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 2 – Rare genetic syndromes associated with cardiologic and ophthalmologic disturbances Condições Genéticas Adams- oliver Alstrom Botalli Duane Hutchinson- Gilford Leber McDonough Mowat- Wilson Óculo-facio- cardio-dental Okihiro Oto-palato- digital Peters PHACE Sjogren- Larsson-like Cardiologic findings AP + CIA + + + + + + CIV + + + + + + + CoAo + + Dext + + DAo + + DSVa + DSAV + EVM + EAo + EVAo + EP + + FE + PCA + + + + RM + TOF + + + VAOB + Ophthalmologic findings Extrinsic AI.CiI + + An.Palp Formal/ Posição + + + + + Estr + + + + + + + + + Hiper/Tel + + Microf + + Nist + + + PregaEp + Refractive errors and anterior segment abnormalities An.Corneana + + An.Palp Forma/ Posição + An. Pulpilares + + Caratarata ou An. de Posição + + + + Colob.I + ErrosRef + + + + + Glaucoma + + + Heterl + + Hipopl + Posterior segment abnormalities Alt.VRet + + + An.Disco Óptico + + Colob.C + DeslRet + Hemanl + Cardiologic findings: PA: pulmonary atresia; IAC: interatrial communication; IVC: interventricular communication; CoA: coarctation of the aorta; Dext: dextrocardia; AoD: aortic dilatation; DSVa: Dilatation of sinus of Valsalva; ASD Atrioventricular septal defect (AVSD); TMV: thickened mitral valve; AoS: aortic stenosis; AoVS: aortic valve stenosis; PS: pulmonary stenosis; EFE: endocardial fibroelastosis; PDA: patent ductus arteriosus; MR: mitral regurgitation; TOF: tetralogy of Fallot; BAV: bicuspid aortic valve Ophthalmologic findings: Extrinsic: eyelash Abn: Eyelash abnormalities; Changes in eyelid shape/position; Str: strabismus; Hyper/Tel: hypertelorism/telecanthus; Microph: microphtalmia; Nyst: nystagmus; EF: epicanthic fold Refractive errors and anterior segment abnormalities: Corneal Abn: corneal abnormality; Changes in eyelid shape/position; Pupillary Abn: pupillary abnormalities; Cataract or position abnormalities; I Colob.: Iris coloboma; RE: refractive errors; Glauc: glaucoma; IHeter: iris heterochromia; IHypop: iris hypoplasia Posterior segment abnormalities: Abn.RV: abnormal retinal vessels; ODAbn.: optic disk abnormalities; CColob: Choroid nerve coloboma; Ret det.: retinal detachment; IHeman: intraorbital hemangioma 87