Hostname: page-component-586b7cd67f-2plfb Total loading time: 0 Render date: 2024-11-23T01:02:49.756Z Has data issue: false hasContentIssue false
  • English
  • Français

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: [email protected]
Get access Rights & Permissions [Opens in a new window]

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

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

Footnotes

‡

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

References

Jacob, KN, Garg, A. Laminopathies: multisystem dystrophy syndromes. Mol Genet Metab 2006; 87: 289–302.CrossRefGoogle ScholarPubMed
Worman, HJ, Bonne, G. “Laminopathies”: a wide spectrum of human diseases. Exp Cell Res 2007; 313: 2121–2133.CrossRefGoogle ScholarPubMed
Cowan, JR, Kinnamon, DD, Morales, A, Salyer, L, Nickerson, DA, Hershberger, RE. Multigenic disease and bilineal inheritance in dilated cardiomyopathy is illustrated in nonsegregating LMNA pedigrees. Circ Genomic Precis Med 2018; 11: e002038.CrossRefGoogle ScholarPubMed
Kawakami, H, Ogimoto, A, Tokunaga, N et al. A novel truncating LMNA mutation in patients with cardiac conduction disorders and dilated cardiomyopathy. Int Heart J 2018; 59: 531–541.CrossRefGoogle ScholarPubMed
D’Ambrosio, P, Petillo, R, Torella, A et al. Cardiac diseases as a predictor warning of hereditary muscle diseases. The case of laminopathies. Acta Myol Myopathies Cardiomyopathies 2019; 38: 33–36.Google ScholarPubMed