Complete atrioventricular septal defect
ORPHA:1329Morphological anomalyNot applicableInfancy, Neonatal
Фенотипы (HPO)34
Облигатный (100%)2
HP:0001674Complete atrioventricular canal defect
HP:0010445Primum atrial septal defect
Очень частый (80–99%)9
HP:0001508Failure to thrive
HP:0003115Abnormal EKG
HP:0005120Abnormal cardiac atrium morphology
HP:0012382Left-to-right shunt
HP:0025447Displacement of the papillary muscles
HP:0030950Pulmonary venous hypertension
HP:0030973Postexertional malaise
HP:0031650Abnormal atrioventricular valve physiology
HP:0031664Systolic heart murmur
Частый (30–79%)13
HP:0000961Cyanosis
HP:0000975Hyperhidrosis
HP:0001635Congestive heart failure
HP:0001640Cardiomegaly
HP:0001649Tachycardia
HP:0001667Right ventricular hypertrophy
HP:0001708Right ventricular failure
HP:0002240Hepatomegaly
HP:0002789Tachypnea
HP:0006532Recurrent pneumonia
HP:0011968Feeding difficulties
HP:0030828Wheezing
HP:0030864Intercostal retractions
Периодический (5–29%)9
HP:0001254Lethargy
HP:0001678Atrioventricular block
HP:0004890Elevated pulmonary artery pressure
HP:0011712Right bundle branch block
HP:0030830Crackles
HP:0030848Elevated jugular venous pressure
HP:0031595Abnormal P wave
HP:0031658Third heart sound
HP:0100786Hypersomnia
Очень редкий (1–4%)1
HP:0001999Abnormal facial shape
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
| Prevalence at birth | 1-5 / 10 000 | 20 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)