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表现为肥厚型心肌病和三尖瓣反流的法布里病

Fabry Disease Presenting with Hypertrophic Cardiomyopathy and Tricuspid Regurgitation.

作者信息

Cho Sang-Cheol, Yoo Han-Wook, Lee Jae Won, Jang Jeong Yoon, Heo Ran, Song Jong-Min

机构信息

Department of Cardiology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

Department of Pediatrics, Medical Genetics Clinic and Laboratory, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

出版信息

J Cardiovasc Ultrasound. 2016 Dec;24(4):324-328. doi: 10.4250/jcu.2016.24.4.324. Epub 2016 Dec 28.

DOI:10.4250/jcu.2016.24.4.324
PMID:28090261
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5234333/
Abstract

A 71-year-old female who was diagnosed with nonobstructive hypertrophic cardiomyopathy since 1999 presented with dyspnea and severe edema on both legs. For the management of her symptom, cardiac surgery including tricuspid annuloplasty, Maze operation and right atrial reduction plasty was performed. During follow-up after cardiac surgery, a plasma α-galactosidase activity was checked for the screening of Fabry disease and the result was around lower normal limit. DNA analysis was implemented for confirmation and it revealed a heterozygote α-galactosidase mutation at exon 6 [c.901C>T (p.Arg301Ter)]. This case suggests that Fabry disease might be easily undetected, and clinical suspicion is critical.

摘要

一名自1999年起被诊断为非梗阻性肥厚型心肌病的71岁女性，出现呼吸困难和双下肢严重水肿。为了治疗她的症状，进行了包括三尖瓣环成形术、迷宫手术和右心房缩小整形术在内的心脏手术。在心脏手术后的随访期间，检查了血浆α-半乳糖苷酶活性以筛查法布里病，结果接近正常下限。进行了DNA分析以进行确认，结果显示外显子6处存在杂合子α-半乳糖苷酶突变[c.901C>T (p.Arg301Ter)]。该病例表明法布里病可能很容易被漏诊，临床怀疑至关重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37f1/5234333/9fd11bda93a2/jcu-24-324-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37f1/5234333/85ee5f524acc/jcu-24-324-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37f1/5234333/2a3bbf4c5ed1/jcu-24-324-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37f1/5234333/2608b8618d74/jcu-24-324-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37f1/5234333/d3005edae603/jcu-24-324-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37f1/5234333/0707619cfe10/jcu-24-324-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37f1/5234333/9fc0a4d6f4fb/jcu-24-324-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37f1/5234333/9fd11bda93a2/jcu-24-324-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37f1/5234333/85ee5f524acc/jcu-24-324-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37f1/5234333/2a3bbf4c5ed1/jcu-24-324-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37f1/5234333/2608b8618d74/jcu-24-324-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37f1/5234333/d3005edae603/jcu-24-324-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37f1/5234333/0707619cfe10/jcu-24-324-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37f1/5234333/9fc0a4d6f4fb/jcu-24-324-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/37f1/5234333/9fd11bda93a2/jcu-24-324-g007.jpg

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本文引用的文献

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Clinical usefulness of tissue Doppler imaging in predicting preclinical Fabry cardiomyopathy.组织多普勒成像在预测临床前法布瑞心肌病中的临床应用价值。
Int J Cardiol. 2009 Feb 6;132(1):38-44. doi: 10.1016/j.ijcard.2008.04.075. Epub 2008 Aug 8.
2
Twenty-four-month alpha-galactosidase A replacement therapy in Fabry disease has only minimal effects on symptoms and cardiovascular parameters.法布里病患者接受为期24个月的α-半乳糖苷酶A替代疗法，对症状和心血管参数仅有极小的影响。
J Inherit Metab Dis. 2008 Jun;31(3):432-41. doi: 10.1007/s10545-008-0848-3. Epub 2008 May 23.
3
Fabry's disease cardiomyopathy: echocardiographic detection of endomyocardial glycosphingolipid compartmentalization.
法布里病心肌病：心内膜糖鞘脂分隔的超声心动图检测
J Am Coll Cardiol. 2006 Apr 18;47(8):1663-71. doi: 10.1016/j.jacc.2005.11.070. Epub 2006 Mar 29.
4
The variation of morphological and functional cardiac manifestation in Fabry disease: potential implications for the time course of the disease.法布里病中心脏形态和功能表现的变化：对疾病病程的潜在影响。
Eur Heart J. 2005 Jun;26(12):1221-7. doi: 10.1093/eurheartj/ehi143. Epub 2005 Feb 23.
5
Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy.晚发性肥厚型心肌病女性患者中法布里病的患病率。
Circulation. 2004 Aug 31;110(9):1047-53. doi: 10.1161/01.CIR.0000139847.74101.03. Epub 2004 Aug 16.
6
Fabry disease in childhood.儿童期法布里病
J Pediatr. 2004 May;144(5 Suppl):S20-6. doi: 10.1016/j.jpeds.2004.01.051.
7
Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease. Evidence for a disease specific abnormality of the myocardial interstitium.钆增强心血管磁共振成像在安德森-法布里病中的应用。心肌间质疾病特异性异常的证据。
Eur Heart J. 2003 Dec;24(23):2151-5. doi: 10.1016/j.ehj.2003.09.017.
8
Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study.法布里病患者酶替代治疗期间心脏功能的改善：一项前瞻性应变率成像研究。
Circulation. 2003 Sep 16;108(11):1299-301. doi: 10.1161/01.CIR.0000091253.71282.04. Epub 2003 Sep 2.
9
Early detection of Fabry cardiomyopathy by tissue Doppler imaging.通过组织多普勒成像早期检测法布里心肌病。
Circulation. 2003 Apr 22;107(15):1978-84. doi: 10.1161/01.CIR.0000061952.27445.A0. Epub 2003 Mar 31.
10
Cardiac manifestations of Anderson-Fabry disease in heterozygous females.杂合子女性安德森-法布里病的心脏表现
J Am Coll Cardiol. 2002 Nov 6;40(9):1668-74. doi: 10.1016/s0735-1097(02)02380-x.