Dilatation of the right atrium as atypical debut of cardiomyopathy caused by lamin A/C (LMNA) mutation

Authors: Borisova E.V., Glebova S.A., Kozlov P.S., Burlachenko E.P.

Company: KardioKlinika, Saint-Petersburg, ulitsa Kuznetsovskaya, 25А, 196105, Russian Federation

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Type:  Case reports


DOI: https://doi.org/10.24022/1997-3187-2020-14-4-401-406

For citation: Borisova E.V., Glebova S.A., Kozlov P.S., Burlachenko E.P. Dilatation of the right atrium as atypical debut of cardiomyopathy caused by lamin A/C (LMNA) mutation. Creative Cardiology. 2020; 14 (4): 401–6 (in Russ.). DOI: 10.24022/1997-3187-2020-14-4-401-406

Received / Accepted:  20.11.2020 / 30.11.2020

Keywords: ламинопатия дилатационная кардиомиопатия аритмии семейная частичная липодистрофия

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Abstract

Mutation in the LMNA gene, which encodes the two main lamin A and C, cause a spectrum of diseases, called laminopathies, including dilated cardiomyopathy, myopathy, lipodystrophy, akrogeria and progeria. A typical progression lamin A/C heart disease might be from premature atrial contractions to atrial arrhythmias, to сardiac сonduction disease, to hypokinetic non-dilated cardiomyopathy and to dilated cardiomyopathy, but features may present “out-of-order” and in combination. We present the case of a late diagnosis of laminopathy, manifestated dilated cardiomyopathy, myopathy and partial lipodystrophy. Cardiomyopathy was presented severe dilatation right atrium with midly dilated another chambers. Genetic testing identified LMNA, ANO5 and MYPN mutation.

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About Authors

  • Ekaterina V. Borisova, Dr. Med. Sc., Cardiologist, Chief Physician, General Director, ORCID
  • Svetlana A. Glebova, Cand. Med. Sc., Cardiologist, ORCID
  • Pavel S. Kozlov, Cand. Med. Sc., Cardiologist, Functional Diagnostics Physician, ORCID
  • Evgeniy P. Burlachenko, Radiologist, Head of Department of Radiation Diagnostics, ORCID

Chief Editor

Leo A. Bockeria, MD, PhD, DSc, Professor, Academician of Russian Academy of Sciences, President of Bakoulev National Medical Research Center for Cardiovascular Surgery