Congenitally corrected transposition of the great arteries
ORPHA:216694Morphological anomalyNot applicableAll ages
Фенотипы (HPO)49
Очень частый (80–99%)6
HP:0001627Abnormal heart morphology
HP:0001629Ventricular septal defect
HP:0001702Abnormal tricuspid valve morphology
HP:0006705Abnormal atrioventricular valve morphology
HP:0011103Abnormal left ventricular outflow tract morphology
HP:0011553Discordant atrioventricular connection
Частый (30–79%)8
HP:0001631Atrial septal defect
HP:0001642Pulmonic stenosis
HP:0001662Bradycardia
HP:0005150Abnormal atrioventricular conduction
HP:0011539Atrial situs ambiguous
HP:0011552Ambiguous atrioventricular connection
HP:0030148Heart murmur
HP:0031546Cardiac conduction abnormality
Периодический (5–29%)32
HP:0000961Cyanosis
HP:0001508Failure to thrive
HP:0001635Congestive heart failure
HP:0001643Patent ductus arteriosus
HP:0001651Dextrocardia
HP:0001659Aortic regurgitation
HP:0001696Situs inversus totalis
HP:0001709Third degree atrioventricular block
HP:0001716Wolff-Parkinson-White syndrome
HP:0001750Single ventricle
HP:0003388Easy fatigability
HP:0004755Supraventricular tachycardia
HP:0004935Pulmonary artery atresia
HP:0005180Tricuspid regurgitation
HP:0005185Global systolic dysfunction
HP:0006699Premature atrial contractions
HP:0010316Ebstein anomaly of the tricuspid valve
HP:0011538Atrial situs inversus
HP:0011581Double outlet left ventricle
HP:0011590Double aortic arch
HP:0011621Gerbode ventricular septal defect
HP:0011663Right ventricular cardiomyopathy
HP:0011667Bilateral superior vena cava with bridging vein
HP:0011675Arrhythmia
HP:0011682Perimembranous ventricular septal defect
HP:0011688Supraventricular tachycardia with an accessory connection mediated pathway
HP:0011704Sick sinus syndrome
HP:0011705First degree atrioventricular block
HP:0011707Mobitz I atrioventricular block
HP:0012537Food intolerance
HP:0012722Heart block
HP:0031567Abnormal aortic valve cusp morphology
Очень редкий (1–4%)3
HP:0004749Atrial flutter
HP:0004756Ventricular tachycardia
HP:0011599Mesocardia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 3 | Worldwide | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)