Kitov Spas, Kitova Maria-Florance, Goranov George, Kraev Krasimir, Kraeva Maria, Kitova Lyudmila
First Department of Internal Diseases, Section of Cardiology, Medical Faculty, Medical University of Plovdiv, 3000 Plovdiv, Bulgaria.
Clinic of Cardiology, St. George University Hospital, 4000 Plovdiv, Bulgaria.
Life (Basel). 2025 May 2;15(5):737. doi: 10.3390/life15050737.
Alkaptonuria is an autosomal-recessive disorder affecting the metabolism of tyrosine and phenylalanine which results in accumulation of homogentisic acid in connective tissues. The joints are most commonly affected, while the most common cardiac damage is aortic valve stenosis. The treatment focuses on reducing the symptoms. Aortic stenosis in alkaptonuria is treated with surgical aortic valve replacement; however, transcatheter aortic valve implantation procedures are increasing in number with excellent outcomes.
We report a case of a 67-year-old female with chronic back pain and large-joint arthralgia, who was recently diagnosed with alkaptonuria. She reported a long-known heart murmur and intermittent dark-brown staining of her underwear since childhood. Bilateral dark-brown pigmentation of the sclera and both ear cartilages were visualised. ECG confirmed atrial fibrillation and left ventricular hypertrophy. Cardiac ultrasonography showed severe aortic stenosis, reduced global longitudinal strain and preserved ejection fraction. According to the latest recommendations, the choice between surgical and transcatheter intervention must be based upon careful evaluation of clinical, anatomical and procedural factors by the Heart Team, weighing the risks and benefits of each approach for an individual patient. The advantages and disadvantages of both procedures were explained to the patient. It was emphasised that the genetic disease present has no etiopathogenetic definitive treatment and the pigment may continue to deposit on the biological valve (in transcatheter aortic valve implantation) and less likely on the mechanical valve prosthesis (in Surgical Aortic Valve Replacement), highlighting the fact that in the literature worldwide, there are only single reports of ochronosis and severe aortic stenosis. At this stage of knowledge, it is difficult to give the patient clear guarantees when choosing a methodology for performing a valve correction. Along with the standard therapy the patient underwent transcatheter aortic valve implantation with Boston Scientific prosthesis with a very good post-procedural outcome.
There is scarce information on transcatheter aortic valve implantation success rate in patients with alkaptonuria. In the population, transcatheter aortic valve implantation outcome is generally good; however, the individual success in alkaptonuria patients depends on the severity of their heart valve damage and overall health.
黑尿症是一种常染色体隐性疾病，会影响酪氨酸和苯丙氨酸的代谢，导致尿黑酸在结缔组织中蓄积。关节最常受到影响，而最常见的心脏损害是主动脉瓣狭窄。治疗重点在于减轻症状。黑尿症导致的主动脉狭窄通过外科主动脉瓣置换术进行治疗；然而，经导管主动脉瓣植入手术的数量正在增加，且效果良好。
我们报告一例67岁女性患者，有慢性背痛和大关节疼痛，最近被诊断为黑尿症。她自述自幼就有心脏杂音，内衣有间歇性深褐色污渍。可见双侧巩膜和双耳软骨呈深褐色色素沉着。心电图证实为心房颤动和左心室肥厚。心脏超声检查显示严重主动脉狭窄、整体纵向应变降低但射血分数正常。根据最新建议，手术和经导管干预之间的选择必须由心脏团队仔细评估临床、解剖和手术因素，权衡每种方法对个体患者的风险和益处。向患者解释了两种手术的优缺点。强调现有的遗传疾病尚无明确的病因治疗方法，色素可能会继续沉积在生物瓣膜上（经导管主动脉瓣植入术），而较少沉积在机械瓣膜假体上（外科主动脉瓣置换术），突出了全球文献中仅有黑尿症和严重主动脉狭窄的单一报告这一事实。在目前的认知阶段，为患者选择瓣膜矫正方法时很难给出明确保证。除标准治疗外，该患者接受了使用波士顿科学公司假体的经导管主动脉瓣植入术，术后效果非常好。
关于黑尿症患者经导管主动脉瓣植入成功率的信息很少。总体而言，经导管主动脉瓣植入术的效果通常良好；然而，黑尿症患者个体的手术成功与否取决于其心脏瓣膜损害的严重程度和整体健康状况。
