Congenital Heart Disease study published in Nature!

The strategy used to profile pediatric CHD cardiac tissue and the previously published datasets used for age scoring. Flash-frozen cardiac tissue collected from pediatric patients was used for single-cell genomic profiling, histology, and imaging.

Our paper “Integrated multiomic characterization of congenital heart disease“ is newly published in Nature! In this landmark study, we performed comprehensive genomic analyses of pediatric congenital heart disease (CHD) patient hearts in order to develop a cellular atlas of CHD. We uncovered key molecular insights into CHDs such as Hypoplastic left heart syndrome (HLHS), Tetralogy of Fallot (TOF) and dilated (DCM) and hypertrophic (HCM) cardiomyopathies.  In this work, we identified unique genomic properties of heart muscle cells and immune systems of CHD patients.

The impact and clinical implications of this study are immense. Given the rarity of pediatric heart samples to interrogate, our molecular findings provide a clear avenue for clinician-scientists to develop novel and precise CHD therapies in the very near future. Congratulations go out to Dr. Matthew Hill who led these investigations and to all of our collaborators at Baylor College of Medicine (BCM), Texas Heart Institute (THI), and Texas Children’s Hospital for this seminal work!

To access this article, please click this link.

Relevant press links are below:

Story and interview with Dr. Martin by Helio Cardiology.

THI press releases: multi-institutional press release and companion story.

BCM press release: please click here.

To read the PR Newswire, please click here.