The Association of Congenital Ptosis and Congenital Heart Disease

Ruptured Aneurysm of the Sinus of Valsalva With Wildervanck Syndrome (Cervico-Oculo-Acoustic Syndrome), Blepharoptosis and Short Stature Case Report

“…In a large series of patients with congenital heart disease, blepharoptosis was reported as 0.96%, almost 20-fold that of the control population. 9 Larned et al speculated that an environmental influence acting between the 5 th and 8 th weeks of gestation might affect the development of muscle fibers in both the heart and the orbit, 10 so any impairment in differentiation of mesoderm at that time may relate to the blepharoptosis and various cardiovascular anomalies of the present patient. Regarding the combination of blepharoptosis and short stature, Sonoda et al reported 12 cases of congenital heart disease with ptosis and short stature without chromosomal aberration nor recognizable malformation syndromes such as Noonan syndrome or mitochondrial encephalomyopathy.…”

Ocular pathology in congenital heart disease

“…39 Only 11% of patients with colobomas have the CHARGE association. 15 The association of ptosis with CHD 26 was first noted in 1986. Larned et al 26 reviewed 156 cases of congenital ptosis and found seven nonsyndromic cases with CHD divided into pulmonic stenosis (three), ventricular septal defect (three), and patent ductus arteriosus (one).…”

“…1,2 Both environmental factors and genetic factors have been implicated. 1,2 Ocular studies in CHD are few and have concentrated on one cardiac anomaly, [3][4][5][6][7][8] one syndrome with cardiac anomaly, [9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][24][25] small series, single case reports, [26][27][28] or literature review. 29 Ocular findings in CHD were not revisited for the past 25 years.…”

Macular and peripapillary retinal nerve fibre layer thickness in patients with cyanotic congenital heart disease

“…3,4 Strabismus, optic nerve hypoplasia and papilledema have been reported in patients with CHD, in addition to associations with ptosis and cataract. [5][6][7][8][9][10][11][12][13][14][15][16] Congenital cardiac disorders have effects on the retinal vasculature, with a high prevalence of retinal vessel tortuosity and venous dilation. [6][7][8][9]15,16 Blood flow to the optic nerve and the retina varies according to local metabolic demand.…”