Active: Congenital heart defects Clear all

GWAS 2024-03-07

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

Broberg M, Ampuja M et al.

BMC Genomics

Congenital heart defects (CHD) are structural defects of the heart affecting approximately 1% of new...

Congenital heart defects

Replicated

882963

Participants

N/A

Studies

Details PubMed

GWAS 2022-04-22

A genome-wide association study of obstructive heart defects among participants in the National Birth Defects Prevention Study.

Rashkin SR, Cleves M et al.

Am J Med Genet A

Obstructive heart defects (OHDs) share common structural lesions in arteries and cardiac valves, acc...

Obstructive heart defect

2145

Participants

N/A

Studies

Details PubMed

GWAS 2020-10-22

Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome.

Trevino CE, Holleman AM et al.

Sci Rep

Atrioventricular septal defects (AVSD) are a severe congenital heart defect present in individuals w...

Atrioventricular septal defects in Down syndrome

487

Participants

N/A

Studies

Details PubMed

GWAS 2018-03-24

A rare missense mutation in MYH6 associates with non-syndromic coarctation of the aorta.

Bjornsson T, Thorolfsdottir RB et al.

Eur Heart J

Aims: Coarctation of the aorta (CoA) accounts for 4-8% of congenital heart defects (CHDs) and confer...

Aortic coarctation

Replicated

355193

Participants

N/A

Studies

Details PubMed

GWAS 2017-06-01

Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects.

Agopian AJ, Goldmuntz E et al.

Circ Cardiovasc Genet

Maternal and inherited (ie, case) genetic factors likely contribute to the pathogenesis of congenita...

Conotruncal heart defects (inherited effects)

6457

Participants

N/A

Studies

Details PubMed

GWAS 2016-03-09

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

Hanchard NA, Swaminathan S et al.

Hum Mol Genet

Congenital heart defects involving left-sided lesions (LSLs) are relatively common birth defects wit...

Congenital left-sided heart lesions

Replicated

8794

Participants

N/A

Studies

Details PubMed

Title

Author

Journal

Disease/Trait

Date

Actions

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

Broberg M, Ampuja M et al.

BMC Genomics

Congenital heart defects

2024-03-07

A genome-wide association study of obstructive heart defects among participants in the National Birth Defects Prevention Study.

Rashkin SR, Cleves M et al.

Am J Med Genet A

Obstructive heart defect

2022-04-22

Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome.

Trevino CE, Holleman AM et al.

Sci Rep

Atrioventricular septal defects in Down syndrome

2020-10-22

A rare missense mutation in MYH6 associates with non-syndromic coarctation of the aorta.

Bjornsson T, Thorolfsdottir RB et al.

Eur Heart J

Aortic coarctation

2018-03-24

Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects.

Agopian AJ, Goldmuntz E et al.

Circ Cardiovasc Genet

Conotruncal heart defects (inherited effects)

2017-06-01

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

Hanchard NA, Swaminathan S et al.

Hum Mol Genet

Congenital left-sided heart lesions

2016-03-09