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Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA.

ABSTRACT: BACKGROUND: Mucopolysaccharidosis IVA (MPS IVA) is a rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase deficiency, which catalyzes a step in the catabolism of glycosaminoglycans, keratan sulfate and chondroitin-6-sulfate. This disease has a variable age of onset and rate of progression. METHODS: A retrospective analysis of medical records of 24 patients with MPS IVA (11 males, 13 females; current mean age ± SD, 12.6 ± 6.6 years; age range, 1.4-29.4 years) seen at 6 medical centers in Taiwan from January 1996 through June 2013 was performed. RESULTS: Mean ages of onset of symptoms and confirmed diagnosis were 2.0 ± 1.6 and 5.7 ± 4.5 years, respectively. The most prevalent clinical manifestations were kyphosis (100%), pectus carinatum (96%), abnormal gait (93%), striking short trunk dwarfism (92%), genu valgum (92%), and valvular heart disease (91%). Eight patients (33%) experienced at least one surgical procedure with the most common being ear tube insertion (25%), adenoidectomy (17%), tonsillectomy (13%), supraglottoplasty (13%), spinal decompression (13%), and spinal fusion (13%). The most prevalent cardiac valve abnormalities were aortic stenosis (45%) and mitral regurgitation (45%). At the time of the study, 8 out of 24 patients (33%) have died at the mean age of 17.2 ± 7.7 years. CONCLUSIONS: An understanding of the natural history involved in MPS IVA may allow early diagnosis of the disease. All affected Taiwanese patients experienced significant functional limitations. Adequate evaluations and timely management may improve clinical outcomes and quality of life.

SUBMITTER: Lin HY

PROVIDER: S-EPMC3925123 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA.

Lin Hsiang-Yu HY Chuang Chih-Kuang CK Chen Ming-Ren MR Chiu Pao Chin PC Ke Yu-Yuan YY Niu Dau-Ming DM Tsai Fuu-Jen FJ Hwu Wuh-Liang WL Lin Ju-Li JL Lin Shuan-Pei SP

Orphanet journal of rare diseases 20140210

<h4>Background</h4>Mucopolysaccharidosis IVA (MPS IVA) is a rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase deficiency, which catalyzes a step in the catabolism of glycosaminoglycans, keratan sulfate and chondroitin-6-sulfate. This disease has a variable age of onset and rate of progression.<h4>Methods</h4>A retrospective analysis of medical records of 24 patients with MPS IVA (11 males, 13 females; current mean age ± SD, 12.6 ± 6.6 years; age range, 1.4-29.4 years) s ...[more]

PMID: 24513086

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Project description:BACKGROUND:Cardiac abnormalities have been observed in patients with mucopolysaccharidosis (MPS) of any type, with the most documented abnormalities being valvular heart disease and cardiac hypertrophy. However, few studies have focused on the cardiac features of MPS IVA. METHODS:We reviewed the medical records, echocardiograms, and electrocardiograms of 32 Taiwanese patients with MPS IVA (16 males and 16 females; median age, 10.8 years; age range, 1.1 to 29.1 years) as well as the echocardiographic data of six patients who received enzyme replacement therapy (ERT) for 3-6 years. RESULTS:Echocardiographic examinations (n?=?32) revealed mean z scores of left ventricular mass index (LVMI), interventricular septum diameter in diastole (IVSd), left ventricular posterior wall diameter in diastole (LVPWd), and aortic diameter of 0.94, 2.70, 0.39, and 3.26, respectively. Z scores >?2 were identified in 25%, 50%, 29%, and 69% of the LVMI, IVSd, LVPWd, and aortic diameter values, respectively. Diastolic dysfunction [reversed ratio between early and late (atrial) ventricular filling velocity (E/A ratio?<?1)] was identified in four patients (13%), however, the ejection fraction was normal (50-75%) in all of the patients. Sixteen patients (50%) had valvular heart disease and most were of mild degree. Fourteen (44%) had valvular stenosis, and 10 (31%) had regurgitation. The z scores of LVMI, IVSd, LVPWd, and aortic diameter, the severity scores of aortic stenosis and regurgitation, and the existence of a thickened interventricular septum were all positively correlated with increasing age (p?<?0.05). For the 14 patients with valve thickening, the z scores of LVMI, IVSd and aortic diameter were all larger than those of the 18 patients without valve thickening (p?<?0.05). For two patients who started ERT at a younger age (1.4 and 2.8 years, respectively), the z scores for LVMI, IVSd, and LVPWd all decreased after ERT. CONCLUSIONS:A large proportion of the patients with MPS IVA had valvular heart disease and cardiac hypertrophy. Cardiac abnormalities worsened with increasing age in accordance with the progressive nature of this disease. ERT appeared to be effective in stabilizing or reducing cardiac hypertrophy, and better results may have been associated with starting ERT at a younger age.

Project description: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.

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Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA.

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Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA.

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