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Paediatric hypertrophic cardiomyopathy secondary to Danon disease

Published online by Cambridge University Press:  22 November 2023

Kai Tang Open the ORCID record for Kai Tang [Opens in a new window] ,
Jiayi Wu ,
Xiaoxi Liu  and
Shuiyun Wang
Kai Tang
Affiliation:
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
Jiayi Wu
Affiliation:
Department of Pathology, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital and Institute, Beijing, China
Xiaoxi Liu
Affiliation:
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
Shuiyun Wang*
Affiliation:
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
*
Corresponding author: S. Wang; Email: wsymd@sina.com
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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.

Keywords

cardiomyopathyDanon diseaseLAMP-2mutation
Type
Brief Report
Information
Cardiology in the Young , Volume 34 , Issue 1 , January 2024 , pp. 201 - 204
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Copyright
© The Author(s), 2023. Published by Cambridge University Press

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Footnotes

Kai Tang and Jiayi Wu are contributed equally to this work.

References

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