Spatially distinct genetic determinants of aortic dimensions influence risks of aneurysm and stenosis
Background The left ventricular outflow tract (LVOT) and ascending aorta are spatially
complex, with distinct pathologies and embryologic origins. Prior work examined the …
complex, with distinct pathologies and embryologic origins. Prior work examined the …
Unsupervised ensemble-based phenotyping enhances discoverability of genes related to left-ventricular morphology
R Bonazzola, E Ferrante, N Ravikumar, Y Xia… - Nature Machine …, 2024 - nature.com
Recent genome-wide association studies have successfully identified associations between
genetic variants and simple cardiac morphological parameters derived from cardiac …
genetic variants and simple cardiac morphological parameters derived from cardiac …
Convergence of coronary artery disease genes onto endothelial cell programs
Linking variants from genome-wide association studies (GWAS) to underlying mechanisms
of disease remains a challenge,–. For some diseases, a successful strategy has been to …
of disease remains a challenge,–. For some diseases, a successful strategy has been to …
Insights into the Inherited Basis of Valvular Heart Disease
M Yu, N Bouatia-Naji - Current Cardiology Reports, 2024 - Springer
Abstract Purpose of Review Increases in the availability of genetic data and advances in the
tools and methods for their analyses have enabled well-powered genetic association …
tools and methods for their analyses have enabled well-powered genetic association …
Deep learning-enabled analysis of medical images identifies cardiac sphericity as an early marker of cardiomyopathy and related outcomes
Background Quantification of chamber size and systolic function is a fundamental
component of cardiac imaging. However, the human heart is a complex structure with …
component of cardiac imaging. However, the human heart is a complex structure with …
Molecular convergence of risk variants for congenital heart defects leveraging a regulatory map of the human fetal heart
Congenital heart defects (CHD) arise in part due to inherited genetic variants that alter
genes and noncoding regulatory elements in the human genome. These variants are …
genes and noncoding regulatory elements in the human genome. These variants are …
Genetic determinants of the interventricular septum are linked to ventricular septal defects and hypertrophic cardiomyopathy
Background: A large proportion of genetic risk remains unexplained for structural heart
disease involving the interventricular septum (IVS) including hypertrophic cardiomyopathy …
disease involving the interventricular septum (IVS) including hypertrophic cardiomyopathy …
Oligogenic Architecture of Rare Noncoding Variants Distinguishes 4 Congenital Heart Disease Phenotypes
Background: Congenital heart disease (CHD) is highly heritable, but the power to identify
inherited risk has been limited to analyses of common variants in small cohorts. Methods …
inherited risk has been limited to analyses of common variants in small cohorts. Methods …
Low-Salt Diet Regulates the Metabolic and Signal Transduction Genomic Fabrics, and Remodels the Cardiac Normal and Chronic Pathological Pathways
DA Iacobas, H Allen, S Iacobas - Current Issues in Molecular Biology, 2024 - mdpi.com
Low-salt diet (LSD) is a constant recommendation to hypertensive patients, but the genomic
mechanisms through which it improves cardiac pathophysiology are still not fully …
mechanisms through which it improves cardiac pathophysiology are still not fully …
Unsupervised ensemble-based phenotyping helps enhance the discoverability of genes related to heart morphology
R Bonazzola, E Ferrante, N Ravikumar, Y Xia… - arXiv preprint arXiv …, 2023 - arxiv.org
Recent genome-wide association studies (GWAS) have been successful in identifying
associations between genetic variants and simple cardiac parameters derived from cardiac …
associations between genetic variants and simple cardiac parameters derived from cardiac …