Severe Aortic Valve Stenosis Due to Alkaptonuric Ochronosis

Abstract

Alkaptonuric ochronosis is a rare cause of aortic valve stenosis. We report the case of a 61-year-old female patient with alkaptonuria who presented to our institute with the clinical picture of severe aortic valve stenosis, which was confirmed by transthoracic echocardiography. On aortotomy, she was noted to have an impressive black discoloration of ascending aorta and the aortic root complex involving the aortic valve leaflets. She underwent an uneventful aortic valve replacement. She was discharged home 10 days postoperatively.

Long-term follow-up of bilateral hip and knee arthroplasty secondary to ochronotic arthropathy

“…Accumulation of HGA causes the classic clinical triad: homogentisic aciduria, gradual development of ochronosis, and degenerative ochronotic arthropathies. Cardiac involvement in alkaptonuria is rare and mainly manifested as valvular calcification [13]. As renal clearance of HGA decreases with age, clinical manifestations of alkaptonuric ochronosis are usually delayed, not appearing until the fourth decade of life [14].…”

Advancing the Scientific and Educational Basis of Perioperative Cardiothoracic and Transplant Care

“…The authors present the surgical case for this patient that was found to have alkaptonurin ochronosis and present very unique descriptive findings at surgery as well as the pathologic basis of the disease. 15…”

“…The authors present the surgical case for this patient that was found to have alkaptonurin ochronosis and present very unique descriptive findings at surgery as well as the pathologic basis of the disease. 15 In our December issue of the SCVA, we have compiled contemporary articles on perioperative noninvasive hemodynamic monitoring, on management of patients presenting with different preexisting heart conditions undergoing cardiac surgery or related procedures, on dexmedetomidine use in pediatric cardiac catheterization procedures, and genetically driven variability in dexmedetomidine response in pediatric patients. With the overarching goal of SCVA to support the mission of the Society for the Advancement of Transplant Anesthesia, our journal is also publishing a white paper advocating measurable proficiency in training of future to be fellows in liver transplant anesthesia, which we sincerely hope will serve as an initial process for our journal to become a leader in facilitating the improvement of perioperative management of patients undergoing liver transplantation.…”