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GTR Home > Conditions/Phenotypes > Cardiac valvular dysplasia 2

Cardiac valvular dysplasia 2

Summary

Cardiac valvular dysplasia-2 (CVDP2) is characterized primarily by congenital stenosis and insufficiency of the semilunar valves, although mild insufficiency of the atrioventricular valves has been observed as well. Other features include subaortic stenosis and dilation of the ascending aorta and/or pulmonary artery in some patients (Wunnemann et al., 2020; Massadeh et al., 2020). For a discussion of genetic heterogeneity of CVDP, see CVDP1 (212093). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CVDP2, ADAMTS19
    Summary: ADAM metallopeptidase with thrombospondin type 1 motif 19

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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