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Familial dilated cardiomyopathy with a novel LMNA mutation (p.R429C): a case report

Published online by Cambridge University Press:  11 September 2020

Kun Li ,
Lanting Zhao  and
Ping Zhang Open the ORCID record for Ping Zhang [Opens in a new window]
Kun Li
Affiliation:
Cardiology Department, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Changping District, Beijing 102218, China
Lanting Zhao
Affiliation:
Cardiology Department, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Changping District, Beijing 102218, China
Ping Zhang*
Affiliation:
Cardiology Department, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Changping District, Beijing 102218, China
*
Author for correspondence: Dr Ping Zhang, Cardiology Department, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Changping District, Beijing, China. Tel: +86-010-56119519; Fax: +86 010-56118500. E-mail: zhpdoc@126.com
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Abstract

LMNA mutations cause a variety of inherited diseases referred to as laminopathies which are associated with a wide spectrum of disease phenotypes, ranging from skeletal muscle disease, pre-mature ageing, metabolic disorders, and cardiac abnormalities. We present a case of a 14-year-old boy with dilated cardiomyopathy induced by the LMNA mutation (p. R429C) and described its electrocardiogram and imaging features.

Keywords

LMNAdilated cardiomyopathyadolescencegenetic

Information

Type
Brief Report
Information
Cardiology in the Young , Volume 30 , Issue 10 , October 2020 , pp. 1544 - 1546
Copyright
© The Author(s), 2020. Published by Cambridge University Press

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Footnotes

‡

These authors contributed equally to this work and share first authorship on this work.

References

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