ArticleCirculation. Cardiovascular imaging2014
Interrogating congenital heart defects with noninvasive fetal echocardiography in a mouse forward genetic screen.
Article in Circulation. Cardiovascular imaging, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 46 citations in OpenAlex.
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- Mitigation of Fetal Radiation Injury from Mid-Gestation Total-body Irradiation by Maternal Administration of Mitochondrial-Targeted GS-Nitroxide JP4-039.Radiation research · 2024Article
- Mouse Cardiovascular Imaging.Current protocols · 2024Review
- Establishment of Cardiac Laterality.Advances in experimental medicine and biology · 2024Review
- The dimethadione-exposed rat fetus: an animal model for the prenatal ultrasound characterization of ventricular septal defect.BMC cardiovascular disorders · 2023Article
- Quantitative Image Processing for Three-Dimensional Episcopic Images of Biological Structures: Current State and Future Directions.Biomedicines · 2023Review
- Genome Editing and Myocardial Development.Advances in experimental medicine and biology · 2023Review
- Novel Insights into the Etiology, Genetics, and Embryology of Hypoplastic Left Heart Syndrome.World journal for pediatric & congenital heart surgery · 2022Article
- Genetic resiliency associated with dominant lethalCell reports. Medicine · 2022Article
- Embryonic echocardiography for assessment of congenital and functional cardiac defects.STAR protocols · 2021Article
- Role of cilia in the pathogenesis of congenital heart disease.Seminars in cell & developmental biology · 2021Review
- Cardiac MRI Assessment of Mouse Myocardial Infarction and Regeneration.Methods in molecular biology (Clifton, N.J.) · 2021Article
- Validating the Paradigm That Biomechanical Forces Regulate Embryonic Cardiovascular Morphogenesis and Are Fundamental in the Etiology of Congenital Heart Disease.Journal of cardiovascular development and disease · 2020Review
- Evolution of care pathways for babies with hypoplastic left heart syndrome: integrating mechanistic and clinical process investigation, standardization, and collaborative study.Journal of thoracic disease · 2020Review
- Left-right patterning in congenital heart disease beyond heterotaxy.American journal of medical genetics. Part C, Seminars in medical genetics · 2020Review
- Novel insights into the genetic landscape of congenital heart disease with systems genetics.Progress in pediatric cardiology · 2019Article
- The Genetic Landscape of Hypoplastic Left Heart Syndrome.Pediatric cardiology · 2018Article
- Cilia and Ciliopathies in Congenital Heart Disease.Cold Spring Harbor perspectives in biology · 2017Review
- The complex genetics of hypoplastic left heart syndrome.Nature genetics · 2017Article
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Authors and funding
16 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundCongenital heart disease (CHD) has a multifactorial pathogenesis, but a genetic contribution is indicated by heritability studies. To investigate the spectrum of CHD with a genetic pathogenesis, we conducted a forward genetic screen in inbred mice using fetal echocardiography to recover mutants with CHD. Mice are ideally suited for these studies given that they have the same four-chamber cardiac anatomy that is the substrate for CHD. METHODS AND
resultsEthylnitrosourea mutagenized mice were ultrasound-interrogated by fetal echocardiography using a clinical ultrasound system, and fetuses suspected to have cardiac abnormalities were further interrogated with an ultrahigh-frequency ultrasound biomicroscopy. Scanning of 46 270 fetuses revealed 1722 with cardiac anomalies, with 27.9% dying prenatally. Most of the structural heart defects can be diagnosed using ultrasound biomicroscopy but not with the clinical ultrasound system. Confirmation with analysis by necropsy and histopathology showed excellent diagnostic capability of ultrasound biomicroscopy for most CHDs. Ventricular septal defect was the most common CHD observed, whereas outflow tract and atrioventricular septal defects were the most prevalent complex CHD. Cardiac/visceral organ situs defects were observed at surprisingly high incidence. The rarest CHD found was hypoplastic left heart syndrome, a phenotype never seen in mice previously.
conclusionsWe developed a high-throughput, 2-tier ultrasound phenotyping strategy for efficient recovery of even rare CHD phenotypes, including the first mouse models of hypoplastic left heart syndrome. Our findings support a genetic pathogenesis for a wide spectrum of CHDs and suggest that the disruption of left-right patterning may play an important role in CHD.
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