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Genomics|Features|Congenital Heart Disease

Congenital Heart Disease

Congenital Heart Disease: Genes, Environment and Public Health - August 4, 2015

CDC and Related Info

• Congenital Heart Defects (CHDs)
• Facts about Congenital Heart Defects
• State legislation, regulations, and hospital guidelines for newborn screening for critical congenital heart defects - United States, 2011-2014CDC MMWR Article, June 18, 2015
• Key Findings: Estimating the impact of newborn screening for critical congenital heart defects in the United States
• Genes reported in relation to specific congenital heart defects, including genomewide association studies via theHuGE Navigator

Genetics of congenital heart disease: the contribution of the noncoding regulatory genome.
Postma AV et al. J. Hum. Genet. 2015 Jul 30.

State legislation, regulations, and hospital guidelines for newborn screening for critical congenital heart defects - United States, 2011-2014
CDC MMWR Article, June 18, 2015

Genetics and genetic testing in congenital heart disease.
Cowan JR et al. Clin Perinatol 2015 Jun (2) 373-393

CDC information: Congenital heart defects (CHDs) are the most common type of birth defects.

Honor your heart hero for CHD Awareness Week, American Heart Association

CDC key findings: Estimating the impact of newborn screening for critical congenital heart defects in the United States

CDC information: The causes of CHDs among most babies are unknown. Some babies have heart defects because of genetic factors. CHDs also are thought to be caused by a combination of genes and other environmental factors

Search the NIH Genetic Testing Registry for genetic disorders and tests associated with congenital heart disease 

Search the HuGE Navigator for genetic factors reported in relation to specific congenital heart defects in populations

Newborn Screening ACT Sheet [Hypoxemia] Critical Congenital Heart Disease,  [PDF 767.92 KB]American College of Medical Genetics

Congenital heart disease: Causes, diagnosis, symptoms, and treatments.
Sun R, et al. Cell Biochem Biophys. 2015 Feb 1.

Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease.
Blue GM, et al. J Am Coll Cardiol. 2014 Dec 16;64(23):2498-506

Current practice and utility of chromosome microarray analysis in infants undergoing cardiac surgery.
Buckley JR, et al. Congenit Heart Dis. 2014 Dec 14.

Genetic counselling in parents of children with congenital heart disease significantly improves knowledge about causation and enhances psychosocial functioning.
Blue GM, et al. Int J Cardiol. 2015 Jan 15;178:124-30.