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限制型心肌病：戈谢病的一种罕见表现。

Restrictive cardiomyopathy: A rare presentation of gaucher disease.

机构信息

Department of Pediatrics, R. G. Kar Medical College, Kolkata, West Bengal, India.

Department of Cardiology, R. G. Kar Medical College, Kolkata, West Bengal, India.

出版信息

Ann Afr Med. 2021 Apr-Jun;20(2):138-140. doi: 10.4103/aam.aam_64_18.

DOI:10.4103/aam.aam_64_18
PMID:34213482
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8378461/
Abstract

Restrictive cardiomyopathy is an unusual form of cardiomyopathy accounting only for 2%-5% of all pediatric cardiomyopathies. It is mostly idiopathic. Gaucher disease in association with restrictive cardiomyopathy is extremely rare. We herein report a case of cardiac failure in an 8-year-old male child caused by restrictive cardiomyopathy. Pathogenesis of which was attributed to Gaucher disease. In any case of restrictive cardiomyopathy, Gaucher disease should be included in differential diagnosis and investigated accordingly.

摘要

限制型心肌病是一种罕见的心肌病，仅占所有儿科心肌病的 2%-5%。它主要是特发性的。戈谢病合并限制型心肌病极其罕见。本文报告了一例 8 岁男性儿童因限制型心肌病引起的心力衰竭。其发病机制归因于戈谢病。在任何限制型心肌病的情况下，都应将戈谢病纳入鉴别诊断并进行相应的检查。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9406/8378461/adbe5f832d86/AAM-20-138-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9406/8378461/1e521725c65b/AAM-20-138-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9406/8378461/adbe5f832d86/AAM-20-138-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9406/8378461/1e521725c65b/AAM-20-138-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9406/8378461/adbe5f832d86/AAM-20-138-g002.jpg

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Restrictive cardiomyopathy: A rare presentation of gaucher disease.限制型心肌病：戈谢病的一种罕见表现。
Ann Afr Med. 2021 Apr-Jun;20(2):138-140. doi: 10.4103/aam.aam_64_18.
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Two Case Reports of Progressive Pulmonary Hypertension with Type-1 Gaucher Disease: Efficient PAH-Specific Therapy and 1-Year Follow-Up.1型戈谢病伴进行性肺动脉高压的两例病例报告：有效的肺动脉高压特异性治疗及1年随访
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本文引用的文献

1
Combination therapy in a patient with chronic neuronopathic Gaucher disease: a case report.慢性神经病变型戈谢病患者的联合治疗：一例报告
J Med Case Rep. 2017 Jan 20;11(1):19. doi: 10.1186/s13256-016-1147-5.
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Therapeutic approaches for lysosomal storage diseases.溶酶体贮积症的治疗方法。
Ther Adv Endocrinol Metab. 2010 Aug;1(4):177-88. doi: 10.1177/2042018810384429.
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Diagnostic Approaches to Pediatric Cardiomyopathy of Metabolic Genetic Etiologies and Their Relation to Therapy.代谢性遗传病因所致小儿心肌病的诊断方法及其与治疗的关系
Prog Pediatr Cardiol. 2007;24(1):15-25. doi: 10.1016/j.ppedcard.2007.08.013.
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The incidence of pediatric cardiomyopathy in two regions of the United States.美国两个地区小儿心肌病的发病率。
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The epidemiology of childhood cardiomyopathy in Australia.澳大利亚儿童心肌病的流行病学
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Cardiac transplantation for pediatric restrictive cardiomyopathy: presentation, evaluation, and short-term outcome.小儿限制性心肌病的心脏移植：临床表现、评估及短期预后
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Hydrocephalus, corneal opacities, deafness, left ventricle hypertrophy, clinodactyly in an adolescent patient. A new syndrome associated with glucocerebrosidase deficiency.一名青少年患者出现脑积水、角膜混浊、耳聋、左心室肥大、手指弯曲。一种与葡萄糖脑苷脂酶缺乏相关的新综合征。
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Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.戈谢病的罕见表现：三名D409H突变纯合子同胞出现心血管钙化。
J Med Genet. 1995 Sep;32(9):740-2. doi: 10.1136/jmg.32.9.740.
9
Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype.以心脏瓣膜进行性钙化和独特基因型为特征的戈谢病变异型。
Lancet. 1995 Oct 14;346(8981):1000-3. doi: 10.1016/s0140-6736(95)91688-1.
10
Gaucher's disease with mitral and aortic involvement: echocardiographic findings.伴有二尖瓣和主动脉受累的戈谢病：超声心动图检查结果
Pediatr Cardiol. 1992 Jan;13(1):56-8. doi: 10.1007/BF00788233.