Advances in the genetics of congenital heart disease: a clinician's guide

GM Blue, EP Kirk, E Giannoulatou, GF Sholler… - Journal of the American …, 2017 - jacc.org
Our understanding of the genetics of congenital heart disease (CHD) is rapidly expanding;
however, many questions, particularly those relating to sporadic forms of disease, remain …

Segmentation and classification in MRI and US fetal imaging: recent trends and future prospects

J Torrents-Barrena, G Piella, N Masoller… - Medical Image …, 2019 - Elsevier
Fetal imaging is a burgeoning topic. New advancements in both magnetic resonance
imaging and (3D) ultrasound currently allow doctors to diagnose fetal structural …

Race and genetics in congenital heart disease: application of iPSCs, omics, and machine learning technologies

MK Mullen, A Zhang, GK Lui, AW Romfh… - Frontiers in …, 2021 - frontiersin.org
Congenital heart disease (CHD) is a multifaceted cardiovascular anomaly that occurs when
there are structural abnormalities in the heart before birth. Although various risk factors are …

Genetics of congenital heart disease: past and present

I Muntean, R Togănel, T Benedek - Biochemical genetics, 2017 - Springer
Congenital heart disease is the most common congenital anomaly, representing an
important cause of infant morbidity and mortality. Congenital heart disease represents a …

Genomic insights into heart health: Exploring the genetic basis of cardiovascular disease

M Safdar, M Ullah, A Wahab, S Hamayun… - Current Problems in …, 2024 - Elsevier
Cardiovascular diseases (CVDs) are considered as the leading cause of death worldwide.
CVD continues to be a major cause of death and morbidity despite significant improvements …

CHD4 and the NuRD complex directly control cardiac sarcomere formation

CM Wilczewski, AJ Hepperla… - Proceedings of the …, 2018 - National Acad Sciences
Cardiac development relies on proper cardiomyocyte differentiation, including expression
and assembly of cell-type-specific actomyosin subunits into a functional cardiac sarcomere …

Genomic and non-genomic regulatory mechanisms of the cardiac sodium channel in cardiac arrhythmias

H Daimi, E Lozano-Velasco, A Aranega… - International Journal of …, 2022 - mdpi.com
Nav1. 5 is the predominant cardiac sodium channel subtype, encoded by the SCN5A gene,
which is involved in the initiation and conduction of action potentials throughout the heart …

Next generation sequencing applications for cardiovascular disease

S Kalayinia, H Goodarzynejad, M Maleki… - Annals of …, 2018 - Taylor & Francis
Abstract The Human Genome Project (HGP), as the primary sequencing of the human
genome, lasted more than one decade to be completed using the traditional Sanger's …

[HTML][HTML] MEF2C loss-of-function mutation contributes to congenital heart defects

XH Qiao, F Wang, XL Zhang, RT Huang… - … journal of medical …, 2017 - ncbi.nlm.nih.gov
Congenital heart disease (CHD) is the most common type of developmental abnormality in
humans, and is a leading cause for substantially increased morbidity and mortality in …

Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene

I Luyckx, AA Kumar, E Reyniers, E Dekeyser… - European Journal of …, 2019 - nature.com
Bicuspid aortic valve (BAV) is the most common congenital heart defect (CHD), affecting 1–
2% of the population. BAV is associated with thoracic aortic aneurysms (TAAs). Deleterious …