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 Table 1 – Common genetic syndromes associated with cardiologic and ophthalmologic disturbances Condições Genéticas Down Tumer Cat eye Velo-cardio- facial/DiGeorge Williams WAGR Rubinstein- Taybi Alagille Charge Kabuki Marfan Noonan Smith-Lemi- Opitz Goldenhar Poland- Mobius Cardiologic findings AP + EP + + + + CAo + EAo + + + CIA + + + + + + + + + CIV + + + + + + DSAV + + AVCI + DAP + Dext + + PVCSE + PCA + + + PVM + RVPA + TOF + + + + VAoB + + VMP + Ophthalmologic findings Extrinsic An. Lacrimal + + An.Pab Formal/Posição + + + + + + Colob. P + Estrabismo + + + + + + + + Hiper/Tel + + + + + Nistagmo + + + + Oft. Ext + + PregaEp + + + + + + Refractive errors and anterior segment abnormalities Anir + Alt. Córnea e Limbo + + + Catarata ou An. de Posição + + + + + + Colob. I + + + ErrosRef + + + + + Glaucoma + Hipop.I + M. Brush + Nód.I + ProemNC + Posterior segment abnormalities Alt.VRet + + + An. Disco Op + Colob. RNC + + Desc. Ret + + Drus.N.Op + Hem.V + Hipop.DFO + Hipop.M + M. NeovC + OACRet + Ret.P + Retinob + DispEPR + Cardiologic findings: PA: pulmonary atresia; AIVC: absent inferior vena cava; IAC: interatrial communication; IVC: interventricular communication; CoA: coarctation of the aorta; PAD: pulmonary artery dilation; ASD: atrioventricular septal defect; AoS: aortic stenosis; PLSVC: persistent left superior vena cava; MVP: mitral valve prolapse; APVR: anomalous pulmonary venous return; TOF: tetralogy of Fallot; BAV: bicuspid aortic valve; PMV: parachute mitral valve; Ophthalmologic findings: Extrinsic: Lacrimal An.: lacrimal anomalies; Changes in eyelid shape/position; Eyelid coloboma; Hyper/Tel: hypertelorism/telecanthus; Ext.Opht: external ophthalmoplegia; EF: epicanthic fold. Refractive errors and anterior segment abnormalities: Anir: aniridia; Changes in cornea and limbus; Cataract or position abnormalities; I Colob.: Iris coloboma; RE: refractive errors; IHypop: iris hypoplasia; Brushfield spots; INod.: Iris nodules; Prom.CN: prominent corneal nerves; Posterior segment abnormalities: Abn.RV: abnormal retinal vessels; OD Abn.: optic disk abnormalities; Ret/Optic/Choroid/Nerve Colob.: Retinal/ Optic/ Choroid nerve coloboma; Ret det.: retinal detachment; ODD: Optic Disk Drusen; Vit. Hem.: Vitreous hemorrhage; DH Fundus.: Diffuse hypopigmentation in the fundus; M Hypop.: macular hypoplasia; C Neov M.: choroidal neovascular membrane; Ret CAO: retinal central artery occlusion; Rret P.: retinitis pigmentosa; Retinob: retinoblastoma; spots in the retinal pigment epithelium. 86