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Ocular Manifestations of Cardiac Disease

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The Eye in Pediatric Systemic Disease

Abstract

Most pediatric cardiac disease is congenital heart disease. Likewise, most of the ocular manifestations are a product of a congenital defect as well. Disease findings, including systemic and ophthalmic manifestations, as well as management of congenital heart defects, hypertension, and mitral valve prolapse are covered. A table provides a comprehensive outline of syndromes that feature both cardiac and ocular defects.

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References

  1. Hoffman JI, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol. 2002;39(12):1890–900.

    Article  PubMed  Google Scholar 

  2. Posey WC. Cyanosis retinae. Trans Am Ophthalmol Soc. 1905;10(3):634–44.

    CAS  PubMed  PubMed Central  Google Scholar 

  3. Carpenter G. On congenital heart affections, especially in relation to the diagnosis of the various malformations. The Wightman lecture for 1909. Proc R Soc Med. 1909;2(Sect Study Dis Child):275–326.

    CAS  PubMed  PubMed Central  Google Scholar 

  4. Tyson HH. Cyanosis retinae. Trans Am Ophthalmol Soc. 1908;11(3):531–6.

    CAS  PubMed  PubMed Central  Google Scholar 

  5. Egbe A, Uppu S, Lee S, Ho D, Srivastava S. Prevalence of associated extracardiac malformations in the congenital heart disease population. Pediatr Cardiol. 2014;35(7):1239–45.

    Article  PubMed  Google Scholar 

  6. Greenwood RD, Rosenthal A, Parisi L, Fyler DC, Nadas AS. Extracardiac anomalies in infants with congenital heart disease. Pediatrics. 1975;55:485–92.

    CAS  PubMed  Google Scholar 

  7. Mansour AM, Bitar FF, Traboulsi EI, Kassak KM, Obeid MY, Megarbane A, Salti HI. Ocular pathology in congenital heart disease. Eye (Lond). 2005;19(1):29–34.

    Article  CAS  Google Scholar 

  8. Alfano JE. Ocular malformations associated with congenital heart disease. Am J Ophthalmol. 1966;62:963–4.

    Article  CAS  PubMed  Google Scholar 

  9. Newberger JW. Central nervous system complications. In: Moller JH, Hoffman JIE, editors. Pediatric cardiovascular medicine. 2nd ed. Oxford: Wiley-Blackwell; 2012.

    Google Scholar 

  10. Prevention of infective endocarditis. Guidelines from the American Heart Association. Circulation. 2007;116(15):1736–54.

    Article  Google Scholar 

  11. Gardiner PA, Joseph M. Eye defects in children with congenital heart lesions: a preliminary study. Develop Med Child Neurol. 1968;10:42–8.

    Article  CAS  PubMed  Google Scholar 

  12. Larned DC, Flanagan JC, Nelson LE, Harley RD, Wilson TW. The association of congenital ptosis and congenital heart disease. Ophthalmology. 1986;93(4):492–4.

    Article  CAS  PubMed  Google Scholar 

  13. Noonan JA, Ehmke DA. Associated non cardiac malformations in children with congenital heart disease. J Pediatr. 1963;63:469–70.

    Google Scholar 

  14. Sonoda T, Ohdo S, Ohba K, Okishima T, Hayakawa K. Association of congenital heart disease, blepharoptosis, and short stature. Jinrui Idengaku Zasshi. 1989;34(4):291–6.

    Article  CAS  PubMed  Google Scholar 

  15. Petersen RA, Rosenthal A. Retinopathy and papilledema in cyanotic congenital heart disease. Pediatrics. 1972;49(2):243–9.

    CAS  PubMed  Google Scholar 

  16. VanderVeen DK, Pasquale LR, Fulton AB. Central retinal vein occlusion in a young child with cyanotic heart disease. Arch Ophthalmol. 1997;115(8):1077.

    Article  CAS  PubMed  Google Scholar 

  17. Kohner EM, Allen EM, Saunders KB, Emery VM, Pallis C. Electroencephalogram and retinal vessels in congenital cyanotic heart disease before and after surgery. Br Med J. 1967;4(5573):207–10.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  18. Johns KJ, Johns JA, Feman SS, Dodd DA. Retinopathy of prematurity in infants with cyanotic congenital heart disease. Am J Dis Child. 1991;145(2):200–3.

