visceral heterotaxy 7

A visceral heterotaxy that is characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs and that has_material_basis_in homozygous or compound heterozyg

A visceral heterotaxy that is characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs and that has_material_basis_in homozygous or compound heterozygous mutation in the MMP21 gene on chromosome 10q26.

Signs and symptoms

• Abnormal cardiac septum morphology
• Heterotaxy
• Situs inversus totalis
• Hypoplasia of right ventricle
• Interrupted aortic arch
• Common atrium
• Total anomalous pulmonary venous return
• Interrupted inferior vena cava with azygous continuation
• Atrioventricular canal defect
• Polysplenia