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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, Beijing102218, China
Lanting Zhao
Affiliation:
Cardiology Department, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Changping District, Beijing102218, China
Ping Zhang*
Affiliation:
Cardiology Department, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Changping District, Beijing102218, 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
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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