title: Left ventricular hypertrabeculation/noncompaction with epilepsy, other heart defects, minor facial anomalies and new copy number variants.
abstract: BACKGROUND
  Left ventricular hypertrabeculation/noncompaction (LVHT) is a cardiac abnormality of unknown etiology which has been described in children as well as in adults with and without chromosomal aberrations. LVHT has been reported in association with various cardiac and extracardiac abnormalities like epilepsy and facial dysmorphism.
  
  
  METHODS
  A unique combination of LVHT, atrial septal defect, pulmonary valve stenosis, aortic stenosis, epilepsy and minor facial anomalies is presented in a 5.5 years old girl. Microarray-based genomic hybridization (array-CGH) detected six previously not described copy number variants (CNVs) inherited from a clinically unaffected father and minimally affected mother, thus, most likely, not clinically significant but rare benign variants.
  
  
  CONCLUSIONS
  Despite this complex phenotype de novo microdeletions or microduplications were not detected by array CGH. Further investigations, such as whole exome sequencing, could reveal point mutations and small indels as the possible cause.
authors: Krankenanstalt Rudolfstiftung, Juchgasse 25, Vienna, Austria.
authors: Bert
authors: B
authors: Nagel
authors: Ursula
authors: U
authors: Gruber-Sedlmayr
authors: Sabine
authors: S
authors: Uhrig
authors: Claudia
authors: C
authors: Stöllberger
authors: Eva
authors: E
authors: Klopocki
authors: Josef
authors: J
authors: Finsterer
mesh_terms: D001024:Aortic Valve Stenosis / Q000175:diagnosis* / Q000235:genetics; D002675:Child, Preschool; D056915:DNA Copy Number Variations; D004827:Epilepsy / Q000175:diagnosis* / Q000235:genetics; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D056830:Isolated Noncompaction of the Ventricular Myocardium / Q000175:diagnosis* / Q000235:genetics; D020411:Oligonucleotide Array Sequence Analysis; D011666:Pulmonary Valve Stenosis / Q000175:diagnosis* / Q000235:genetics