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GTR Home > Conditions/Phenotypes > Congenital heart defects, multiple types, 8, with or without heterotaxy

Congenital heart defects, multiple types, 8, with or without heterotaxy

Summary

Multiple types of congenital heart defects-8 (CHTD8) is characterized by cardiac septal defects, double-outlet right ventricle, unbalanced complete atrioventricular canal, and valvular anomalies, as well as vascular anomalies including dextroposition of the great arteries, anomalous pulmonary venous return, and superior vena cava to left atrium defect. Patients may also exhibit laterality defects, including dextrocardia, atrial isomerism, dextrogastria, left-sided gallbladder, and intestinal malrotation (Zaidi et al., 2013; Granadillo et al., 2018). [from OMIM]

Available tests

3 tests are in the database for this condition.

Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CHTD8, JV18, JV18-1, LDS6, MADH2, MADR2, hMAD-2, hSMAD2, SMAD2
    Summary: SMAD family member 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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