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GTR Home > Conditions/Phenotypes > Heterotaxy, visceral, 2, autosomal

Heterotaxy, visceral, 2, autosomal

Synonyms
CFC1-Related Visceral Heterotaxy; Transposition of the great arteries, dextro-looped 2

Summary

The more common form of transposition of the great arteries, dextro-looped TGA, consists of complete inversion of the great vessels, so that the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. (In the less common type of TGA, levo-looped TGA, the ventricles are inverted instead) (Goldmuntz et al., 2002). This creates completely separate pulmonary and systemic circulatory systems, an arrangement that is incompatible with life. Patients with TGA often have atrial and/or ventricular septal defects or other types of shunting that allow some mixing between the circulations in order to support life minimally, but surgical intervention is always required. For a discussion of genetic heterogeneity of dextro-looped transposition of the great arteries, see 608808. [from OMIM]

Available tests

13 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (13 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CFC1B, CRYPTIC, DTGA2, HTX2, CFC1
    Summary: cryptic, EGF-CFC family member 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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