Ontology highlight
ABSTRACT:
SUBMITTER: Miszalski-Jamka K
PROVIDER: S-EPMC5665372 | biostudies-literature | 2017 Aug
REPOSITORIES: biostudies-literature
Miszalski-Jamka Karol K Jefferies John L JL Mazur Wojciech W Głowacki Jan J Hu Jianhong J Lazar Monika M Gibbs Richard A RA Liczko Jacek J Kłyś Jan J Venner Eric E Muzny Donna M DM Rycaj Jarosław J Białkowski Jacek J Kluczewska Ewa E Kalarus Zbigniew Z Jhangiani Shalini S Al-Khalidi Hussein H Kukulski Tomasz T Lupski James R JR Craigen William J WJ Bainbridge Matthew N MN
Circulation. Cardiovascular genetics 20170801 4
<h4>Background</h4>Left ventricular noncompaction (LVNC) is a genetically and phenotypically heterogeneous disease and, although increasingly recognized in clinical practice, there is a lack of widely accepted diagnostic criteria. We sought to identify novel genetic causes of LVNC and describe genotype-phenotype correlations.<h4>Methods and results</h4>A total of 190 patients from 174 families with left ventricular hypertrabeculation (LVHT) or LVNC were referred for cardiac magnetic resonance an ...[more]