Genetic analysis of right heart structure and function in 40,000 people

JP Pirruccello, P Di Achille, V Nauffal, M Nekoui… - Nature …, 2022 - nature.com
Congenital heart diseases often involve maldevelopment of the evolutionarily recent right
heart chamber. To gain insight into right heart structure and function, we fine-tuned deep …

Using Machine Learning to Elucidate the Spatial and Genetic Complexity of the Ascending Aorta

M Nekoui, JP Pirruccello, P Di Achille, SH Choi… - medRxiv, 2021 - medrxiv.org
Background The left ventricular outflow tract (LVOT) and ascending aorta are spatially
complex, with distinct pathologies and embryologic origins. Prior work examined genetics of …

Genetic determinants of interventricular septal anatomy and the risk of ventricular septal defects and hypertrophic cardiomyopathy

M Yu, AR Harper, M Aguirre, M Pittman, C Tcheandjieu… - medRxiv, 2021 - medrxiv.org
Background The interventricular septum (IVS) plays a primary role in cardiovascular
physiology and a large proportion of genetic risk remains unexplained for structural heart …