Left ventricular hypertrabeculation/noncompaction with epilepsy, other heart defects, minor facial anomalies and new copy number variants
1 Department of Pediatric Cardiology, Medical University Graz, University Children’s Hospital, Auenbruggerplatz 30, A-8036 Graz, Austria
2 Department of Pediatrics (U. Gruber-Sedlmayr), Medical University Graz, Auenbruggerplatz 30, A-8036 Graz, Austria
3 Institute of Human Genetics, Medical University of Graz, Harrachgasse 21/8, A-8010 Graz, Austria
4 Krankenanstalt Rudolfstiftung, Juchgasse 25, A-1030 Wien, Austria
5 Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Augustenburger Platz 1, D-13353 Berlin, Germany
BMC Medical Genetics 2012, 13:60 doi:10.1186/1471-2350-13-60Published: 25 July 2012
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.
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.
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.