Department of Pathology and Laboratory Medicine, Royal Inland Hospital, University of British Columbia, Kamloops, BC, Canada.
Department of Laboratory Medicine & Pathology, University of Alberta, Edmonton, AB, Canada.
Cardiovasc Pathol. 2022 Sep-Oct;60:107430. doi: 10.1016/j.carpath.2022.107430. Epub 2022 May 7.
To report two unusual presentations of mucopolysaccharidosis type III (Sanfilippo syndrome) and provide evidence for the cardiac involvement.
We report two siblings with cardiac involvement that were diagnosed in childhood with Sanfilippo A Syndrome (SAS). All patients' diagnosis was confirmed by the excess of heparan sulfate in the urine and the reduction of heparan sulfamidase protein activity. The heart specimens were studied.
We report two sibling patients (15-years-old female and 12-years-old female) occurring in sisters both with onset in childhood with no neurological, ophthalmic, hepatic symptoms or coarsening of features as classically described. Both patients underwent bilateral hip arthroplasty in their early 30`s. The older sister had an orthotopic heart transplant because of end-stage heart failure of her cardiomyopathy at the age of 45. She is alive and well. The youngest sister died due to heart failure before a transplantation took place. In the two siblings a thin right ventricular free wall was seen, which triggered the differential diagnosis with arrhythmogenic right ventricular cardiomyopathy or lamin A/C cardiomyopathy.
Early recognition of solitary or mainly cardiac involvement is essential for patients with mucopolysaccharidosis type III (SAS).
报告 2 例黏多糖贮积症 III 型（Sanfilippo 综合征）的罕见表现，并提供心脏受累的证据。
我们报告了 2 例具有心脏受累的同胞，他们在儿童时期被诊断为 Sanfilippo A 综合征（SAS）。所有患者的诊断均通过尿液中肝素硫酸盐过量和肝素硫酸酯酶蛋白活性降低得到证实。研究了心脏标本。
我们报告了 2 例同胞患者（15 岁女性和 12 岁女性），均为姐妹，均在儿童时期发病，无神经、眼科、肝脏症状或特征性变粗，如经典描述。两名患者均在 30 多岁时接受了双侧髋关节置换术。由于心肌病引起的心力衰竭，年长的姐姐在 45 岁时接受了原位心脏移植。她现在仍然活着且情况良好。妹妹因心力衰竭在移植前死亡。在这 2 例患者中，均可见右心室游离壁变薄，这引发了心律失常性右心室心肌病或 lamin A/C 心肌病的鉴别诊断。
对于黏多糖贮积症 III 型（SAS）患者，早期识别单纯或主要心脏受累至关重要。
