Genomic frontiers in congenital heart disease

SU Morton, D Quiat, JG Seidman… - Nature Reviews …, 2022‏ - nature.com
The application of next-generation sequencing to study congenital heart disease (CHD) is
increasingly providing new insights into the causes and mechanisms of this prevalent birth …

Molecular genetics and complex inheritance of congenital heart disease

NS Diab, S Barish, W Dong, S Zhao, G Allington, X Yu… - Genes, 2021‏ - mdpi.com
Congenital heart disease (CHD) is the most common congenital malformation and the
leading cause of mortality therein. Genetic etiologies contribute to an estimated 90% of CHD …

Congenital heart disease risk loci identified by genome-wide association study in European patients

H Lahm, M Jia, M Dreßen, F Wirth… - The Journal of …, 2021‏ - Am Soc Clin Investig
Genetic factors undoubtedly affect the development of congenital heart disease (CHD) but
still remain ill defined. We sought to identify genetic risk factors associated with CHD and to …

Genome-wide association studies and meta-analyses for congenital heart defects

AJ Agopian, E Goldmuntz, H Hakonarson… - Circulation …, 2017‏ - Am Heart Assoc
Background—Maternal and inherited (ie, case) genetic factors likely contribute to the
pathogenesis of congenital heart defects, but it is unclear whether individual common …

Genome‐wide association studies of structural birth defects: A review and commentary

PJ Lupo, LE Mitchell, MM Jenkins - Birth defects research, 2019‏ - Wiley Online Library
Background While there is strong evidence that genetic risk factors play an important role in
the etiologies of structural birth defects, compared to other diseases, there have been …

[HTML][HTML] Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors

CSM Tang, M Mononen, WY Lam, SC **, X Zhuang… - JCI insight, 2022‏ - ncbi.nlm.nih.gov
Tetralogy of Fallot (TOF) is the most common cyanotic heart defect, yet the underlying
genetic mechanisms remain poorly understood. Here, we performed whole-genome …

Prevalence and clustering of congenital heart defects among boys with hypospadias

MA Richard, J Patel, RH Benjamin, E Bircan… - JAMA Network …, 2022‏ - jamanetwork.com
Importance Hypospadias is a common birth defect of the male urinary tract that may be
isolated or may co-occur with other structural malformations, including congenital heart …

From genes to therapy: A comprehensive exploration of congenital heart disease through the lens of genetics and emerging technologies

K Nawaz, N Alifah, T Hussain, H Hameed, H Ali… - Current Problems in …, 2024‏ - Elsevier
Congenital heart disease (CHD) affects approximately 1% of live births worldwide, making it
the most common congenital anomaly in newborns. Recent advancements in genetics and …

A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20

NA Hanchard, S Swaminathan… - Human molecular …, 2016‏ - academic.oup.com
Congenital heart defects involving left-sided lesions (LSLs) are relatively common birth
defects with substantial morbidity and mortality. Previous studies have suggested a high …

Functional screening of congenital heart disease risk loci identifies 5 genes essential for heart development in zebrafish

J Ma, Y Gu, J Liu, J Song, T Zhou, M Jiang… - Cellular and Molecular …, 2023‏ - Springer
Congenital heart disease (CHD) is the most common birth defect worldwide and a main
cause of perinatal and infant mortality. Our previous genome-wide association study …