Congenitally uncorrected transposition of the great arteries
ORPHA:860Morphological anomalyMultigenic/multifactorial, Not applicableAntenatal, Infancy, Neonatal
Фенотипы (HPO)33
Очень частый (80–99%)7
HP:0000961Cyanosis
HP:0001649Tachycardia
HP:0001693Cardiac shunt
HP:0011028Abnormality of blood circulation
HP:0011563Abnormal ventriculoarterial connection
HP:0012418Hypoxemia
HP:0030148Heart murmur
Частый (30–79%)19
HP:0000975Hyperhidrosis
HP:0001508Failure to thrive
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001633Abnormal mitral valve morphology
HP:0001635Congestive heart failure
HP:0001640Cardiomegaly
HP:0001641Abnormal pulmonary valve morphology
HP:0001643Patent ductus arteriosus
HP:0001667Right ventricular hypertrophy
HP:0002789Tachypnea
HP:0006704Abnormal coronary artery morphology
HP:0010772Anomalous pulmonary venous return
HP:0012303Abnormal aortic arch morphology
HP:0025074Abnormal QRS complex
HP:0031348Dextrotransposition of the great arteries
HP:0031349Levotransposition of the great arteries
HP:0032092Left ventricular outflow tract obstruction
HP:0200128Biventricular hypertrophy
Периодический (5–29%)5
HP:0001518Small for gestational age
HP:0001680Coarctation of aorta
HP:0002240Hepatomegaly
HP:0011611Interrupted aortic arch
HP:0012304Hypoplastic aortic arch
Очень редкий (1–4%)2
HP:0009800Maternal diabetes
HP:0011438Maternal teratogenic exposure
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 25 | Worldwide | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 24.25 | Europe | 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)