Patients with Mucopolysaccharidosis (MPS) have an increased risk of cardiovascular complications, conduction tissue abnormalities and arrhythmia; all rare but underestimated. It has been reported that conduction system defects are progressive in this group of patients and may result in sudden cardiac death. The aim of this study is to review our current practice and suggest best practice guidelines regarding the frequency of cardiac rhythm monitoring in this patient group. Seventy-seven adult MPS patients who attended metabolic clinics between 2013 and 2019 were included in this retrospective observational study. Patients were affected with different MPS types: MPS I (n = 33), MPS II (n = 16), MPS IV (n = 19), VI (n = 8) and VII (n = 1). The assessments included: 12‑lead electrocardiogram (ECG), 24-h ECG (Holter monitor), loop recorder/pacemaker interrogation assessment. Data from 12‑lead ECG (available from 69 patients) showed a variety of abnormalities: T wave inversion in a single lead III (n = 19), left ventricular hypertrophy (n = 14), early repolarization (n = 14), right axis deviation (RAD, n = 11), partial RBBB (n = 9), right bundle branch block (RBBB) (n = 1) and first degree AV block (n = 1). ECG changes of bundle branch block, RAD (left posterior fascicular block) could represent conduction tissue abnormality and equally could be related to the underlying lung tissue abnormality which is present in most of the patients with MPS. T wave abnormality in a single lead is usually insignificant in healthy individuals; however in MPS patients it could be as a result of chest shape. Among the 34 patients for who 24-hour ECG was available, sinus tachycardia was the most common rhythm noted (n = 9), followed by sinus bradycardia (n = 4), atrial fibrillation (AF) (n = 1) and atrio-ventricular nodal re-entry tachycardia (AVNRT) (n = 1). Permanent pacemaker was inserted in two patients. AF was observed in one patient with MPS II. In conclusion, we postulate that regular cardiac monitoring is required to warrant early detection of underlying conduction tissue abnormalities. In addition, 12‑lead ECG is the first line investigation that, if abnormal, should be followed up by 24-hour Holter monitoring. These findings warrant further research studies.

中文翻译：

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心脏节律异常-成年黏多糖多糖酶患者的心血管风险被低估了。

粘多糖贮积症（MPS）患者发生心血管并发症，传导组织异常和心律不齐的风险增加；很少见，但被低估了。据报道，该组患者的传导系统缺陷是进行性的，可能导致心脏性猝死。这项研究的目的是回顾我们目前的做法，并就该患者组的心律监测频率提出最佳做法指南。这项回顾性观察研究纳入了2013年至2019年之间在代谢诊所就诊的77名成人MPS患者。患者受到不同MPS类型的影响：MPS I（n = 33），MPS II（n = 16），MPS IV（n = 19），VI（n = 8）和VII（n = 1）。评估包括：12导联心电图（ECG），24小时ECG（心电监测器），循环记录器/起搏器询问评估。来自12导联心电图（可从69位患者中获得）的数据显示出多种异常：单根导联III中的T波倒置（n = 19），左心室肥大（n = 14），早期复极（n = 14），右轴偏差（RAD，n = 11），部分RBBB（n = 9），右束支传导阻滞（RBBB）（n = 1）和一度AV阻滞（n = 1）。束支传导阻滞RAD（左后束状传导阻滞）的ECG变化可能代表传导组织异常，并且同大多数MPS患者中存在的潜在肺组织异常有关。在健康个体中，单根导线中的T波异常通常不明显。但是在MPS患者中，可能是由于胸部形状。在34位24小时心电图可用的患者中，窦性心动过速是最常见的节律（n = 9），其次是窦性心动过缓（n = 4），房颤（AF）（n = 1）和房室结再入性心动过速（AVNRT）（n = 1 ）。永久性起搏器被插入两名患者中。在一名MPS II患者中观察到AF。总之，我们假设需要定期进行心脏监护以确保及早发现潜在的传导组织异常。此外，12导联心电图是一线检查，如果出现异常，应进行24小时动态心电图监测。这些发现值得进一步研究。在一名MPS II患者中观察到AF。总之，我们假设需要定期进行心脏监护以确保及早发现潜在的传导组织异常。此外，一线心电图检查是一线检查，如果异常，应进行24小时动态心电图监测。这些发现值得进一步研究。在一名MPS II患者中观察到AF。总之，我们假设需要定期进行心脏监护以确保及早发现潜在的传导组织异常。此外，一线心电图检查是一线检查，如果异常，应进行24小时动态心电图监测。这些发现值得进一步研究。