Phenotypes associated with the disease Aneurysm of sinus of Valsalva (ORPHA:1054):
- Dilatation of the sinus of Valsalva (HP:0011645): Abnormal outpouching or sac-like dilatation of one of the anatomic dilations of the ascending aorta, which occurs just above the aortic valve. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:1054)
- Aortic regurgitation (HP:0001659): An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1054)
- Dyspnea (HP:0002094): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1054)
- 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: Frequent (HP:0040282). (ORPHA:1054)
- Edema (HP:0000969): An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1054)
- 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:1054)
- Cough (HP:0012735): A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1054)
- 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:1054)
- Bacterial endocarditis (HP:0006689): A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1054)
- Oliguria (HP:0100520): Low output of urine, clinically classified as an output below 300-500ml/day. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1054)
- Chest pain (HP:0100749): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1054)