![]() Of note, almost half of the cases (49%) required cardiac surgery, mostly performed within 1 year from birth and, although outcome was available in a minority of patients, the death was reported in almost 30%. Interestingly, AA abnormalities were reported in a high percentage (27%) of patients, right AA in 20% in association or not with aberrant subclavian artery and vascular ring, interrupted AA in 5% of cases, as well as aortic coarctation in 10%. Individuals with this syndrome might have varied associated. Atresia choanae is a developmental defect where the back of the nasal passage is blocked, narrowed, or not connected to the throat. We found that ventricular septal defects emerged as the most prevalent heart defect (32%), followed by atrial septal defects reported in 23% of cases. The word ‘charge’ is an acronym for coloboma- a defect where a fissure is commonly found at the back of an eye, heart defect, or atresia choanae. Finally, inclusion and full-text analysis was made in 60 studies, of which 37 case reports and 23 case series. After the screening of title and abstract, assessed for eligibility were 219 papers. All published articles reporting the association CS and CHDs were chosen. The heart defect commonly seen in CHARGE association is tetralogy of Fallot (33). A systematic review of the literature was performed according to PRISMA guidelines. But in our case ohigohydraminos was present. Ram Kumar1,3, Chee Ern David Wong1, Zhiyu Tian1, Haipeng Bai1,4, J. ![]() A PFFA was hypothesized and then confirmed at angioCT. Craniofacial and cardiac defects in chd7 zebrash mutants mimic CHARGE syndrome Yuhan Sun1,2, S. Interestingly, AA had a double-lumen appearance without Doppler signs of coarctation. Echocardiography showed a single posterolateral papillary muscle and a cleft of anterior mitral leaflet. Molecular diagnostic testing identified a de novo mutation (variant c.5290_5300+10del) in the CHD7 gene and CS was diagnosed. He had bilateral ocular coloboma, left hypoacusis, scoliosis, mild motor impairments, nocturnal enuresis, micropenis and facial dysmorphisms. A 12 years-old child was referred to our echocardiography laboratory for atypical chest pain.
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