Atrial septal defect, ostium primum type
ORPHA:99106Clinical subtypeAutosomal dominant, Not applicableAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)38
Частый (30–79%)17
HP:0001653Mitral regurgitation
HP:0001712Left ventricular hypertrophy
HP:0001962Palpitations
HP:0002205Recurrent respiratory infections
HP:0002875Exertional dyspnea
HP:0004927Pulmonary artery dilatation
HP:0005133Right ventricular dilatation
HP:0005180Tricuspid regurgitation
HP:0011705First degree atrioventricular block
HP:0011712Right bundle branch block
HP:0012248Prolonged PR interval
HP:0012378Fatigue
HP:0031595Abnormal P wave
HP:0031658Third heart sound
HP:0031662Fixed splitting of the second heart sound
HP:0031664Systolic heart murmur
HP:0031687Abnormally loud pulmonic component of the second heart sound
Периодический (5–29%)21
HP:0000961Cyanosis
HP:0001279Syncope
HP:0001508Failure to thrive
HP:0001635Congestive heart failure
HP:0001678Atrioventricular block
HP:0001694Right-to-left shunt
HP:0001907Thromboembolism
HP:0002092Pulmonary arterial hypertension
HP:0002094Dyspnea
HP:0002105Hemoptysis
HP:0002789Tachypnea
HP:0002795Abnormal respiratory system physiology
HP:0003546Exercise intolerance
HP:0004749Atrial flutter
HP:0005110Atrial fibrillation
HP:0006536Airway obstruction
HP:0012398Peripheral edema
HP:0030718Right atrial enlargement
HP:0031295Left atrial enlargement
HP:0100759Clubbing of fingers
HP:0100760Clubbing of toes
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)