![]() 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%. 321 Congenital heart defects in CHARGE syndrome patients with CHD7 mutations. 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%. Conclusion: Focal subepicardial hypersignal on cardiac MRI associated increased troponin enzymes allowed to make the definitive diagnosis of acute myocarditis in children who presented with symptoms that dated less than 7 days. We found that ventricular septal defects emerged as the most prevalent heart defect (32%), followed by atrial septal defects reported in 23% of cases. 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. The heart defect commonly seen in CHARGE association is tetralogy of Fallot (33). All published articles reporting the association CS and CHDs were chosen. But in our case ohigohydraminos was present. A systematic review of the literature was performed according to PRISMA guidelines. A PFFA was hypothesized and then confirmed at angioCT. The largest single study of individuals with CHARGE syndrome examining the spectrum of congenital heart defects included 299 individuals with CHARGE syndrome Corsten-Jassen et al (Nicole Corsten-Janssen et al., 2013). 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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