Partial atrioventricular septal defect
ORPHA:1330Morphological anomalyNot applicableAll ages
Фенотипы (HPO)25
Облигатный (100%)1
HP:0011577Partial atrioventricular canal defect
Частый (30–79%)6
HP:0001653Mitral regurgitation
HP:0001962Palpitations
HP:0002205Recurrent respiratory infections
HP:0002875Exertional dyspnea
HP:0009020Exercise-induced muscle fatigue
HP:0030148Heart murmur
Периодический (5–29%)18
HP:0001279Syncope
HP:0001636Tetralogy of Fallot
HP:0001643Patent ductus arteriosus
HP:0001647Bicuspid aortic valve
HP:0001650Aortic valve stenosis
HP:0001680Coarctation of aorta
HP:0001681Angina pectoris
HP:0001692Atrial arrhythmia
HP:0001702Abnormal tricuspid valve morphology
HP:0001719Double outlet right ventricle
HP:0002326Transient ischemic attack
HP:0004383Hypoplastic left heart
HP:0004749Atrial flutter
HP:0006689Bacterial endocarditis
HP:0010772Anomalous pulmonary venous return
HP:0011565Common atrium
HP:0030853Heterotaxy
HP:0031298Coronary sinus enlargement
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 20 | Europe | Value and class |
| Point prevalence | 1-5 / 10 000 | 30 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)