关键词: ACTC1 ASD AVSD Atrial septal defect Atrial septation Atrioventricular septal defect Common atrium Coronary sinusCoronarysinus Dorsal mesenchymal protrusion Dorsal mesocardium Down syndrome Endocardial cushions Endocardium GATA4GATA binding protein (GATA)GATA4 Hox transcription factors Knockout MGRN1 Mesenchymal cap NOS3 Ostium primum defect Ostium secundum defect Primary atrial foramen Primary atrial septumSeptumatrial Second heart field Sema3d Semaphorin Sinus venosus defect TBX5

Mesh : Heart Septal Defects, Atrial / genetics pathology physiopathology Animals Humans Disease Models, Animal Mutation Atrial Septum / pathology Signal Transduction / genetics

来  源:   DOI:10.1007/978-3-031-44087-8_25

Abstract:
The relative simplicity of the clinical presentation and management of an atrial septal defect belies the complexity of the developmental pathogenesis. Here, we describe the anatomic development of the atrial septum and the venous return to the atrial chambers. Experimental models suggest how mutations and naturally occurring genetic variation could affect developmental steps to cause a defect within the oval fossa, the so-called secundum defect, or other interatrial communications, such as the sinus venosus defect or ostium primum defect.
摘要:
房间隔缺损的临床表现和处理的相对简单性掩盖了发育发病机理的复杂性。这里,我们描述了房间隔的解剖发育和静脉回流到心房腔。实验模型表明,突变和自然发生的遗传变异如何影响发育步骤,从而导致椭圆形窝内的缺陷,所谓的secundum缺陷,或其他心房通信,如静脉窦缺损或原孔缺损。
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