Molecular genetic mechanisms of congenital heart disease

TZ Choudhury, V Garg - Current opinion in genetics & development, 2022 - Elsevier
Congenital heart disease (CHD) affects~ 1% of all live births, but a definitive etiology is
identified in only~ 50%. The causes include chromosomal aneuploidies and copy-number …

Copy-number variation in congenital heart disease

L Ehrlich, SK Prakash - Current Opinion in Genetics & Development, 2022 - Elsevier
Genomic copy-number variants (CNVs) contribute to as many congenital heart disease
(CHD) cases (10–15%) as chromosomal aberrations or single-gene mutations and influence …

[HTML][HTML] Defects in placental syncytiotrophoblast cells are a common cause of developmental heart disease

BN Radford, X Zhao, T Glazer, M Eaton… - Nature …, 2023 - nature.com
Placental abnormalities have been sporadically implicated as a source of developmental
heart defects. Yet it remains unknown how often the placenta is at the root of congenital …

KLF13 loss‐of‐function mutations underlying familial dilated cardiomyopathy

YH Guo, J Wang, XJ Guo, RF Gao… - Journal of the …, 2022 - Am Heart Assoc
Background Dilated cardiomyopathy (DCM), characterized by progressive left ventricular
enlargement and systolic dysfunction, is the most common type of cardiomyopathy and a …

[HTML][HTML] Zebrafish as a model of cardiac pathology and toxicity: spotlight on uremic toxins

A Coppola, P Lombari, E Mazzella… - International Journal of …, 2023 - mdpi.com
Chronic kidney disease (CKD) is an increasing health care problem. About 10% of the
general population is affected by CKD, representing the sixth cause of death in the world …

Genetics of aortic valve disease

RL Ackah, J Yasuhara, V Garg - Current opinion in cardiology, 2023 - journals.lww.com
These new insights into the genetic contributors of AVD have offered new avenues for
translational disease investigation, bridging molecular discoveries to emergent …

Novel pathogenic GATA6 variant associated with congenital heart disease, diabetes mellitus and necrotizing enterocolitis

J Yasuhara, SN Manivannan, U Majumdar… - Pediatric …, 2024 - nature.com
Background Pathogenic GATA6 variants have been associated with congenital heart
disease (CHD) and a spectrum of extracardiac abnormalities, including pancreatic agenesis …

[HTML][HTML] Analysis of congenital heart disease research: Mapping impact, production and global collaboration

JP Zila-Velasque, P Grados-Espinoza, WS Cubas… - Heliyon, 2023 - cell.com
Background Congenital heart disease (CHD) is a severe childhood health problem
worldwide. This study analyzes the scientific production on CHD published in Scopus during …

SMAD1 Loss‐of‐Function Variant Responsible for Congenital Heart Disease

Z Wang, XH Qiao, YJ Xu, XY Liu… - BioMed Research …, 2022 - Wiley Online Library
As the most common form of developmental malformation affecting the heart and
endothoracic great vessels, congenital heart disease (CHD) confers substantial morbidity …

Lateral thinking in syndromic congenital cardiovascular disease

A Kocere, RL Lalonde, C Mosimann… - Disease Models & …, 2023 - journals.biologists.com
Syndromic birth defects are rare diseases that can present with seemingly pleiotropic
comorbidities. Prime examples are rare congenital heart and cardiovascular anomalies that …