    CAS  PubMed  Google Scholar 

  19. Polito A, Piga S, Cogo PE, Corchia C, Carnielli V, Da Fre M, et al. Increased morbidity and mortality in very preterm/VLBW infants with congenital heart disease. Intensive Care Med. 2013;39(6):1104–12.

    Article  PubMed  Google Scholar 

  20. Paulus YM, Moshfeghi DM. Persistent plus disease after laser in retinopathy of prematurity with tetralogy of Fallot. Eur J Ophthalmol. 2013;23(5):764–6.

    Article  PubMed  Google Scholar 

  21. Sauer C, Levingohn MW. Horner’s syndrome in childhood. Neurology. 1976;26(3):216–20.

    Article  CAS  PubMed  Google Scholar 

  22. Asch AJ. Turner’s syndrome occurring with Homer’s syndrome. Seen with coarctation of the aorta and aortic aneurysm. Am J Dis Child. 1979;133(8):827–30.

    Article  CAS  PubMed  Google Scholar 

  23. Naimer SA, Weinstein O, Rosenthal G. Congenital horner syndrome: a rare though significant complication of subclavian flap aortoplasty. J Thorac Cardiovasc Surg. 2000;120(2):419–21.

    Article  CAS  PubMed  Google Scholar 

  24. Chen SC, D’Souza N. Familial tetralogy of Fallot and glaucoma. Am J Med Genet. 1990;37(1):40–1.

    Article  CAS  PubMed  Google Scholar 

  25. Cornel G, Sharratt GP, Virmani S, Rosales T, Lacson A. Familial coarctation of the aortic arch with bilateral ptosis: a new syndrome? J Pediatr Surg. 1987;22(8):724–6.

    Article  CAS  PubMed  Google Scholar 

  26. Weichel ED, Vander JF, Tasman W, Benson WE. Diseases of the retina and vitreous. In: Nelson LB, Olitsky SE, editors. Harley’s pediatric ophthalmology. 6th ed. Philadelphia: Lippincott Williams & Wilkins; 2014.

    Google Scholar 

  27. Tsai FF, Spindle JD, Lazzaro EC, Olumba KC. Central retinal artery occlusion in a patient with tetralogy of Fallot. J AAPOS. 2013;17(6):621–2.

    Article  PubMed  Google Scholar 

  28. Punn R, Friedberg MK, Silverman NH. Echocardiography. In: Moller JH, Hoffman JIE, editors. Pediatric cardiovascular medicine. 2nd ed. Oxford: Wiley-Blackwell; 2012.

    Google Scholar 

  29. Thomson JDR, Qureshi SA. Cardiac catheterization and angiography. In: Moller JH, Hoffman JIE, editors. Pediatric cardiovascular medicine. 2nd ed. Oxford: Wiley-Blackwell; 2012.

    Google Scholar 

  30. NHLBI. National High Blood Pressure Education Program Working Group on High Blood Pressure in Children and Adolescents. The fourth report on the diagnosis, evaluation, and treatment of high blood pressure in children and adolescents. Pediatrics. 2004;114(2 Suppl 4th Report):555–76.

    Google Scholar 

  31. Greear JN. The Eye in hypertensive cardiovascular disease: a comparative ophthalmoscopic and pathologic study. Trans Am Ophthalmol Soc. 1940;38:397–469.

    CAS  PubMed  PubMed Central  Google Scholar 

  32. Court D. Malignant hypertension in childhood. Arch Dis Child. 1941;16(86):132–9.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  33. Falkner B. Hypertension in children and adolescents. In: Moller JH, Hoffman JIE, editors. Pediatric cardiovascular medicine. 2nd ed. Oxford: Wiley-Blackwell; 2012.

    Google Scholar 

  34. Strafford MA, Griffiths SP, Gersony WM. Coarctation of the aorta: a study in delayed detection. Pediatrics. 1982;69(2):159–63.

    CAS  PubMed  Google Scholar 

  35. Daniels SR, Lipman MJ, Burke MJ, Loggie JM. The prevalence of retinal vascular abnormalities in children and adolescents with essential hypertension. Am J Ophthalmol. 1991;111(2):205–8.

    Article  CAS  PubMed  Google Scholar 

  36. Skalina ME, Annable WL, Kliegman RM, Fanaroff AA. Hypertensive retinopathy in the newborn infant. J Pediatr. 1983;103(5):781–6.

    Article  CAS  PubMed  Google Scholar 

  37. Granstrom KO. Retinal changes in coarctation of the aorta. Br J Ophthalmol. 1951;35(3):143–8.

    Article  CAS  PubMed  Google Scholar 

  38. Walker GL, Stanfield TF. Retinal changes associated with coarctation of the aorta. Trans Am Ophthalmol Soc. 1952;50:407–14.

