发育生物学与再生医学：ch2 Development of heart.ppt

1．malformation of outflow track （1） persistent truncus of arteriosus The truncus is failed to be divided into pulmonary artery and aorta artery for the reason of serious defect of the septum. The truncus rides on the left and right ventricle, which results in pulmonary hypertension. On the other hand, the baby shows cyanosis after birth due to the unenough oxygen in circulating blood . In the migrating neural crest cells, pax3 gene mutation leads to persistent truncus arteriosus. Wnt, BMP and VEGF signal pathways are related with the seperating of truncus. （2）transposition of the great arteries Pulmonary artery locates in front of the aorta and connected with left ventricle. The septum is straight, not spiral. Often accompanied by atrioventricular septal defect or patent ductus arteriosus. hspg2 mutant and Type II activin receptor inactivation. (3) Aortic stenosis and pulmonary artery stenosis The truncus is not seperated equally. The septum between aortic artery and pulmonary artery does not grow in linear way, which is easy to cause the interventricular septal defect. Pulmonary artery stenosis is related with connexin43 mutant. Tetralogy of Fallot （1）pulmonary artery stenosis （2）Ventricular septal defect （3）The large aortic shifts to the right and rides across the defective ventricular septal （4）Right ventricular hypertrophy. Tetralogy of Fallot is the most common cyanotic heart disease. 2．Atrial septal defect If the interatrial septum is defective or absent, then oxygen-rich blood can flow directly from the left side of the heart to mix with the oxygen-poor blood in the right side of the heart, or vice versa. This can lead to lower-than-normal oxygen levels in the arterial blood that supplies the brain, organs, and tissues. Some molecues relative to atrial septal defect： Holt-Oram syndrom—Tbx5 transcriptional factor GATA-4 mutant abolish the interaction between GATA-4 and Tbx5 Nkx2.5 is related with the formation of secondary septum