Ochronotic Heart Disease: A Case Report of Aortic Valve Replacement and Coronary Artery Bypass Grafting in a Patient with Alkaptonuria

Introduction: Alkaptonuria is an autosomal recessive genetic disorder that disrupts tyrosine metabolism, causing the buildup of homogentisic acid and its oxidized derivatives in tissues, including the heart, leading to potential health issues. Understanding Alkaptonuria pathophysiology and clinical manifestations is crucial for early recognition and appropriate management.Case Report: A 53-year-old man with severe aortic stenosis (AS) and coronary artery disease is scheduled for coronary artery bypass grafting (CABG) and aortic valve replacement (AVR) surgery. After median sternotomy and cardiopulmonary bypass, the aortotomy showed black discoloration of the aortic wall and valve.Conclusion: The patient's echocardiogram indicated very severe AS with thickened and calcified leaflets, moderate aortic regurgitation (AR), and mild mitral regurgitation (MR). The aortotomy revealed significant black discoloration of the aortic wall and valve, indicating a critical issue that demands immediate attention. These findings underscore the necessity for thorough preoperative assessment and careful perioperative management to improve outcomes.