Progress in CRELD1 gene on atrioventricular septal defect

Congenital heart disease(CHD) is a series of birth defect that can actually or potentially impact heart function , occurring 4‰～ 12‰ of live birth. Atrioventricular septal defect (AVSD) is a frequently CHD affecting the atrioventricular valves and septa. AVSD refers to a clinical spectrum of defects ranging from a complete AVSD to cleft mitral valve. AVSD occurs most frequently in Trisomy 21 syndrome. Research shows that the development defect of endocardial cushion caused by heredity and environment during different period of heart development leads to all kinds of AVSD. CRELD1 is the first identified gene associated with morbidity of AVSD.The research on this gene has important significance to find out the pathogenesis of AVSD and provide better prevention and cure methods. Key words: Atrioventricular septal defect;  CRELDI gene;  Trisomy 21 syndrome;  Endocardial cushion