Ophthalmic Indicators of Cardiac Pathology

Nada Ali

Introduction

Ophthalmologists frequently encounter subtle yet clinically meaningful signs of systemic disease, as the eye’s complex vascular and neural architecture provides a uniquely accessible window into overall health. Ocular findings often reflect underlying cardiovascular pathology and may precede overt cardiac symptoms (1-3). Ng et al. argue that ocular examination should be considered an integral component of cardiovascular assessment, given the frequency with which systemic and cardiac diseases manifest in the eye (4).

The eye can be involved either as a primary site of ocular disease or as an indicator of systemic conditions, including cardiovascular disorders. Common cardiovascular risk factors such as hypertension and diabetes often present as hypertensive or diabetic retinopathy, while dyslipidaemia may be indicated by the presence of corneal arcus and xanthelasma (4). Multisystem autoimmune conditions, including Graves’ disease, rheumatoid arthritis, and sarcoidosis, may present with proptosis, episcleritis, or scleritis, respectively. Connective tissue disorders, such as Marfan syndrome, which are frequently associated with aortic root dilation, are also linked to ocular findings, including ectopia lentis and high myopia. Metabolic diseases further exemplify this relationship: Wilson’s disease, associated with cardiomyopathy and arrhythmias, classically presents with Kayser– Fleischer rings, while Fabry disease may cause cornea verticillata alongside cardiac hypertrophy and rhythm disturbances (4).

This review examines how specific ophthalmic findings can serve as clinically meaningful indicators of cardiac disease, with particular emphasis on Carney complex and infective endocarditis.

Carney Complex: Ophthalmic Findings and Clinical Implications

Carney complex is a rare autosomal dominant disorder characterised by multiple neoplasms and distinctive pigmented lesions, with cardiac myxomas representing one of its most serious and potentially life-threatening manifestations (5-6). Ophthalmic findings are often among the earliest clinical manifestations and may precede recognition of systemic involvement. These ocular features are closely linked to mutations in the PRKAR1A gene, which result in dysregulation of protein kinase A signalling and lead to uncontrolled cellular proliferation, tumour formation, and abnormal pigmentation (5,7).

Eyelid myxomas are a hallmark ocular feature of Carney complex and have been documented in patients in whom PRKAR1A haploinsufficiency alone was sufficient to drive tumourigenesis (8). Lentigines, another defining feature, commonly affect the eyelids, periocular skin, and other mucocutaneous surfaces and may be present from early childhood. These pigmented lesions result from altered melanocyte activity secondary to the underlying genetic defect and are highly suggestive of the diagnosis (5-6).

The clinical importance of these ocular findings is highlighted by multiple reports demonstrating their role in facilitating early diagnosis (6). Recognition of eyelid lentigines or conjunctival pigmentation has led to the identification of otherwise asymptomatic cardiac myxomas through targeted echocardiographic screening, enabling timely surgical intervention and reducing the risk of embolic or obstructive complications (9-10). Early identification is particularly important in paediatric patients, as cardiac myxomas may recur and carry significant morbidity if not promptly diagnosed and managed (11).

Infective Endocarditis: Ophthalmic Manifestations

Infective endocarditis may present with a range of ophthalmic manifestations, which can occasionally serve as the initial clinical indicators of disease (12-14). These ocular findings arise primarily from septic embolization or immune complex deposition originating from infected cardiac valves. Embolic material can occlude retinal vessels, resulting in ischemic or haemorrhagic changes, while immune-mediated mechanisms may provoke inflammatory responses within ocular tissues (12-14).

One of the most recognised ocular signs of infective endocarditis is the presence of Roth spots, which appear as retinal haemorrhages with pale centres and are thought to result from immune complex deposition or embolic phenomena. Although not specific to infective endocarditis, their detection should prompt consideration of systemic infection and cardiovascular evaluation (13,15). Retinal arterial occlusion represents a more severe embolic complication and typically presents as sudden, painless vision loss, constituting an ophthalmic emergency with significant implications for systemic management (16).

Endogenous endophthalmitis is among the most devastating ocular complications of infective endocarditis and results from haematogenous spread of pathogens from infected cardiac valves to the eye. This intraocular infection can progress rapidly, leading to irreversible vision loss and increased morbidity in affected patients (17-18). The identification of any of these ocular manifestations necessitates urgent systemic evaluation, as infective endocarditis remains a life-threatening condition requiring prompt multidisciplinary management.

Conclusion

The close anatomical and physiological relationship between the eye and the cardiovascular system positions ophthalmic findings as valuable indicators of systemic disease. From the distinctive pigmented lesions and eyelid myxomas associated with Carney complex to the embolic and inflammatory ocular manifestations of infective endocarditis, ocular signs can provide critical diagnostic information that precedes severe cardiac complications. Recognition of these findings supports earlier diagnosis, timely intervention, and improved patient outcomes, underscoring the importance of integrating ophthalmic observations into cardiovascular care.

References

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