):233-6. doi: 10.1016/j.ejmg.2007.01.002. Epub 2007 Jan 27.

Abstract

We report on a new-born girl with left ventricular non-compaction (LVNC), dysmorphism and epilepsy. Array-CGH at 1 Mb resolution revealed a deletion of the terminal 4.6 to 5.9 Mb of the short arm of chromosome 1. Cardiac abnormalities such as dilated cardiomyopathy and structural cardiac defects are common findings in patients with monosomy 1p36. This is however the first report describing LVNC in association with the 1p36 deletion syndrome, broadening the spectrum of cardiac anomalies found in association with this syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 1 / genetics*
  • Epilepsy / complications
  • Epilepsy / genetics
  • Female
  • Heart Defects, Congenital / complications
  • Heart Defects, Congenital / genetics*
  • Heart Ventricles / abnormalities
  • Heart Ventricles / diagnostic imaging
  • Humans
  • Infant, Newborn
  • Syndrome
  • Ultrasonography