Ontology highlight
ABSTRACT:
SUBMITTER: Nagel B
PROVIDER: S-EPMC3490829 | biostudies-literature | 2012
REPOSITORIES: biostudies-literature
Nagel Bert B Gruber-Sedlmayr Ursula U Uhrig Sabine S Stöllberger Claudia C Klopocki Eva E Finsterer Josef J
BMC medical genetics 20120725
<h4>Background</h4>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.<h4>Case presentation</h4>A unique combination of LVHT, atrial septal defect, pulmonary valve stenosis, aortic stenosis, epilepsy and minor facial anoma ...[more]