- Coarctation of the descending aortic arch (HP:0012305): Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:1457)
- Abnormal left ventricular outflow tract morphology (HP:0011103): An abnormality of the outflow tract of the left ventricle. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1457)
- Cardiomegaly (HP:0001640): Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1457)
- Bicuspid aortic valve (HP:0001647): The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1457)
- Coronary artery atherosclerosis (HP:0001677): Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1457)
- Hypoplastic left ventricle (HP:0004383): A severe congenital heart defect characterized by underdevelopment of the left ventricle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1457)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1457)
- Congestive heart failure (HP:0001635): The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1457)
- 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:1457)
- Persistent left superior vena cava (HP:0005301): A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1457)
- Perimembranous ventricular septal defect (HP:0011682): A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1457)
- Hypoplastic aortic arch (HP:0012304): Underdevelopment of the arch of aorta. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1457)
- Stroke (HP:0001297): Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1457)
- Tetralogy of Fallot (HP:0001636): A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1457)
- Pulmonary arterial hypertension (HP:0002092): Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1457)
- Aortic valve atresia (HP:0010883): A congenital disorder of the aortic valve in which the orifice of the valve fails to develop. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1457)
These phenotypes are associated with the disease Coarctation of aorta (ORPHA:1457).
The following phenotypes are NOT associated with this disease:
- Pseudocoarctation of the aorta (HP:0005295): Pseudocoarctation is a congenital anomaly of kinking, or buckling, of the aorta without a pressure gradient across the lesion. It is characterized by elongation and kinking of the aorta at the level of the ligamentum arteriosum. Evidence: TAS. (ORPHA:1457)
- Interrupted aortic arch (HP:0011611): Non-continuity of the arch of aorta with an atretic point or absent segment. Evidence: TAS. (ORPHA:1457)