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GTR Home > Conditions/Phenotypes > Congenital heart defects, multiple types, 2

Congenital heart defects, multiple types, 2

Synonyms
Congenital heart defects, nonsyndromic, 2

Summary

Multiple types of congenital heart defects-2 (CHTD2) is characterized by variable congenital heart defects, primarily involving the valves, but also including septal defects or aneurysms, and complex defects such as tetralogy of Fallot. Dilated cardiomyopathy and myocardial noncompaction have been reported in some patients. In addition, some affected individuals exhibit facial dysmorphism and features of connective tissue disease (Thienpont et al., 2010; Ackerman et al., 2016; Ritelli et al., 2018). For a discussion of genetic heterogeneity of CHTD, see 306955. [from OMIM]

Available tests

28 tests are in the database for this condition.

Clinical tests (28 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CHTD2, MAP3K7IP2, TAB-2, TAB2
    Summary: TGF-beta activated kinase 1 (MAP3K7) binding protein 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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