Genetics and genomics of congenital heart disease

S Zaidi, M Brueckner - Circulation research, 2017 - Am Heart Assoc
Congenital heart disease is the most common birth defect, and because of major advances
in medical and surgical management, there are now more adults living with congenital heart …

Use and interpretation of genetic tests in cardiovascular genetics

C Caleshu, S Day, HL Rehm, S Baxter - Heart, 2010 - heart.bmj.com
Our understanding of the genetic basis of many Mendelian forms of cardiovascular disease
has advanced significantly in the last 5e10 years. There are now many professional society …

Genetics of congenital heart disease

AE Roberts, RV Lacro - Nadas' Pediatric Cardiology, 2025 - Elsevier
The incidence of congenital heart disease (CHD) is estimated at 6–12 per 1000 live births,
but the true prevalence is likely higher because mild CHD (eg, bicuspid aortic valve) may not …

The genetic workup for structural congenital heart disease

T Jerves, A Beaton, P Kruszka - American Journal of Medical …, 2020 - Wiley Online Library
Congenital heart disease (CHD) is the most prevalent birth defect and is the result of
multiple etiologies including genetic and environmental causes. This article reviews the …

Genomic testing and molecular diagnosis among infants with congenital heart disease in the neonatal intensive care unit

EE D'Souza, TO Findley, R Hu, ZSH Khazal… - Journal of …, 2024 - nature.com
Objective To evaluate patterns of genetic testing among infants with CHD at a tertiary care
center. Study design We conducted a retrospective observational cohort study of infants in …

Genotype-phenotype correlation in congenital heart disease

MB Lewin, IA Glass, P Power - Current Opinion in Cardiology, 2004 - journals.lww.com
Genotype-phenotype correlation in congenital heart disease : Current Opinion in Cardiology
Genotype-phenotype correlation in congenital heart disease : Current Opinion in Cardiology …

The state of congenital heart disease

P Kruszka, A Beaton - … Journal of Medical Genetics Part C …, 2020 - Wiley Online Library
In this special issue of the American Journal of Medical Genetics Part C, we focus on the
“State of Congenital Heart Disease.” We anticipate that after viewing this journal, the reader …

A case for inclusion of genetic counselors in cardiac care

P Arscott, C Caleshu, K Kotzer, S Kreykes… - Cardiology in …, 2016 - journals.lww.com
Recent advances in genetic testing for heritable cardiac diseases have led to an increasing
involvement of the genetic counselor in cardiology practice. We present a series of cases …

Genetic contribution to congenital heart disease (CHD)

NA Shabana, SU Shahid, U Irfan - Pediatric cardiology, 2020 - Springer
Congenital heart defects (CHD) are the most common congenital problems in neonates. The
basis for CHD is multifactorial, involving genetic and environmental components. The …

Genetic causes of syndromic and non-syndromic congenital heart disease

AC Fahed, GM Nemer - Mutations in human genetic disease, 2012 - books.google.com
Congenital heart disease (CHD) is the most common human congenital defect, and a
leading cause of death in infants. With an incidence that varies between 0.8 to 2% in …