Phenotypes associated with the disease heterotaxy, visceral, 8, autosomal (OMIM:617205):
- Aortopulmonary collateral arteries (HP:0031834): Small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus. Evidence: PCS. Frequency: 1/3. (PMID:27616478)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 3/3. (PMID:27616478)
- Atrial situs ambiguous (HP:0011539): Common atrium without defining morphologic features. Evidence: PCS. Frequency: 1/3. (PMID:27616478)
- Dextrocardia (HP:0001651): The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left. Evidence: PCS. Frequency: 1/2. (PMID:27616478)
- Abdominal situs inversus (HP:0003363): A left-right reversal (or mirror reflection) of the anatomical location of the viscera of the abdomen. Evidence: PCS. Frequency: 3/3. (PMID:27616478)
- Hypoplastic left ventricle (HP:0004383): A severe congenital heart defect characterized by underdevelopment of the left ventricle. Evidence: PCS. Frequency: 3/3. (PMID:27616478)
- Atrial situs inversus (HP:0011538): Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side. Evidence: PCS. Frequency: 1/3. (PMID:27616478)
- Unbalanced atrioventricular canal defect (HP:0011579): Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced). Evidence: PCS. Frequency: 2/3. (PMID:27616478)
- Ventricular septal defect (HP:0001629): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: PCS. Frequency: 3/3. (PMID:27616478)
- Levotransposition of the great arteries (HP:0011540): Congenitally corrected transposition of the great arteries (ccTGA) is a discordance of atrioventricular (AV) and ventriculoarterial connections. The anatomy of ccTGA involves systemic venous drainage to the morphologic right atrium (mRA), which is connected via the mitral valve to the morphologic left ventricle (mLV) whose outflow is the pulmonary arterial system. The pulmonary venous drainage arrives at the morphologic left atrium (mLA), which crosses the tricuspid valve into the morphologic right ventricle (mRV) with outflow into the systemic arterial system. In isolation, ccTGA has an in-series circulation without mixing; therefore, the presence or absence of associated defects dictates the patient's clinical presentation. Evidence: PCS. Frequency: 1/3. (PMID:27616478)
- Double outlet right ventricle (HP:0001719): Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle. Evidence: PCS. Frequency: 1/3. (PMID:27616478)
- Right aortic arch (HP:0012020): Aorta descends on right instead of on the left. Evidence: PCS. Frequency: 1/3. (PMID:27616478)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:27616478)
- Pulmonary artery atresia (HP:0004935): A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery. Evidence: PCS. Frequency: 2/3. (PMID:27616478)