室间隔是一个复杂的过程，涉及心脏发育的主要基因，作用于第一和第二心脏区域的心肌细胞，和心内膜垫的间充质细胞。这些基因,转录因子的编码，彼此互动，以及它们的差异表达决定了表型的严重程度。在这一章中,我们将描述正常心脏中室间隔的形成，以及导致室间隔缺损的四种主要解剖类型的分子机制：出口，入口,肌肉，和中央膜周，由于室间隔不同部位的发育失败。动物模型实验,特别是转基因小鼠系，帮助我们破译了室间隔的分子决定因素。然而,必须对这些模型中发现的解剖表型进行精确描述,才能更好地理解导致各种类型VSD的复杂机制.
Ventricular septation is a complex process which involves the major genes of cardiac development, acting on myocardial cells from first and second heart fields, and on mesenchymal cells from endocardial cushions. These genes, coding for transcription factors, interact with each other, and their differential expression conditions the severity of the phenotype. In this chapter, we will describe the formation of the ventricular septum in the normal heart, as well as the molecular mechanisms leading to the four main anatomic types of ventricular septal defects: outlet, inlet, muscular, and central perimembranous, resulting from failure of development of the different parts of the ventricular septum. Experiments on animal models, particularly transgenic mouse lines, have helped us to decipher the molecular determinants of ventricular septation. However, a precise description of the anatomic phenotypes found in these models is mandatory to achieve a better comprehension of the complex mechanisms responsible for the various types of VSDs.
