- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 21/21. (PMID:34903892)
- Situs inversus totalis (HP:0001696): A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs. Evidence: PCS. Frequency: 8/21. (PMID:34903892)
- Complete atrioventricular canal defect (HP:0001674): A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect. Evidence: PCS. Frequency: 7/21. (PMID:34903892)
- 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: 6/21. (PMID:34903892)
- Single ventricle (HP:0001750): The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle. Evidence: PCS. Frequency: 4/21. (PMID:34903892)
- Double inlet right ventricle (HP:0011556): The condition in which both atria are joined to the right ventricle each by its own atrioventricular valve. Usually, the left ventricle is hypoplastic. Evidence: PCS. Frequency: 1/21. (PMID:34903892)
- Hypoplastic left ventricle (HP:0004383): A severe congenital heart defect characterized by underdevelopment of the left ventricle. Evidence: PCS. Frequency: 1/21. (PMID:34903892)
- Abdominal situs ambiguus (HP:0031565): An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements. Evidence: PCS. Frequency: 5/21. (PMID:34903892)
- Discordant atrioventricular connection (HP:0011553): Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart. Evidence: PCS. Frequency: 2/21. (PMID:34903892)
- Dextrotransposition of the great arteries (HP:0031348): A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA. Evidence: PCS. Frequency: 1/21. (PMID:34903892)
- Hypoplastic aortic arch (HP:0012304): Underdevelopment of the arch of aorta. Evidence: PCS. Frequency: 2/21. (PMID:34903892)
- 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: 3/21. (PMID:34903892)
- Single coronary artery origin (HP:0011640): The presence of a single coronary artery ostium from which both coronary arteries arise. Evidence: PCS. Frequency: 1/21. (PMID:34903892)
- 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: 3/21. (PMID:34903892)
- 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: 3/21. (PMID:34903892)
- Patent ductus arteriosus (HP:0001643): In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. Evidence: PCS. Frequency: 5/21. (PMID:34903892)
- Pulmonic stenosis (HP:0001642): A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis). Evidence: PCS. Frequency: 4/21. (PMID:34903892)
- Coarctation of aorta (HP:0001680): Coarctation of the aorta is a narrowing or constriction of a segment of the aorta. Evidence: PCS. Frequency: 1/21. (PMID:34903892)
- Partial anomalous pulmonary venous return (HP:0010773): A form of anomalous pulmonary venous return in which not all pulmonary veins drain abnormally. Partial anomalous pulmonary venous return frequently involves one or both of the veins from one lung. Evidence: PCS. Frequency: 1/21. (PMID:34903892)
- Common atrium (HP:0011565): Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections. Evidence: PCS. Frequency: 2/21. (PMID:34903892)
- Left Isomerism (HP:0031854): A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal left-sided structures. Evidence: PCS. Frequency: 1/21. (PMID:34903892)
- Double aortic arch (HP:0011590): A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor). Evidence: PCS. Frequency: 1/21. (PMID:34903892)
- 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: 7/21. (PMID:34903892)
- Right aortic arch (HP:0012020): Aorta descends on right instead of on the left. Evidence: PCS. Frequency: 1/21. (PMID:34903892)
- Left superior vena cava draining to coronary sinus (HP:0011670): A persistent left superior vena cava (PLSVC) that drains into the right atrium via the coronary sinus. This is the case in 80-92% of cases of PLSVC and results in no hemodynamic consequence. Evidence: PCS. Frequency: 3/42. (PMID:34903892)
- 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:34903892)
- Atrial septal defect (HP:0001631): Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. Evidence: PCS. Frequency: 5/21. (PMID:34903892)
- Patent foramen ovale (HP:0001655): Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria. Evidence: PCS. Frequency: 2/21. (PMID:34903892)
These phenotypes are associated with the disease heterotaxy, visceral, 12, autosomal (OMIM:619702).