A new era of genetic testing in congenital heart disease: a review

AM Morrish, J Smith, A Enriquez, GF Sholler… - Trends in …, 2022 - Elsevier
Genetic and genomic testing in pediatric CHD is becoming increasingly routine, and can
have important psychosocial, clinical and reproductive implications. In this paper we …

Appropriate use of genetic testing in congenital heart disease patients

S Ito, KA Chapman, M Kisling, AS John - Current cardiology reports, 2017 - Springer
Abstract Purpose of Review Congenital heart disease (CHD) remains the most common
birth defect, occurring in 1% of all births. Although the exact etiology of CHD is still largely …

[HTML][HTML] Genetic testing in patients with congenital heart disease: you do no harm when using the right tools!

J De Backer, L Muiño Mosquera - Circulation: Genomic and …, 2023 - Am Heart Assoc
The combination of increased accessibility to genetic testing, the higher throughput and the
establishment of extensive biobanks containing not only genetic data but also clinical data …

[HTML][HTML] Genetic testing in congenital heart disease: A clinical approach

MA Chaix, G Andelfinger, P Khairy - World journal of cardiology, 2016 - ncbi.nlm.nih.gov
Congenital heart disease (CHD) is the most common type of birth defect. Traditionally, a
polygenic model defined by the interaction of multiple genes and environmental factors was …

Genetics in congenital heart disease. Are we ready for it?

J De Backer, B Callewaert, LM Mosquera - Revista Española de …, 2020 - Elsevier
Genetics has rightly acquired an important place in almost all medical disciplines in recent
years and this is certainly the case in the field of congenital cardiology. Not only has this led …

[HTML][HTML] A multicenter cross-sectional study in infants with congenital heart defects demonstrates high diagnostic yield of genetic testing but variable evaluation …

MD Durbin, LR Helvaty, M Li, W Border… - Genetics in Medicine …, 2023 - Elsevier
Purpose For patients with congenital heart disease (CHD), the most common birth defect,
genetic evaluation is not universally accepted, and current practices are anecdotal. Here, we …

Genetic counseling for congenital heart disease: new approaches for a new decade

K Hoess, E Goldmuntz, RE Pyeritz - Current cardiology reports, 2002 - Springer
Congenital heart disease (CHD), which occurs in about 0.7% of all live-born children, is the
leading cause of death from birth defects. Understandably, parents of patients, and …

Current approach to genetic testing and genetic evaluation referrals for adults with congenital heart disease

LB Oehlman, AR Opotowsky, KN Weaver… - Frontiers in …, 2024 - frontiersin.org
Background Congenital heart disease (CHD) is the most common congenital anomaly. Up to
33% have an identifiable genetic etiology. Improved medical and surgical management of …

[HTML][HTML] Clinical Genetic and Genomic Testing in Congenital Heart Disease and Cardiomyopathy

M Pidaparti, GC Geddes, MD Durbin - Journal of Clinical Medicine, 2024 - mdpi.com
Congenital heart disease (CHD) and cardiomyopathies are the leading cause of morbidity
and mortality worldwide. These conditions are often caused by genetic factors, and recent …

[HTML][HTML] Genetic detection of congenital heart disease

SI Rachamadugu, KA Miller, IH Lee, YS Zou - Gynecology and Obstetrics …, 2022 - Elsevier
Congenital heart disease (CHD) is the most common congenital anomaly and is an
important cause of infant morbidity and mortality. Besides the epigenetic and environmental …