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 …

Genome-wide association analysis reveals insights into the genetic architecture of right ventricular structure and function

N Aung, JD Vargas, C Yang, K Fung, MM Sanghvi… - Nature …, 2022 - nature.com
Right ventricular (RV) structure and function influence the morbidity and mortality from
coronary artery disease (CAD), dilated cardiomyopathy (DCM), pulmonary hypertension and …

Integrated multi-omic characterization of congenital heart disease

MC Hill, ZA Kadow, H Long, Y Morikawa, TJ Martin… - Nature, 2022 - nature.com
The heart, the first organ to develop in the embryo, undergoes complex morphogenesis that
when defective results in congenital heart disease (CHD). With current therapies, more than …

Single-cell transcriptomic analysis identifies murine heart molecular features at embryonic and neonatal stages

W Feng, A Bais, H He, C Rios, S Jiang, J Xu… - Nature …, 2022 - nature.com
Heart development is a continuous process involving significant remodeling during
embryogenesis and neonatal stages. To date, several groups have used single-cell …

Genome-wide analysis of left ventricular image-derived phenotypes identifies fourteen loci associated with cardiac morphogenesis and heart failure development

N Aung, JD Vargas, C Yang, CP Cabrera, HR Warren… - Circulation, 2019 - Am Heart Assoc
Background: The genetic basis of left ventricular (LV) image-derived phenotypes, which play
a vital role in the diagnosis, management, and risk stratification of cardiovascular diseases …

Genome-wide array analysis of normal and malformed human hearts

B Kaynak, A von Heydebreck, S Mebus, D Seelow… - Circulation, 2003 - Am Heart Assoc
Background—We present the first genome-wide cDNA array analysis of human congenitally
malformed hearts and attempted to partially elucidate these complex phenotypes. Most …

High heritability of ascending aortic diameter and trans-ancestry prediction of thoracic aortic disease

C Tcheandjieu, K Xiao, H Tejeda, JA Lynch… - Nature Genetics, 2022 - nature.com
Enlargement of the aorta is an important risk factor for aortic aneurysm and dissection, a
leading cause of morbidity in the developed world. Here we performed automated extraction …

Utility of machine learning algorithms in assessing patients with a systemic right ventricle

GP Diller, S Babu-Narayan, W Li… - European Heart …, 2019 - academic.oup.com
Aims To investigate the utility of novel deep learning (DL) algorithms in recognizing
transposition of the great arteries (TGA) after atrial switch procedure or congenitally …

Deep learning for detecting congenital heart disease in the fetus

SA Morris, KN Lopez - Nature Medicine, 2021 - nature.com
Deep learning for detecting congenital heart disease in the fetus | Nature Medicine Skip to main
content Thank you for visiting nature.com. You are using a browser version with limited support …

Spatially distinct genetic determinants of aortic dimensions influence risks of aneurysm and stenosis

M Nekoui, JP Pirruccello, P Di Achille, SH Choi… - Journal of the American …, 2022 - jacc.org
Background The left ventricular outflow tract (LVOT) and ascending aorta are spatially
complex, with distinct pathologies and embryologic origins. Prior work examined the …