Background

Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disease caused by a deficiency of the lysosomal enzyme α-L-iduronidase. Cardiac manifestations such as valvular heart disease are associated with poor prognosis. There have been only a few reports on the effect of long-term enzyme replacement therapy (ERT) for adult patients with the attenuated form of MPS I (Scheie syndrome) and cardiac involvement.

Methods

We retrospectively reviewed four adult patients of Scheie syndrome for which ERT was performed in our hospital. We investigated the findings of electrocardiography and echocardiography for the four patients performed before and 10 years after the initiation of ERT to evaluate the efficacy for ERT in Scheie syndrome.

Results

The ages of the patients at the initiation of ERT ranged from 26 to 46 years. The mean follow-up period was 129 months (121 to 134 months). Two patients underwent valve replacement surgery before the initiation of ERT. One patient had gradual progressive aortic valve stenosis and mitral valve stenosis during the course of ERT, and double valve replacement was finally performed. The patient who had started ERT at the youngest age did not develop significant cardiovascular disease. Regarding clinical courses with ERT for a period of 10 years, all four patients survived and they showed relatively stable cardiac conditions although two patients developed sick sinus syndrome after the valvular surgery.

Conclusions

Valvular disease in patients with Scheie syndrome occur at a young age. In a limited number of the four patients, ERT might contribute the stability of cardiac condition.

中文翻译：

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I型黏多糖贮积症减毒型成人10年以上酶替代疗法的心脏表现和效果

背景

I型粘多糖贮积症（MPS I）是一种罕见的常染色体隐性遗传病，由溶酶体酶α-L-艾杜糖醛酸酶缺乏引起。心脏瓣膜病等心脏表现与预后不良有关。只有少数关于长期酶替代疗法 (ERT) 对 MPS I（Scheie 综合征）和心脏受累的成人患者的影响的报道。

方法

我们回顾性地回顾了在我们医院进行 ERT 的四名 Scheie 综合征成年患者。我们调查了四名患者在 ERT 开始前和 10 年后进行的心电图和超声心动图检查结果，以评估 ERT 在 Scheie 综合征中的疗效。

结果

开始 ERT 时患者的年龄范围为 26 至 46 岁。平均随访时间为 129 个月（121 至 134 个月）。两名患者在 ERT 开始前接受了瓣膜置换手术。1例患者在ERT过程中出现渐进性主动脉瓣狭窄和二尖瓣狭窄，最终行双瓣置换术。在最年轻时开始 ERT 的患者没有出现明显的心血管疾病。在为期 10 年的 ERT 临床过程中，所有 4 名患者都存活下来，并且他们的心脏状况相对稳定，尽管有 2 名患者在瓣膜手术后出现病态窦房结综合征。

结论

Scheie 综合征患者的瓣膜疾病发生在年轻时。在有限的四名患者中，ERT 可能有助于心脏状况的稳定性。