498 PERSISTENT FIFTH AORTIC ARCH IN A PATIENT WITH CHARGE SYNDROME: A CASE REPORT AND SYSTEMATIC REVIEW OF LITERATURE

Abstract Background CHARGE syndrome (CS) is a rare genetic disease characterized by constellation of clinical findings including Coloboma, Heart defects, choanal Atresia, Retardation growth and/or development, Genitourinary malformation and Ear abnormalities. We present case persistent fifth aortic arch (PFAA), an extremely congenital anomaly (AA), in child with genetically confirmed CS perform systematic review published studied, effort to examinate the distribution heart diseases (CHDs) their impact patients. Case presentations results A 12 years-old was referred our echocardiography laboratory for atypical chest pain. He had bilateral ocular coloboma, left hypoacusis, scoliosis, mild motor impairments, nocturnal enuresis, micropenis facial dysmorphisms. Molecular diagnostic testing identified de novo mutation (variant c.5290_5300+10del) CHD7 gene diagnosed. Echocardiography showed single posterolateral papillary muscle cleft anterior mitral leaflet. Interestingly, AA double-lumen appearance without Doppler signs coarctation. PFFA hypothesized then at angioCT. literature performed according PRISMA guidelines. All articles reporting association CHDs were chosen. total 975 records identified. After screening title abstract, assessed eligibility 219 papers. Finally, inclusion full-text analysis made 60 studies, which 37 reports 23 series. found that ventricular septal defects emerged as most prevalent defect (32%), followed atrial reported 23% cases. Complex also described. abnormalities high percentage (27%) patients, right 20% or not aberrant subclavian artery vascular ring, interrupted 5% cases, well coarctation 10%. Of note, almost half cases (49%) required cardiac surgery, mostly within 1 year from birth and, although outcome available minority death 30%. Conclusions Our first may be mistaken dissection. In comparison other syndromic diseases, prevalence patients mutations gene.