• Journal of Chest Surgery
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• v.30 no.2
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• pp.137-145
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• 1997

From July 1983 to December 1993, total 112 consecutive mitral valve replacements in 107 patients were performed in patient with mitral valvular abnormalities. To estimate the risk factor related to operative death, all patient's perioperative data were reviewed retrospectively. Except 20 patients received concomitant aortic valve replacement and 2 patients had incomplete data, 85 patients were included in this study. Mean age were $37.3\pm$ 13.1 years ranging from 13 to 72 years. Thirty-seven patients were male and fourty-eight patients were female. Mean follow-up durations were $51.1\pm33.8$ months ranging from 6 months t 11 years. Patients in this study showed improvement in mean NYHA functional clssification, from $3.02\pm0.73$ to 1 $78\pm0.55,$ and also in cardiothoracic ratio, from 0.61 $\pm0.09$ to $0.58\pm0.08$ at 6 months follow-up after operation. Operative complications were detected in 23 patients(27.1 %) and common postoperative complications were rhythm disturbance in 7 cases, pulmonary complications in 6 cases and low cardiac output syndrome in 6 cases. Early mortality was 10.6%(n=9) and the most common cause of death was a congestive heart failure due to low cardiac output syndrome. Main cause of our higher operative mortality than other study was that operative mortality in the initial period of our mitral surgery was high(5 operative deaths among 19 mitral valve replacement from July 1983 to December 1985). Actuarial survival was 80.8% at 5 years, 71.8% at 11 years including operative deaths. Actuarial freedom from anticoagulant-related bleeding was 85.3% at 5 years, 78.3% at 11 years. 95.1% at 5 years and 88.8% at 11 years among the patient in this study were free from thromboembolism, and 97.5% at 5 years and 75.1% at 11 years were free from reoperation. Preoperative cardiothoracic ratio and patient's age were statistically significant operative risk factors.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.3
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• pp.99-106
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• 2018

Mucolipidosis type III (pseudo-Hurler polydystrophy) is a mucolipids degrading disorder caused by a mutation in the GNPTAB gene and is inherited by autosomal recessive. It is diagnosed by examining highly concentrated mucolipids in blood and the diagnosis can be confirmed by genetic testing. Mucolipidosis type III is a rare and progressive metabolic disorder. Its initial signs and symptoms usually occur around 3 years of age. Clinical manifestations of the disease include slow growth, joint stiffness, arthralgia, skeletal abnormalities, heart valve abnormalities, recurrent respiratory infection, distinctive facial features, and mild intellectual disability. Here, we are presenting two siblings of mucolipidosis type III, a 4-year-old female and a 2 years and 7 months old male with features of delayed growth and coarse face. The diagnosis was confirmed by [c.2715+1G>A(p.Glu906Leufs*4), c.2544del(p.Glu849Lysfs*22)] mutation in targeted gene panel sequencing. In this case, c.2544del is a heterozygote newly identified mutation in mucolipidosis type III and was not found in the control group including the genome aggregation database. And it is interpreted as a pathogenic variant considering the association with phenotype. Here, we report a Korean mucolipidosis type III patients with novel mutations in GNPTAB gene who have been treated since early childhood. Owing to recent development of molecular genetic techniques, it was possible to make early diagnosis and treatment with pamidronate was initiated appropriately in case 1. In addition to these supportive therapies, efforts must be made to develop fundamental treatment for patients with early diagnosis of mucolipidosis.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.1
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• pp.24-33
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• 2016

Mucopolysaccharidosis type VI (MPS VI) is a rare disease caused by the mutation of ARSB with prevalence range from 1/5,000 in northeast Brazil to 1/2,057,529 births in Czech Republic. In Asia, there is only one published figure in Taiwan of about 1/833,000 births. The exact prevalence in the Korean population is unknown, but we estimated the incidence of MPS VI is about 0.03/100,000 live births. Enzyme replacement therapy (ERT) with recombinant human Arylsulfatase B (rhASB) is a modality for the treatment of MPS VI that reduces the excretion of urine glycosaminoglycan (GAG) and improves joint motion, pulmonary function, and endurance. We presented the clinical features, molecular analysis and outcome of ERT in three Korean MPS VI patients. All patients had the typical characteristic clinical features of MPS IV. Short stature, dysostosis multiplex, corneal opacity and valvular heart disease were found at first presentation, while restrictive lung disease and carpal tunnel syndrome developed later in all patients. Molecular analysis demonstrated novel missense and nonsense mutation in the patients, including p.Ile 67Ser, p.Gly328Arg, $p.Arg191^*$, p.Asp352Asn, and p.Gly17Asp. After ERT, urine GAG was decreased in all patients. Skeletal involvement, corneal opacity, heart valve abnormalities and pulmonary function were not improved with ERT, but it had a better outcome on regarding joint motion and endurance. One patient underwent allogeneic bone marrow transplantation (BMT) prior to ERT, but their clinical response was not improved much after BMT. This study demonstrates clinical phenotypes and molecular analysis of the severe form of MPS VI in Korean patients.