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小儿肥厚型心肌病继发于 Danon 病。

Paediatric hypertrophic cardiomyopathy secondary to Danon disease.

机构信息

Department of Cardiovascular Surgery, State Key Laboratory of Cardiovascular Disease, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences, Peking Union Medical College, Fuwai Hospital, Beijing, China.

Department of Pathology, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital and Institute, Beijing, China.

出版信息

Cardiol Young. 2024 Jan;34(1):201-204. doi: 10.1017/S1047951123003815. Epub 2023 Nov 22.

Abstract

Danon disease is a rare X-linked disorder caused by deficiency of the lysosome-associated membrane protein-2. We report a case of hypertrophic obstructive cardiomyopathy secondary to a novel mutation in the lysosome-associated membrane protein-2 gene in a 10-year-old male adolescent. We performed a modified extended Morrow procedure to minimise the risk of death and improve the patient's quality of life. The patient did not have exertional dyspnoea, and auscultation did not reveal a cardiac murmur at 1-year follow-up.

摘要

Danon 病是一种罕见的 X 连锁疾病,由溶酶体相关膜蛋白-2 缺乏引起。我们报告了一例 10 岁男性青少年因溶酶体相关膜蛋白-2 基因突变导致的肥厚型梗阻性心肌病。我们进行了改良的扩展 Morrow 手术,以降低死亡风险并提高患者的生活质量。在 1 年随访时,患者没有出现运动性呼吸困难,听诊也没有发现心脏杂音。

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