In order to bring you the best possible user experience, this site uses Javascript. If you are seeing this message, it is likely that the Javascript option in your browser is disabled. For optimal viewing of this site, please ensure that Javascript is enabled for your browser.

The free consultation period for this content is over.

It is now only available year-round to HFA Silver & Gold Members, Fellows of the ESC and Young combined Members

Predominant cardiac involvement in laminopathy diagnosed at pretransplant assessment

Session Poster Session 4

Speaker Katarina Hromanikova

Event : Heart Failure 2019

  • Topic : heart failure
  • Sub-topic : Chronic Heart Failure: Comorbidities
  • Session type : Poster Session

Authors : K Hromanikova (Prague,CZ), M Kubanek (Prague,CZ), A Krebsova (Prague,CZ), P Votypka (Prague,CZ), M Macek (Prague,CZ), V Melenovsky (Prague,CZ), J Kautzner (Prague,CZ)

K Hromanikova1 , M Kubanek1 , A Krebsova1 , P Votypka2 , M Macek2 , V Melenovsky1 , J Kautzner1 , 1Institute for Clinical and Experimental Medicine (IKEM) - Prague - Czechia , 2Motol University Hospital, 2. Department of Human Biology and Medical Genetics - Prague - Czechia ,



Clinical presentation of laminopathies  is variable, ranging from predominant muscular disease in Emery- Dreyfuss muscular dystrophy /EDM/  to isolated cardiac involvement with early conduction disease,  progressive heart failure and  ventricular tachyarrhythmias.

Case description:

A 16-year-old girl with a negative family history of heart disease was referred to our department in February 2018 due to rapid progression of  left ventricular systolic dysfunction (from ejection fraction 40% to 28%) and atrial tachyarrhythmias. Previously, she was followed by pediatric cardiologists and underwent endomyocardial biopsy  to exclude  myocarditis, genetic testing and repeated cardioversions  due to atrial tachyarrhythmias. Despite amiodarone therapy, atrial fibrillation and atypical atrial flutter persisted and the patient was repeatedly hospitalised for congestive heart failure with the necessity for inotropic support after initial examination in our department.  In the search for etiology of heart failure, we noticed mild elbow contractures with otherwise normal neurological status and normal values of serum creatinkinase of 2.59 ukat/l. Genetic testing revealed pathogenic (Class 4), de novo mutation in lamin A/C gene ( LMNA:c241T>G, p.Tyr81Asp). Clinical diagnosis was made of Emery-Dryefuss myopathy with predominant cardiac involvement. The patient was listed for heart transplantation in June 2018 and one month later successfully transplanted. At this period, family screening is being performed.


This case-report demonstrates that laminopathy should be considered in patients with progressive non-ischemic heart failure even in the absence of myopathy.  The correct diagnosis may have important prognostic implications for the family of the proband.

Members get more

Join now
  • 1ESC Professional Members – access all resources from general ESC events 
  • 2ESC Association Members (Ivory, Silver, Gold) – access your Association’s resources
  • 3Under 40 or in training - with a Combined Membership, access all resources
Join now

Our sponsors

ESC 365 is supported by Bayer, Boehringer Ingelheim and Lilly Alliance, Bristol-Myers Squibb and Pfizer Alliance, Novartis Pharma AG and Vifor Pharma in the form of educational grants. The sponsors were not involved in the development of this platform and had no influence on its content.

logo esc

Our mission: To reduce the burden of cardiovascular disease

Who we are