    CAS  PubMed  PubMed Central  Google Scholar 

  39. Shamsa K, Perloff JK, Lee E, Wirthlin RS, Tsui I, Schwartz SD. Retinal vascular patterns after operative repair of aortic isthmic coarctation. Am J Cardiol. 2010;105(3):408–10.

    Article  PubMed  Google Scholar 

  40. Eisalo A, Raitta C, Kala R, Halonen PI. Fluorescence angiography of the fundus vessels in aortic coarctation. Br Heart J. 1970;32(1):71–5.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  41. Ginsberg J, Ballard ET, Buchino JJ, Kinkler AK. Further observations of ocular pathology in Down’s syndrome. J Pediatr Ophthalmol Strabismus. 1980;17(3):166–71.

    CAS  PubMed  Google Scholar 

  42. Creavin AL, Brown RD. Ophthalmic abnormalities in children with Down syndrome. J Pediatr Ophthalmol Strabismus. 2009;46(2):76–82.

    Article  PubMed  Google Scholar 

  43. Al-Biltagi MA. Echocardiography in children with Down syndrome. World J Clin Pediatr. 2013;2(4):36–45.

    Article  PubMed  PubMed Central  Google Scholar 

  44. Young TL, Khazaeni LM, Bronwyn BJ. Genetics of eye disease. In: Nelson LB, Olitsky SE, editors. Harley’s pediatric ophthalmology. 6th ed. Philadelphia: Lippincott Williams & Wilkins; 2014.

    Google Scholar 

  45. Velzeboer CM, van der Harten JJ, Koole FD. Ocular pathology in trisomy 18. A histopathological report of three cases. Ophthalmic Paediatr Genet. 1989;10(4):263–9.

    Article  CAS  PubMed  Google Scholar 

  46. Jones KL, Jones MC, Del Campo M, editors. Smith’s recognizable patterns of human malformation. 7th ed. Philadelphia: Saunders; 2013.

    Google Scholar 

  47. Koole FD, Velzeboer CM, van der Harten JJ. Ocular abnormalities in Patau syndrome (chromosome 13 trisomy syndrome). Ophthalmic Paediatr Genet. 1990;11(1):15–21.

    Article  CAS  PubMed  Google Scholar 

  48. Chrousos GA, Ross JL, Chrousos G, Chu FC, Kenigsberg D, Cutler Jr G, et al. Ocular findings in turner syndrome. A prospective study. Ophthalmology. 1984;91(8):926–8.

    Article  CAS  PubMed  Google Scholar 

  49. Moller JH. Clinical history and physical examination. In: Moller JH, Hoffman JIE, editors. Pediatric cardiovascular medicine. 2nd ed. Oxford: Wiley-Blackwell; 2012.

    Chapter  Google Scholar 

  50. Chestler RJ, France TD. Ocular findings in CHARGE syndrome. Six case reports and a review. Ophthalmology. 1988;95(12):1613–19.

    Article  CAS  PubMed  Google Scholar 

  51. Pagon RA, Graham Jr JM, Zonana J, Yong SL. Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J Pediatr. 1981;99(2):223–7.

    Article  CAS  PubMed  Google Scholar 

  52. Lin AE, Chin AJ, Devine W, Park SC, Zackai E. The pattern of cardiovascular malformation in the CHARGE association. Am J Dis Child. 1987;141(9):1010–13.

    CAS  PubMed  Google Scholar 

  53. Braunlin EA. Cardiac involvement in the mucopolysaccharide disorders. In: Moller JH, Hoffman JIE, editors. Pediatric cardiovascular medicine. 2nd ed. Oxford: Wiley-Blackwell; 2012.

    Google Scholar 

  54. Nemet AY, Assia EI, Apple DJ, Barequet IS. Current concepts of ocular manifestations in Marfan syndrome. Surv Ophthalmol. 2006;51(6):561–75.

    Article  PubMed  Google Scholar 

  55. Shields JA, Shields CL. The systemic hamartomatoses (“Phakomatoses”). In: Nelson LB, Olitsky SE, editors. Harley’s pediatric ophthalmology. 6th ed. Philadelphia: Lippincott Williams & Wilkins; 2014.

