SURGERY IN THE DARK – A CASE OF CARDIAC OCHRONOSIS
DOI:
https://doi.org/10.48729/pjctvs.109Abstract
Alkaptonuria is a rare genetic disorder related to tyrosine metabolism. The cardiovascular manifestations are rare being the aortic stenosis the most commonly reported. We present a case of 72-year-old women who underwent aortic valve replacement with intraoperative findings in the aortic valve and the aortic wall suggestive of Cardiac Ochronosis. Once it is a rare disease there are issues related to the natural history of the disorder that still unknown, namely the type of aortic prothesis in use. For this reason, we find essential the documentation and follow-up of all these rare cases.
Downloads
References
Janocha S, Wolz W, Srsen S, et al. The human gene for alkaptonuria (AKU) maps to chromosome 3q. Genomics. 1994;19:5-8.
La Du BN. Alkaptonuria. In: Scriver CR, Beandet AL, Sly WS, Valle D, eds. Metabolic & Molecular Basis of Inherited Diseases. 8th ed. New York, NY: McGraw-Hill; 2001: 2109-2123.
Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphey MD, Fitzpatrick DL, et al. Natural history of alkaptonuria. N Engl J Med 2002;347(26):2111-21.
Steger, C. M. 2011. Aortic valve ochronosis: a rare manifestation of alkaptonuria. BMJ Case Rep. pii: bcr0420114119.
Magdy M El-Sayed Ahmed, MD, MSc, Omar Hussain, MD, MRCS, David A Ott, MD, FACS, FACC, and Muhammad Aftab, MD, FACC. Severe Aortic Valve Stenosis Due to Alkaptonuric Ochronosis. Seminars in Cardiothoracic and Vascular Anesthesia. Vol 21, Issue 4, pp. 364 – 366.
Gaines JJ Jr. The pathology of alkaptonuric ochronosis. Hum Pathol. 1989;20:40-46.
Helliwell TR, Gallagher JA, Ranganath L. Alkaptonuria: a review of surgical and autopsy pathology. Histopathology. 2008;53:503-512.
Gaines JJ Jr, Pai GM. Cardiovascular ochronosis. Arch Pathol Lab Med. 1987;111:991-994.
Selvakumar D, Sian K, Sugito S, Singh T. Ochronosis of the aortic valve. J Thorac Dis 2018;10(5):E332- E334.
de Cima S., Rodriguez-Esteban A., Mencía P., Pilar, Junceda S., Albaiceta G. Un caso raro de valvulopatía causada por alcaptonuria. Cir Cardiov. 2018;25(1):38–40
