Narrowing of the dark valve: aortic stenosis in alkaptonuria
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CASE REPORT
Narrowing of the dark valve: aortic stenosis in alkaptonuria Ketak Nagare 1
&
Mohammed Idhrees 1 & Mohammed Ibrahim 1 & Aju Jacob 1 & Bashi Velayudhan 1
Received: 14 July 2020 / Revised: 7 September 2020 / Accepted: 9 September 2020 # Indian Association of Cardiovascular-Thoracic Surgeons 2020
Abstract The commonest cardiac pathology in patients with alkaptonuria is aortic stenosis. Patients with alkaptonuria and aortic stenosis may remain asymptomatic until the 6th decade. Surgeons may have to deal with per-operative difficulties as alkaptonuria is a systemic disease. Proper preoperative planning is important. The mechanical valve prosthesis is advisable in a patient with alkaptonuria and aortic stenosis considering disease pathophysiology. We report a 70-year-old male diagnosed with alkaptonuria and aortic stenosis, who underwent aortic valve (mechanical valve prosthesis) and ascending aorta replacement. Keywords Alakptonuria . Aortic stenosis . Aortic valve replacement . Ascending aorta replacement
Introduction
Case report
Alkaptonuria (ALK) is a rare autosomal recessive genetic disorder with a worldwide incidence of 1 per 250,000 live births. It occurs due to a deficiency of homogentisic acid dioxygenase (HGAD) which metabolizes homogentisic acid (HGA) to maleylacetoacetic acid during tyrosine metabolism. As a result of this, HGA accumulates in excess and is polymerized into blue-black pigments. The major clinical manifestations of this disorder are deposition of pigmented benzoquinone polymeric oxidation products of HGA in many tissues in the body, most commonly the joints, cardiovascular system, kidney, and skin [1]. The commonest cardiac pathology in patients with ALK is aortic stenosis (AS) [2]. Other cardiac manifestations with ALK include coronary artery disease, valvular lesions (aortic valve regurgitation, mitral valve regurgitation, tricuspid valve regurgitation), and aortic root diseases [3]. Patients with ALK may remain asymptomatic until the 6th decade. The incidence of cardiac pathology is higher in patients with ALK, as compared to the general population. We report a 70-year-old male diagnosed with ALK and AS, who underwent aortic valve and ascending aorta replacement.
A 70-year-old male, known case of ALK with AS, on regular follow-up for 4 years presented with dyspnea on exertion (grade II as per New York Heart Association classification for heart failure). He underwent total left knee replacement (TKR) surgery 10 years before and the biopsy of cartilage showed a typical pattern of ochronosis (Fig. 1). Following TKR, he had restricted domestic activities. Further, he had features of arthritis of the multiple joints, including the right knee joint, bilateral hip joints, and right shoulder joint. Laboratory investigation revealed a prolonged clotting time. Urine examination showed a significant amount of homogentisic acid. The urine turned dark on stagnation—a characteristic feature of alkaptonuria. The 24-urine analysis of homogentisic acid was 85 mg/dL (normal value, 20–30 m
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