ABC | Volume 110, Nº1, January 2018

Review Article Oliveira et al Association of congenital heart diseases with ophthalmologic changes Arq Bras Cardiol. 2018; 110(1):84-90 Methods A systematic review was performed on the Medline database (Pubmed, Embase, Cochrane, Lilacs). The search strategy is found in Appendix I (access the link: http://publicacoes.cardiol. br/portal/2017/abc/english/v11001/pdf/i11001014_anexo. pdf) . Case reports and review studies on the association of ophthalmologic and cardiologic changes in genetic syndrome patients younger than 18 years, published until January 2016were consideredeligible. The searchwas performedby two independent investigators, whomade a systematic analysis of titles and abstracts, and extraction of methodological characteristics, number of patients and results of all articles retrieved using the search strategy. Articles describing changes in patients older than 18 years, and articles on patients without a genetic syndrome with cardiologic and ophthalmologic changes were not considered for analysis. This study was approved by the Research Ethics Committee of Rio Grande do Sul University Foundation of Cardiology (approval number 101593/2013-9). Results A total of 1,685 articles were identified, and 83 of them, related to genetic syndromes associated with CHDs and ophthalmologic disturbances, were included in the review. Most studies were case reports (Figure 1). Tables 1 and 2 describe cardiologic changes by syndrome and ophthalmologic findings by eye segment; themost and the least common genetic syndromes can be found in Table 1 and Table 2, respectively. The most frequently described genetic syndromes associated with CHD-related ocular changes were Down syndrome, velo-cardio-facial/DiGeorge syndrome, CHARGE syndrome and Noonan syndrome. The most common cardiac malformations (with different etiologies) were interatrial communication (77.4%), interventricular communication (51.6%), patent ductus arteriosus (35.4%), pulmonary artery stenosis (25.8%), and tetralogy of Fallot (22.5%). The highest number of possible cardiac repercussions was found in CHARGE (8), Cat eye (5), velo-cardio-facial (4), and Down (4) syndromes, with a mean of 2.9 cardiologic findings/syndrome. Regarding the occurrence of concomitant ocular findings, a mean of 4.6 findings were found among the most prevalent CHDs, especially in the velo-cardio-facial, Turner, cat eye, CHARGE and Goldenhar syndrome, and of 3.5 findings among the least common diseases (Table 2), especially the Peters, Phace, Bloch and Leber syndromes. External ocular disorders are the most common manifestations, with a mean of 2.4 findings/syndrome (among the most common syndromes), particularly Down syndrome, CHARGE syndrome, cat eye syndrome and velo-cardio-facial syndrome (Table 1), and a mean of 1.38 findings among the least common syndromes, with emphasis to Bloch, Duane, Mowat-Wilson, oculofaciocardiodental, Peters and Phace syndromes (Table 2). Refractive error was reported in Down, Turner, cat eye, velo‑cardio and Noonan syndromes, as well as in eight rare syndromes (Table 2). Anterior segment of the eye was more frequently affected in the velo-cardio-facial, Down, Peters and Figure 1 – Flowchart of the studies included in this review. 1685 Studies identified 4 Duplicate studies 1463 Studies excluded based on their titles and abstracts 135 Studies excluded based on eligibility criteria 83 Studies included 85