The incidence of congenital heart disease (CHD) varies depending on methodologies of research. The incidence of moderate to severe forms of CHD is about 6/1,000 live births. The incidence is as high as 75/1,000 live births if small, trivial lesions are included [1]. While the cause of most CHD is classically thought to be multifactorial in origin, genetic syndromes cause a significant number of cases. The prevalence of extracardiac malformations associated with CHD was reviewed in the Nationwide Inpatient Sample database from 1998 to 2008 by Egbe, et al. Their group found the total prevalence of extracardiac malformations to be 13.6 %. The prevalence for nonsyndromic malformations was 11.4 % and the prevalence for genetic syndromes was 2.2 %. The most common malformations involved the musculoskeletal, central nervous system, and renal-urinary systems. They hypothesized that the epidemiology of patients with congenital anomalies has been altered by changes in prenatal factors, such as termination of pregnancy for fetal anomalies and prenatal vitamin supplementation [5]. Indeed, other studies have found higher rates of extracardiac malformations , ranging from 25 to 44 % [6, 7].

It is not widely known, but many patients with CHD have a much higher incidence of ocular manifestations as well. In a review of 500 patients with CHD aged six days to fifteen years, Alfano noted that 14.4 % of these patients had an abnormality of either the eyes or the ocular adnexa [8]. A large number of recognizable syndromes consist of abnormalities involving multiple systems. The specific association of these abnormalities may be important in delineating the etiology and pathogenesis of the syndrome. The association of cardiac and eye defects is common in many of these multiple malformation syndromes. See Table 4.1 for a complete listing of disorders that contain cardiac and ocular abnormalities.

Heart disease presents in the newborn and young infant in a variety of ways, including respiratory distress, cyanosis , shock, arrhythmia, and heart murmur. The older infant or child generally presents with feeding difficulties, tachypnea, failure to thrive, and heart murmur. Many children with CHD are asymptomatic. Diagnostic modalities include electrocardiography, echocardiography, cardiac catheterization, and cardiac magnetic resonance imaging. Echocardiography is the primary diagnostic tool used to define cardiac anatomy in children.

Rare complications of CHD include stroke and cerebral abscess. Stroke tends to occur in young children less than two years of age, and the predisposing conditions include endocarditis, a right to left shunt that allows paradoxical emboli to the brain, and increased blood viscosity. Neurologic signs include acute hemiplegia, local or generalized seizures, and ataxia. Cerebral abscess results from a local suppurative infection of brain tissue, and the most important mechanism predisposing to this condition is the right to left shunting of blood. Signs of increased intracranial pressure are predominant in cerebral abscess. Neuro-ophthalmologic signs may be common to both, including papilledema, third and sixth cranial nerve palsies resulting in diplopia, abnormal pupillary findings, and ptosis [9].

Infective endocarditis is defined as a bacterial or fungal infection of the endocardium, heart valves, or related structures. Risk factors for endocarditis include congenital heart disease, intravascular hardware such as central venous catheters, intravenous drug use, immunosuppression, and a previous diagnosis of endocarditis. The American Heart Association recommends antibiotic prophylaxis prior to procedures known to cause bacteremia for people with cyanotic heart disease, a previous diagnosis of endocarditis, within six months of intracardiac surgery, after surgery for congenital heart disease with a residual lesion adjacent to prosthetic material, or after cardiac transplantation with valvulopathy. The most common presenting symptoms include prolonged fever, malaise, and arthralgias. Common exam findings include weight loss, splenomegaly, petechiae, new or changing heart murmur , heart failure, and embolic events. Emboli to the cerebral circulation are not very common [10].

A prospective study from 1968 attempted to define the types of eye defects in a group of 85 children with various types of both cyanotic and acyanotic heart disease [11]. This study had some notable design flaws: these children were all over the age of six years, had no major congenital malformations, and the study was completed before corrective cardiac surgery was available for many of these heart defects. The eye conditions that were surveyed were amblyopia, strabismus, structural defects, and refractive anomalies.

Patients with cyanotic disease, including tetralogy of Fallot (TOF) and dextrotransposition of the great arteries (TGA), had the highest incidence of ophthalmic abnormalities at 86 %. Patients with acyanotic lesions characterized by obstruction including aortic stenosis and pulmonary stenosis, had a 64 % incidence of eye abnormalities. Acyanotic left to right shunts, such as atrial septal defect , ventricular septal defects, and patent ductus arteriosus had ophthalmic abnormalities in 49 % [11].

All four types of ophthalmic defects were more common in the cyanotic patients. The overall incidence of strabismus was 14 %, but this incidence doubled in the cyanotic patients at 28 %. Structural defects were highest in the cyanotic patients. Amblyopia was present in one or both eyes of 50 % of the cyanotic TOF patients. In contrast, only 15 % of children with other heart lesions had amblyopia. Overall, 12 % were hyperopic and 24 % myopic. In cyanotic TOF patients, 38 % were myopic [11].

This study required strict criteria for eye normality, and many of these eye defects were minor and did not require intervention. The eyes of children with left to right shunts were probably little different from normal populations since many of their defects were of a trivial nature. The results as a whole showed a trend for more ocular lesions in the acyanotic obstructive group, and an even higher incidence in cyanotic patients [11].

Of the total group of 85 children, 23 had eye lesions reducing their visual acuity to 6/18 or less. With thorough ophthalmologic evaluation nine of these patients had severe visual defects not detected previously. The authors concluded that screening exams were certainly warranted in cyanotic patients [11]. In the modern era it is difficult to generalize these data to current practice, however, because medical and surgical therapy for most forms of congenital heart disease is quite different now than it was in 1968.

Several investigators have noted the association of ptosis with CHD [12–14]. Larned reviewed the records of 156 cases of congenital ptosis that presented to the pediatric ophthalmologic clinic at a major eye hospital [12]. Seven cases of documented structural heart defects were detected, with an observed frequency of 4.4 % (five times the incidence of CHD in the general population). Of note was the fact that all the heart defects were acyanotic, which was also noted in the 12 patients described by Sonoda [14]. The conclusion of these investigators is that the association of ptosis with acyanotic heart disease might be specific, but the etiology of this association is unknown [12].