Minimally invasive endoscopic aortic valve replacement for alkaptonuria-associated severe aortic stenosis: a case report
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CASE REPORT
Minimally invasive endoscopic aortic valve replacement for alkaptonuria‑associated severe aortic stenosis: a case report and literature review Shinichiro Taniguchi1 · Takashi Shimada1 · Tatsuya Miyanaga1 Received: 24 April 2020 / Accepted: 11 September 2020 © The Japanese Association for Thoracic Surgery 2020
Abstract Alkaptonuria is an inherited metabolic disease caused by a genetic deficiency of homogentisate 1,2-dioxygenase and characterized by dark-brown connective tissue related to the deposition of oxidized homogentisic acid. Pigment deposition is also observed in the cardiovascular system, such as in the coronary arteries, cardiac valves, and aorta. Because aortic stenosis may develop secondary to pigment deposition-related calcification at the aortic valve, aortic valve replacement may be necessary for severe aortic valve disease. We report the case of a 75 year-old man with alkaptonuria-associated severe aortic stenosis who was successfully treated with minimally invasive endoscopic aortic valve replacement via right anterior minithoracotomy. The tricuspid aortic valve was severely calcified and both the valve and the aortic intima were ochronotic. No perioperative complications were observed and the postoperative course was uneventful. Keywords Minimally invasive aortic valve replacement · Alkaptonuria · Aortic stenosis
Introduction
Case
Alkaptonuria, an extremely rare inherited metabolic disease caused by a genetic deficiency of homogentisate 1,2-dioxygenase (HGO), a component of the tyrosine degradation pathway, is characterized by autosomal recessive inheritance [1]. The accumulation of homogentisic acid (HGA) leads to three major features—homogentisic aciduria, ochronosis, and arthropathy—and aortic stenosis (AS) is common in the cardiovascular system [1–3]. Severe aortic valve diseases caused by alkaptonuria are treated with surgical aortic valve replacement (SAVR), and reports examining prosthetic valve selection have shown that the prosthetic valves implanted depend on patient preference and age. Here, we report a case of alkaptonuria-associated severe AS successfully treated using minimally invasive aortic valve replacement via right anterior minithoracotomy and a literature review.
A 75 year-old man was admitted to our institution for evaluation of severe AS. Due to ochronotic spondyloarthropathy, he had previously undergone posterior lumbar interbody fusion surgery at 50 years of age. There was no history of endocarditis or rheumatic fever and no relatives had reported any signs or symptoms of alkaptonuria. He weighed 52 kg and had a body mass index of 22.2 kg/m2 and body surface area of 1.49 m2. The results of routine laboratory tests were normal, but his urinary HGA level was strongly positive. General examination showed the presence of black pigmentation in the cartilage of the outer ears and the sclerae of both eyes (Fig. 1). Auscultation revealed a systolic murmur (Levine grade 3/6) in the second intercostal right sternal border suggestive of AS, but the lungs were clea
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