- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2248)
- Mitral stenosis (HP:0001718): An abnormal narrowing of the orifice of the mitral valve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2248)
- Maternal diabetes (HP:0009800): Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2248)
- Hypoplastic aortic arch (HP:0012304): Underdevelopment of the arch of aorta. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2248)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2248)
- Abnormality of chromosome segregation (HP:0002916): An abnormality of chromosome segregation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2248)
- Hypoplastic left ventricle (HP:0004383): A severe congenital heart defect characterized by underdevelopment of the left ventricle. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2248)
- Mitral atresia (HP:0011560): A congenital defect with failure to open of the mitral valve orifice. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2248)
These phenotypes are associated with the disease Hypoplastic left heart syndrome (ORPHA:2248).