Cardiac Manifestations of Alkaptonuria

Abstract

Background

Alkaptonuria is a rare autosomal recessive disorder characterized by homogentisic acid accumulation, leading to ochronosis and multisystemic manifestations including cardiovascular complications.

Case Summary

A 63-year-old male with a known family history of alkaptonuria presented with dyspnea and severe aortic stenosis. Coronary angiography revealed diffuse, severe calcific coronary artery disease The patient underwent successful mechanical aortic valve replacement, revealing characteristic ochronotic pigmentation intraoperatively.

Discussion

Cardiovascular involvement in alkaptonuria, although rare, can cause sever valvular and coronary artery disease. Early recognition through biochemical testing and imaging is essential. Early-onset valvular disease should raise suspicion of underlying systemic disorders such as alkaptonuria.

Take-Home Messages

Alkaptonuria, although primarily known for musculoskeletal and connective tissue involvement, can lead to significant cardiovascular complications. Routine screening with echocardiography and computed tomography coronary angiography should be considered in patients with alkaptonuria to detect early valvular and coronary artery disease in order to ensure timely intervention.