Balloon pulmonary valvuloplasty for valvular pulmonary stenosis in double outlet right ventricle incriminating 46,X,der(X)t(X;3)(q28;q13.2)mat in an infant

Abstract

Double outlet right ventricle (DORV) has never been logged on with the maternally inherited unbalanced translocation between chromosome X and chromosome 3; i.e., 46,X,der(X)t(X;3)(q28;q13.2)mat. We have recently encountered a 10.5-month-old female infant, who had been found to have intrauterine growth retardation at the 28th gestational weeks and was born with a low birth-weight (1395 g) at the 35th gestational week, presenting failure-tothrive in body weight and height, widened anterior fontanelle, facial dysmorphism, simian creases, cleft palate, and lip cyanosis (SpO2 of 72–78%) due to a constellation of DORV, subaortic ventricular septal defect, and severe valvular pulmonary stenosis (pressure gradients from 64 to 72 mmHg). Balloon pulmonary valvuloplasty was performed effectively to lessen the severity of the valvular pulmonary stenosis (pressure gradient dropped to 43 mmHg) and lip cyanosis (SpO2 elevated to 92–95%). Cytogenetic analysis of the proband's blood found a derivative chromosome X, and that of her parents' blood tracked down the gamete to be maternally inherited. To the best of our knowledge, DORV associated with 46,X,der(X)t(X;3)(q28;q13.2)