A Novel FLNA Gene Mutation Associated With Congenital Atrioventricular Valve Dysplasia

FLNA (OMIM:300017) is important during the development of the embryonic heart and vasculature. The genotype-phenotype relationship of X-linked myxomatous valvular dystrophy caused by FLNA mutation has been reported. We report a new FLNA gene mutation in two male fetuses of a Chinese family whose transmission pattern of congenital heart disease was consistent with X-linked recessive inheritance. FLNA mutation should be considered as the cause in the family whose male members suffer from congenital valve dysplasia. Whole-exome sequencing is necessary for them to find the genetic cause of the heart anomalies.