visceral heterotaxy 8

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

A visceral heterotaxy that is characterized by visceral situs inversus associated with complex congenital heart malformations 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 PKD1L1 gene on chromosome 7p12.

Signs and symptoms

• Abdominal situs inversus
• Hypoplastic left ventricle
• Ventricular septal defect
• Unbalanced atrioventricular canal defect
• Pulmonary artery atresia
• Dextrocardia
• Aortopulmonary collateral arteries
• Atrial situs ambiguous
• Atrial situs inversus
• Levotransposition of the great arteries