- Aortic valve stenosis (HP:0001650): The presence of a stenosis (narrowing) of the aortic valve. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:3093)
- Exertional dyspnea (HP:0002875): Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3093)
- Heart murmur (HP:0030148): An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3093)
- Left ventricular hypertrophy (HP:0001712): Enlargement or increased size of the heart left ventricle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3093)
- Aortic valve calcification (HP:0004380): Deposition of calcium salts in the aortic valve. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3093)
- Abnormal T-wave (HP:0005135): An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3093)
- Dysplastic aortic valve (HP:0005176): A congenital malformation of the aortic valve characterized by leaflet deformation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3093)
- 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: Frequent (HP:0040282). (ORPHA:3093)
- Increased QRS voltage (HP:0025075): Elevation of the voltage (height) of the QRS complex. There are several criteria in use, but the most common is the Sokolov-Lyon criterion (S wave depth in V1 + tallest R wave height in V5-V6 greater than 35 mm). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3093)
- Angina pectoris (HP:0001681): Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3093)
- Endocardial fibroelastosis (HP:0001706): Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3093)
- Abnormal left ventricular function (HP:0005162): Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3093)
- Reduced left ventricular ejection fraction (HP:0012664): A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3093)
- Abnormal pulse pressure (HP:0030850): An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3093)
- Endocarditis (HP:0100584): An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3093)
- Sudden cardiac death (HP:0001645): The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3093)
- Thoracic aortic aneurysm (HP:0012727): An abnormal localized widening (dilatation) of the thoracic aorta. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3093)
These phenotypes are associated with the disease Congenital aortic valve stenosis (ORPHA:3093).