Congenital aortic valve stenosis
ORPHA:3093Morphological anomalyInfancy, Neonatal
Фенотипы (HPO)17
Облигатный (100%)1
HP:0001650Aortic valve stenosis
Очень частый (80–99%)2
HP:0002875Exertional dyspnea
HP:0030148Heart murmur
Частый (30–79%)6
HP:0001712Left ventricular hypertrophy
HP:0004380Aortic valve calcification
HP:0005135Abnormal T-wave
HP:0005176Dysplastic aortic valve
HP:0010883Aortic valve atresia
HP:0025075Increased QRS voltage
Периодический (5–29%)6
HP:0001681Angina pectoris
HP:0001706Endocardial fibroelastosis
HP:0005162Abnormal left ventricular function
HP:0012664Reduced left ventricular ejection fraction
HP:0030850Abnormal pulse pressure
HP:0100584Endocarditis
Очень редкий (1–4%)2
HP:0001645Sudden cardiac death
HP:0012727Thoracic aortic aneurysm
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)