Kobylińska Joanna, Dworzański Wojciech, Cendrowska-Pinkosz Monika, Dworzańska Anna, Hermanowicz-Dryka Teresa, Kiszka Joanna, Starosławska Elżbieta, Burdan Franciszek
Katedra i Zakład Anatomii Prawidłowej Człowieka Uniwersytet Medyczny w Lublinie.
Postepy Hig Med Dosw (Online). 2013 Sep 10;67:950-7. doi: 10.5604/17322693.1066060.
The heart is a mesoderm-derived organ, whose formation is regulated by various genes. Initially, the most important is expression of Nkx2.5, CR1, pitx2, anf and mhc2a, which are responsible for differentiation of cardiomyocytes. In a later phase activation of mhc2b, pitx2c, mesp1, pcmf1, vmhc, xin, mcl2v, mlc2a, mlc2a, mef2, hand1 and hand2 was revealed. Their expression is regulated by various molecules, including transcription (XIN, GATA, MEF, Tbx5, Baf60c, PECAM, tie-2, MEF2) and growth (VEGF, FGF, PDGF) factors, as well as proteins (i.e., dickkopf-1, cerberus, cytotactin, fibrillin, nodal, thrombomodulin, Wnt, bone morphometric ones - BMP2, BMP 4, BMP5, BMP7) and other substances, such as retinoid and folic acid. Crucial steps in cardiac organogenesis are development of the ventricle and atrial formation, as well as septation and valve formation. Any disturbances of such processes may lead to various congenital heart diseases and defects that could be initiated by various genetic, epigenetic or environmental factors. The most common heart malformations are: stenosis (coarctation) of the aorta and pulmonary trunk, bicuspid aortic valve, atrial and/or ventricular septal defect, persistent truncus arteriosus (Botallo duct), transposition of the great vessels, tricuspid atresia, hypoplastic left and right heart, as well as syndrome of Lutembachera, Cantrell, Ebstein, Eisenmenger and Shone and trilogy, tetralogy, pentalogy of Fallot.
心脏是一个中胚层来源的器官,其形成受多种基因调控。最初,最重要的是Nkx2.5、CR1、pitx2、anf和mhc2a的表达,它们负责心肌细胞的分化。在后期阶段,发现了mhc2b、pitx2c、mesp1、pcmf1、vmhc、xin、mcl2v、mlc2a、mlc2a、mef2、hand1和hand2的激活。它们的表达受多种分子调控,包括转录(XIN、GATA、MEF、Tbx5、Baf60c、PECAM、tie-2、MEF2)和生长(VEGF、FGF、PDGF)因子,以及蛋白质(如dickkopf-1、cerberus、cytotactin、fibrillin、nodal、thrombomodulin、Wnt、骨形态发生蛋白 - BMP2、BMP 4、BMP5、BMP7)和其他物质,如类视黄醇和叶酸。心脏器官发生的关键步骤是心室发育、心房形成,以及间隔和瓣膜形成。这些过程的任何干扰都可能导致各种先天性心脏病和缺陷,这些疾病和缺陷可能由各种遗传、表观遗传或环境因素引发。最常见的心脏畸形包括:主动脉和肺动脉干狭窄(缩窄)、二叶主动脉瓣、房间隔和/或室间隔缺损、永存动脉干(博塔洛导管)、大血管转位、三尖瓣闭锁、左心和右心发育不全,以及鲁滕巴赫拉、坎特雷尔、埃布斯坦、艾森曼格和肖恩综合征及三联征、法洛四联症、法洛五联症。