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Atrial septal defect, sinus venosus type

ORPHA:99105Clinical subtypeAutosomal dominant, Not applicableAntenatal, Infancy, Neonatal

Ассоциированные гены (1)

CITED2
Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2
Disease-causing germline mutation(s) in
OMIM: 602937

Фенотипы (27)

Очень частый (80–99%)1
HP:0012382Left-to-right shunt
Частый (30–79%)8
HP:0001962Palpitations
HP:0002875Exertional dyspnea
HP:0003546Exercise intolerance
HP:0010772Anomalous pulmonary venous return
HP:0012378Fatigue
HP:0031546Cardiac conduction abnormality
HP:0031663Paradoxical splitting of the second heart sound
HP:0031664Systolic heart murmur
Периодический (5–29%)14
HP:0001692Atrial arrhythmia
HP:0002092Pulmonary arterial hypertension
HP:0002094Dyspnea
HP:0004749Atrial flutter
HP:0004755Supraventricular tachycardia
HP:0005110Atrial fibrillation
HP:0005115Supraventricular arrhythmia
HP:0005133Right ventricular dilatation
HP:0005180Tricuspid regurgitation
HP:0006699Premature atrial contractions
HP:0011700Automatic atrial tachycardia
HP:0011705First degree atrioventricular block
HP:0011712Right bundle branch block
HP:0011716Junctional ectopic tachycardia
Очень редкий (1–4%)4
HP:0001297Stroke
HP:0001635Congestive heart failure
HP:0001907Thromboembolism
HP:0006536Airway obstruction

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы