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GTR Home > Conditions/Phenotypes > Conotruncal heart malformations

Conotruncal heart malformations

Synonyms
CFC1-Related Conotruncal Heart Malformations; Conotruncal cardiac defects

Summary

A group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome . A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon). [from ORDO]

Available tests

103 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (103 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: , GATA6
    Summary: GATA binding protein 6

  • Also known as: CHNG5, CSX, CSX1, HLHS2, NKX2.5, NKX2E, NKX4-1, VSD3, NKX2-5
    Summary: NK2 homeobox 5

  • Also known as: CSX2, CTHM, NKX2F, NKX4-2, NKX2-6
    Summary: NK2 homeobox 6

  • Also known as: CAFS, CATCH22, CTHM, DGCR, DGS, DORV, TBX1C, TGA, VCF, VCFS, TBX1
    Summary: T-box transcription factor 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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