P53 DOUBLE OUTLET RIGHT VENTRICLE IN PATIENT WITH XP11.23 DUPLICATION AND SYNDROMIC PHENOTYPE: BROADENING OF THE CLINICAL SPECTRUM

Abstract

Abstract DORV accounts for 2–3% of congenital heart disease (prevalence of 1/10,000). It is a cono–truncal anomaly with variable clinic. In 25–42.5% of cases there are chromosomal anomalies such as trisomy 13, 18, 22q11 microdeletion and possible associated anomalies such as facial and skeletal dysmorphisms, brain anomalies and renal agenesis. duplication Xp11.22–p11.23 was described in 2009 by Giorda and is characterized by intellectual disabilities, speech delay, epilepsy, and EEG abnormalities. We report the case of a patient with dupXp11.23 and major anomalies not reported in the literature. C.B. born from 1st pregnancy at 32+4 w, by cesarean section for fetal bradycardia and polyamnios; At first trimester screening, finding of large ventricular defect and high risk for trisomy 18 and 13. Non–resolving fetal DNA and normal 46XY karyotype. At birth weighing 1750 g, APGAR 1‘:3, 5‘:7,10‘: 8, he was intubated and transferred to intensive care. On physical examination: prominent frontal bumps, facial asymmetry with right hypoplasia, anterior plagiocephaly, microphthalmia, low–set left ear, large both pinnae, macroglossia, hypospadias. He underwent surgery for duodenal atresia and Meckel‘s diverticulum. In the following days poor clinical conditions, poor growth and manifestations of heart decompensation. On auscultation II tone of increased intensity, meso–pulmonary systolic murmur, hepatomegaly. The electrocardiogram showed normal sinus rhythm and signs of left ventricular hypertrophy. On echocardiogram Situs solitus –D loop Levocardia. Patent foramen ovale with middle left–right shunt, dilated left atrium, globular left ventricle, preserved systolic function. Poorly aligned arterial outflows emerging from the right ventricle. Large subpulmonary interventricular defect. Hyperflow flowmetry. Aortic arch dilated in the proximal tract. He therefore started therapy with furosemide. Subsequent monitoring showed poor growth for which cardiac surgery was indicated. This case report contributes to broadening the clinical spectrum of duplication syndrome Xp11.22–p11.23.