Hypoplastic Left Heart Syndrome Study

To understand the genetic etiology of hypoplastic left heart syndrome (HLHS), patients with HLHS were consented and recruited, with blood drawn for DNA extraction and exome sequencing. Using the exome sequencing dataset obtained, rare coding sequence variants were recovered and enrichment analysis was carried out to identify genes and pathways that are likely to contribute to HLHS. ]]>
Inclusion Criteria: Case: Hypoplastic left heart syndrome. It is defined by significant underdevelopment of the components of the left heart and the aorta, including the left ventricular cavity and mass. Control: 95 ethnically matched human CEU control subjects from the 1000 genomes project. ]]>