    Google Scholar 

  56. Sarkozy A, Digilio MC, Dallapiccola B. Leopard syndrome. Orphanet J Rare Dis. 2008;3:13.

    Article  PubMed  PubMed Central  Google Scholar 

  57. Givens KT, Lee DA, Jones T, Ilstrup DM. Congenital rubella syndrome: ophthalmic manifestations and associated systemic disorders. Br J Ophthalmol. 1993;77(6):358–63.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  58. Russell-Eggitt IM, Taylor DS, Clayton PT, Garner A, Kriss A, Taylor JF. Leber’s congenital amaurosis—a new syndrome with a cardiomyopathy. Br J Ophthalmol. 1989;73(4):250–4.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  59. Kearns TP, Sayre GP. Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases. AMA Arch Ophthalmol. 1958;60(2):280–9.

    Article  CAS  PubMed  Google Scholar 

  60. Butler IJ, Gadoth N. Kearns-Sayre syndrome. A review of a multisystem disorder of children and young adults. Arch Intern Med. 1976;136(11):1290–3.

    Article  CAS  PubMed  Google Scholar 

  61. Eagle Jr RC, Hedges TR, Yanoff M. The atypical pigmentary retinopathy of Kearns-Sayre syndrome. A light and electron microscopic study. Ophthalmology. 1982;89(12):1433–40.

    Article  PubMed  Google Scholar 

  62. Moraes CT, DiMauro S, Zeviani M, Lombes A, Shanske S, Miranda AF, et al. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med. 1989;320(20):1293–9.

    Article  CAS  PubMed  Google Scholar 

  63. Charles R, Holt S, Kay JM, Epstein EJ, Rees JR. Myocardial ultrastructure and the development of atrioventricular block in Kearns-Sayre syndrome. Circulation. 1981;63(1):214–19.

    Article  CAS  PubMed  Google Scholar 

  64. Mansour AM, Wang F, Henkind P, Goldberg R, Shprintzen R. Ocular findings in the facioauriculovertebral sequence (Goldenhar-Gorlin syndrome). Am J Ophthalmol. 1985;100(4):555–9.

    Article  CAS  PubMed  Google Scholar 

  65. Greenwood RD, Rosenthal A, Sommer A, Wolff G, Craenen J. Cardiovascular malformations in oculoauriculovertebral dysplasia (Goldenhar syndrome). J Pediatr. 1974;85(6):816–18.

    Article  CAS  PubMed  Google Scholar 

  66. Chang TC, Summers CG, Schimmenti LA, Grajewski AL. Axenfeld-Rieger syndrome: new perspectives. Br J Ophthalmol. 2012;96(3):318–22.

    Article  PubMed  Google Scholar 

  67. Adam MP, Conta J, Bean LJH. Mowat-Wilson syndrome. 2007 Mar 28 [Updated 2013 Nov 26]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2014. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1412/.

  68. Coats DK, Paysse EA, Levy ML. PHACE: a neurocutaneous syndrome with important ophthalmologic implications: case report and literature review. Ophthalmology. 1999;106:1739–41.

    Article  CAS  PubMed  Google Scholar 

  69. Metry DW, Haggstrom AN, Drolet BA, Baselga E, Chamlin S, Garzon M, et al. A prospective study of PHACE syndrome in infantile hemangiomas: demographic features, clinical findings, and complications. Am J Med Genet A. 2006;140(9):975–86.

    Article  CAS  PubMed  Google Scholar 

  70. Holt H, Hunter DG, Smith J, Dagi LR. Pediatric Graves’ ophthalmopathy: the pre- and postpubertal experience. J AAPOS. 2008;12(4):357–60.

    Article  PubMed  Google Scholar 

  71. Goldstein SM, Katowitz WR, Moshang T, Katowitz JA. Pediatric thyroid-associated orbitopathy: the Children’s Hospital of Philadelphia experience and literature review. Thyroid. 2008;18(9):997–9.

    Article  PubMed  Google Scholar 

  72. Liu YP, Tsai WY, Wang JK, Wu MH. Reversible mitral valve prolapse and mitral regurgitation in children with Graves’ disease. J Pediatr Endocrinol Metab. 2004;17(9):1211–13.

    Article  PubMed  Google Scholar 

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Correspondence to Tara J. Guretzky M.D. .

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Guretzky, T.J., Dyke, P.C., Whitley, H.G. (2017). Ocular Manifestations of Cardiac Disease. In: Levin, A., Enzenauer, R. (eds) The Eye in Pediatric Systemic Disease. Springer, Cham. https://doi.org/10.1007/978-3-319-18389-3_4

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