Aortic Valve Involvement In A Patient with Alkaptonuria

Abstract

Inborn Error of Metabolism (IEM) is a group of uncommon disorders which has wide spectrum of presentation. Up till now more than 300 diseases have been documented. High probability of suspicion has to be kept in mind while diagnosing IEM. We report a 56 years old male who presented to the cardiologist with dyspnoea on exertion and chest pain. Further workup revealed aortic stenosis with single vessel coronary artery disease. Given his phenotypic appearance and history of premature large joint arthritis with right hip joint replacement at relatively young age led to the clinical diagnosis of alkaptonuria. He showed symptomatic improvement with medical treatment and was advised coronary artery bypass grafting with aortic valve replacement. Alkaptonuria is a genetic condition in which excessive amount of homogentisic acid is deposited in multiple organs of the body such as joints, skin, blood vessels, eye and heart. The most common manifestation is disabling arthritis leading to premature joint replacement. The involvement of cardiovascular system is reported rarely.