Congenital total pulmonary venous return anomaly
ORPHA:99125Morphological anomalyNot applicableNeonatal
Фенотипы (HPO)40
Очень частый (80–99%)1
HP:0002098Respiratory distress
Частый (30–79%)9
HP:0000961Cyanosis
HP:0001631Atrial septal defect
HP:0001649Tachycardia
HP:0002092Pulmonary arterial hypertension
HP:0002875Exertional dyspnea
HP:0011539Atrial situs ambiguous
HP:0011719Supracardiac total anomalous pulmonary venous connection
HP:0012378Fatigue
HP:0012763Paroxysmal dyspnea
Периодический (5–29%)25
HP:0000980Pallor
HP:0001629Ventricular septal defect
HP:0001640Cardiomegaly
HP:0001643Patent ductus arteriosus
HP:0001651Dextrocardia
HP:0001708Right ventricular failure
HP:0001719Double outlet right ventricle
HP:0001750Single ventricle
HP:0002033Poor suck
HP:0002089Pulmonary hypoplasia
HP:0002205Recurrent respiratory infections
HP:0002240Hepatomegaly
HP:0004383Hypoplastic left heart
HP:0004415Pulmonary artery stenosis
HP:0004887Respiratory failure requiring assisted ventilation
HP:0005180Tricuspid regurgitation
HP:0005253Increased anterioposterior diameter of thorax
HP:0005949Apneic episodes in infancy
HP:0009805Low-output congestive heart failure
HP:0011720Cardiac total anomalous pulmonary venous connection
HP:0011721Infracardiac total anomalous pulmonary venous connection
HP:0011722Mixed total anomalous pulmonary venous connection
HP:0030853Heterotaxy
HP:0030918Low 1-minute APGAR score
HP:0030919Low 5-minute APGAR score
Очень редкий (1–4%)5
HP:0001653Mitral regurgitation
HP:0001669Transposition of the great arteries
HP:0001680Coarctation of aorta
HP:0011560Mitral atresia
HP:0012304Hypoplastic aortic arch
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 8 | United States | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 9 | Worldwide | Value and class |
| Point prevalence | 1-9 / 100 000 | 9 | Worldwide | Value and class |
| Point prevalence | 1-9 / 100 000 | 8 | United States | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)