Heart-brain connections: Phenotypic and genetic insights from magnetic resonance images

B Zhao, T Li, Z Fan, Y Yang, J Shu, X Yang, X Wang… - Science, 2023 - science.org
Cardiovascular health interacts with cognitive and mental health in complex ways, yet little is
known about the phenotypic and genetic links of heart-brain systems. We quantified heart …

Effect of polygenic risk for schizophrenia on cardiac structure and function: a UK Biobank observational study

T Pillinger, EF Osimo, A de Marvao, M Shah… - The Lancet …, 2023 - thelancet.com
Background Cardiovascular disease is a major cause of excess mortality in people with
schizophrenia. Several factors are responsible, including lifestyle and metabolic effects of …

Methodology in phenome-wide association studies: a systematic review

L Wang, X Zhang, X Meng, F Koskeridis… - Journal of medical …, 2021 - jmg.bmj.com
Phenome-wide association study (PheWAS) has been increasingly used to identify novel
genetic associations across a wide spectrum of phenotypes. This systematic review aims to …

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 …

Genetic architecture of cardiac dynamic flow volumes

B Gomes, A Singh, JW O'Sullivan, TM Schnurr… - Nature Genetics, 2024 - nature.com
Cardiac blood flow is a critical determinant of human health. However, the definition of its
genetic architecture is limited by the technical challenge of capturing dynamic flow volumes …

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 …

[HTML][HTML] Computational estimates of annular diameter reveal genetic determinants of mitral valve function and disease

M Yu, C Tcheandjieu, A Georges, K **ao, H Tejeda… - JCI insight, 2022 - ncbi.nlm.nih.gov
The fibrous annulus of the mitral valve plays an important role in valvular function and
cardiac physiology, while normal variation in the size of cardiovascular anatomy may share …

Genome-wide association studies highlight novel risk loci for septal defects and left-sided congenital heart defects

M Broberg, M Ampuja, S Jones, T Ojala, O Rahkonen… - BMC genomics, 2024 - Springer
Background Congenital heart defects (CHD) are structural defects of the heart affecting
approximately 1% of newborns. They exhibit low penetrance and non-Mendelian patterns of …

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 …

Genetic determinants of the interventricular septum are linked to ventricular septal defects and hypertrophic cardiomyopathy

M Yu, AR Harper, M Aguirre, M Pittman… - Circulation: Genomic …, 2023 - Am Heart Assoc
Background: A large proportion of genetic risk remains unexplained for structural heart
disease involving the interventricular septum (IVS) including hypertrophic cardiomyopathy …