Early structural valve deterioration following transcatheter aortic valve implantation in a patient with Scheie syndrome: a case report.

Yusuke Yanagino, Satoshi Kainuma, Koichi Toda, Ai Kawamura, Takuji Kawamura, Daisuke Yoshioka, Masaki Taira, Kazuo Shimamura, Shigeru Miyagawa
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Abstract

Background: Scheie syndrome, an attenuated subtype of mucopolysaccharidosis type I, is a rare storage disease that causes progressive glycosaminoglycans (GAGs) accumulation. Cardiovascular disorders determine the prognosis, and cardiac valve abnormalities are the most common cause. The patients are usually young so mechanical valve replacement is often performed, but because of the features of this disease, the surgical treatment is very risky. Recently, transcatheter aortic valve implantation (TAVI) has been reported as an alternative choice for aortic stenosis, but optimal choice is still unclear. Here, we introduce a patient that underwent TAVI and refer to the histological finding of a biological valve extracted in relation to GAGs accumulation.

Case presentation: A 54-year-old woman with Scheie syndrome underwent valve surgeries three times throughout her whole life. At age 41, she received a mitral valve replacement with a mechanical valve for mitral stenosis. She promptly developed severe diastolic dysfunction and low output syndrome after the release of aortic clamping, thus requiring temporary mechanical circulatory support4. At age 51, she suffered from heart failure due to severe aortic stenosis and underwent TAVI because conventional aortic valve replacement (AVR) was deemed too risky. Three years later, her heart failure relapsed, and an echocardiogram unexpectedly revealed thickened bioprosthetic valve leaflets and a significant pressure gradient across the valve, consistent with early structural valve deterioration. AVR was performed via median sternotomy with a mechanical valve. As with the first operation, she presented refractory heart failure requiring mechanical circulatory support and was meticulously managed. However, she steadily showed worsening of multiple organ systems and died 9 days after the operation. Pathological autopsy and histological examination revealed accumulation of tissue with GAGs on the leaflets of the bioprosthetic valve of TAVI, which may have been the cause of early structural valve deterioration.

Conclusion: For patients with Scheie syndrome, a biological valve can be compromised by the accumulation of GAGs, thereby causing early SVD. These findings may support valve selection for these high-risk patients.

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一名 Scheie 综合征患者经导管主动脉瓣植入术后瓣膜结构早期恶化:病例报告。
背景:谢伊综合征是粘多糖病I型的一种减弱亚型,是一种罕见的储积性疾病,会导致进行性糖胺聚糖(GAGs)积聚。心血管疾病决定了预后,而心脏瓣膜异常是最常见的病因。患者通常比较年轻,因此通常会进行机械瓣膜置换术,但由于这种疾病的特点,手术治疗风险很大。最近,有报道称经导管主动脉瓣植入术(TAVI)是治疗主动脉瓣狭窄的另一种选择,但最佳选择仍不明确。在此,我们将介绍一名接受了 TAVI 的患者,并参考提取的生物瓣膜与 GAGs 累积有关的组织学发现:一名 54 岁的 Scheie 综合征女性患者一生中接受过三次瓣膜手术。41 岁时,她因二尖瓣狭窄接受了机械瓣膜置换术。解除主动脉夹闭后,她立即出现了严重的舒张功能障碍和低输出量综合征,因此需要临时的机械循环支持4。51 岁时,她因严重的主动脉瓣狭窄而出现心力衰竭,由于传统的主动脉瓣置换术(AVR)风险太大,她接受了 TAVI 手术。三年后,她的心衰复发,超声心动图意外发现生物人工瓣叶增厚,瓣膜上出现明显的压力梯度,这与早期瓣膜结构退化一致。经胸骨正中切口,使用机械瓣膜进行了人工瓣膜置换术。与第一次手术一样,她出现了难治性心衰,需要机械循环支持,并得到了精心治疗。然而,她的多个器官系统逐渐恶化,术后9天死亡。病理解剖和组织学检查显示,TAVI生物人工瓣膜的瓣叶上有GAGs组织堆积,这可能是瓣膜结构早期恶化的原因:结论:对于 Scheie 综合征患者,生物瓣膜可能会因 GAGs 的堆积而受损,从而导致早期 SVD。这些发现可能有助于为这些高危患者选择瓣膜。
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