2024 heart disease and stroke statistics: a report of US and global data from the American Heart Association

SS Martin, AW Aday, ZI Almarzooq, CAM Anderson… - Circulation, 2024 - Am Heart Assoc
BACKGROUND: The American Heart Association (AHA), in conjunction with the National
Institutes of Health, annually reports the most up-to-date statistics related to heart disease …

[HTML][HTML] Pathogenesis and Surgical Treatment of Dextro-Transposition of the Great Arteries (D-TGA): Part II

M Zubrzycki, R Schramm, A Costard-Jäckle… - Journal of Clinical …, 2024 - mdpi.com
Dextro-transposition of the great arteries (D-TGA) is the second most common cyanotic heart
disease, accounting for 5–7% of all congenital heart defects (CHDs). It is characterized by …

[HTML][HTML] Biliary atresia is associated with polygenic susceptibility in ciliogenesis and planar polarity effector genes

JT Glessner, MB Ningappa, KA Ngo, M Zahid, J So… - Journal of …, 2023 - Elsevier
Background & Aims Biliary atresia (BA) is poorly understood and leads to liver
transplantation (LT), with the requirement for and associated risks of lifelong …

Charting the path: navigating embryonic development to potentially safeguard against congenital heart defects

J Bragança, R Pinto, B Silva, N Marques… - Journal of Personalized …, 2023 - mdpi.com
Congenital heart diseases (CHDs) are structural or functional defects present at birth due to
improper heart development. Current therapeutic approaches to treating severe CHDs are …

[HTML][HTML] Multi-ancestry genetic analysis of gene regulation in coronary arteries prioritizes disease risk loci

CJ Hodonsky, AW Turner, MD Khan, NB Barrientos… - Cell Genomics, 2024 - cell.com
Genome-wide association studies (GWASs) have identified hundreds of risk loci for coronary
artery disease (CAD). However, non-European populations are underrepresented in …

Complex trait associations in rare diseases and impacts on Mendelian variant interpretation

C Smail, B Ge, MR Keever-Keigher… - Nature …, 2024 - nature.com
Emerging evidence implicates common genetic variation-aggregated into polygenic scores
(PGS)-in the onset and phenotypic presentation of rare diseases. Here, we comprehensively …

Congenitally corrected transposition of the great arteries: fetal diagnosis, associations, and postnatal outcome: a fetal heart society research collaborative study

J Cohen, B Arya, R Caplan, MT Donofrio… - Journal of the …, 2023 - Am Heart Assoc
Background Fetal diagnosis of congenitally corrected transposition of the great arteries
(ccTGA) has been increasingly reported; however, predictors of clinical outcomes remain …

[HTML][HTML] Common genetic variants improve risk stratification after the atrial switch operation for transposition of the great arteries

OI Woudstra, D Skoric-Milosavljevic, BJM Mulder… - International journal of …, 2023 - Elsevier
Background Clinical factors are used to estimate late complication risk in adults after atrial
switch operation (AtrSO) for transposition of the great arteries (TGA), but heterogeneity in …

Polygenic risk scores of endo-phenotypes identify the effect of genetic background in congenital heart disease

SJ Spendlove, L Bondhus, G Lluri, JH Sul… - Human Genetics and …, 2022 - cell.com
Congenital heart disease (CHD) is a rare structural defect that occurs in∼ 1% of live births.
Studies on CHD genetic architecture have identified pathogenic single-gene mutations in …

[HTML][HTML] Importance of Cardiovascular Magnetic Resonance Applied to Congenital Heart Diseases in Pediatric Age: A Narrative Review

S Moscatelli, A Pozza, I Leo, J Ielapi, A Scatteia… - Children, 2024 - ncbi.nlm.nih.gov
Congenital heart diseases (CHDs) represent a heterogeneous group of congenital defects,
with high prevalence worldwide. Non-invasive imaging is essential to guide medical and …