Aortic arch interruption
ORPHA:2299Morphological anomalyNot applicableInfancy, Neonatal
Фенотипы (HPO)32
Очень частый (80–99%)3
HP:0030148Heart murmur
HP:0032092Left ventricular outflow tract obstruction
HP:0032554Absent pulse
Частый (30–79%)14
HP:0000822Hypertension
HP:0000961Cyanosis
HP:0001627Abnormal heart morphology
HP:0001629Ventricular septal defect
HP:0001635Congestive heart failure
HP:0001712Left ventricular hypertrophy
HP:0002098Respiratory distress
HP:0002789Tachypnea
HP:0008872Feeding difficulties in infancy
HP:0010741Pedal edema
HP:0020142Blood pressure substantially higher in arms than legs
HP:0030973Postexertional malaise
HP:0031273Shock
HP:0031664Systolic heart murmur
Периодический (5–29%)12
HP:0001643Patent ductus arteriosus
HP:0001647Bicuspid aortic valve
HP:0001659Aortic regurgitation
HP:0001660Truncus arteriosus
HP:0001669Transposition of the great arteries
HP:0002315Headache
HP:0002875Exertional dyspnea
HP:0004417Intermittent claudication
HP:0005180Tricuspid regurgitation
HP:0011604Aortopulmonary window
HP:0011712Right bundle branch block
HP:0031784Abnormal ascending aorta morphology
Очень редкий (1–4%)3
HP:0001719Double outlet right ventricle
HP:0001750Single ventricle
HP:0010883Aortic valve atresia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.3 | Europe | Value and class |
| Point prevalence | Unknown | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)