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Orphanet J Rare Dis. 2019 Jun 13;14(1):140. doi: 10.1186/s13023-019-1112-7.

Cardiac characteristics and natural progression in Taiwanese patients with mucopolysaccharidosis III.

Lin HY1,2,3,4,5,6, Chen MR1,2,4, Lin SM1,2,4, Hung CL1,7, Niu DM8, Chang TM9,10, Chuang CK11,12, Lin SP13,14,15,16.

Author information

1
Department of Medicine, Mackay Medical College, New Taipei City, Taiwan.
2
Department of Pediatrics, Mackay Memorial Hospital, No.92, Sec. 2, Chung-Shan North Road, Taipei, 10449, Taiwan.
3
Department of Medical Research, Mackay Memorial Hospital, 92 Chung-Shan N. Rd., Sec. 2, Taipei, 10449, Taiwan.
4
Mackay Junior College of Medicine, Nursing and Management, Taipei, Taiwan.
5
Department of Medical Research, China Medical University Hospital, China Medical University, Taichung, Taiwan.
6
Institute of Biomedical Sciences, Mackay Medical College, New Taipei City, Taiwan.
7
Division of Cardiology, Department of Internal Medicine, Mackay Memorial Hospital, Taipei, Taiwan.
8
Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
9
Department of Pediatric Neurology, Changhua Christian Children's Hospital, Changhua, Taiwan.
10
Department of Biological Science and Technology, College of Biological Science and Technology, National Chiao Tung University, Hsinchu, Taiwan.
11
Department of Medical Research, Mackay Memorial Hospital, 92 Chung-Shan N. Rd., Sec. 2, Taipei, 10449, Taiwan. mmhcck@gmail.com.
12
College of Medicine, Fu-Jen Catholic University, Taipei, Taiwan. mmhcck@gmail.com.
13
Department of Medicine, Mackay Medical College, New Taipei City, Taiwan. linhy@mmh.org.tw.
14
Department of Pediatrics, Mackay Memorial Hospital, No.92, Sec. 2, Chung-Shan North Road, Taipei, 10449, Taiwan. linhy@mmh.org.tw.
15
Department of Medical Research, Mackay Memorial Hospital, 92 Chung-Shan N. Rd., Sec. 2, Taipei, 10449, Taiwan. linhy@mmh.org.tw.
16
Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan. linhy@mmh.org.tw.

Abstract

BACKGROUND:

Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is caused by a deficiency in one of the four enzymes involved in the lysosomal degradation of heparan sulfate. Cardiac abnormalities have been observed in patients with all types of MPS except MPS IX, however few studies have focused on cardiac alterations in patients with MPS III.

METHODS:

We reviewed medical records, echocardiograms, and electrocardiograms of 26 Taiwanese patients with MPS III (five with IIIA, 20 with IIIB, and one with IIIC; 14 males and 12 females; median age, 7.4 years; age range, 1.8-26.5 years). The relationships between age and each echocardiographic parameter were analyzed.

RESULTS:

Echocardiographic examinations (n = 26) revealed that 10 patients (38%) had valvular heart disease. Four (15%) and eight (31%) patients had valvular stenosis or regurgitation, respectively. The most prevalent cardiac valve abnormality was mitral regurgitation (31%), followed by aortic regurgitation (19%). However, most of the cases of valvular heart disease were mild. Three (12%), five (19%) and five (19%) patients had mitral valve prolapse, a thickened interventricular septum, and asymmetric septal hypertrophy, respectively. The severity of aortic regurgitation and the existence of valvular heart disease, aortic valve abnormalities and valvular stenosis were all positively correlated with increasing age (p < 0.05). Z scores > 2 were identified in 0, 38, 8, and 27% of left ventricular mass index, interventricular septal end-diastolic dimension, left ventricular posterior wall end-diastolic dimension, and aortic diameter, respectively. Electrocardiograms in 11 patients revealed the presence of sinus arrhythmia (n = 3), sinus bradycardia (n = 2), and sinus tachycardia (n = 1). Six patients with MPS IIIB had follow-up echocardiographic data at 1.9-18.1 years to compare with the baseline data, which showed some patients had increased thickness of the interventricular septum, as well as more patients had valvular abnormalities at follow-up.

CONCLUSIONS:

Cardiac involvement in MPS III is less common and milder compared with other types of MPS. The existence of valvular heart disease, aortic valve abnormalities and valvular stenosis in the patients worsened with increasing age, reinforcing the concept of the progressive nature of this disease.

KEYWORDS:

Cardiac; Echocardiography; Electrocardiography; Mucopolysaccharidosis III; Valvular heart disease

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