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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)

Authors:
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 ,

Citation:

Introduction:

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.

Conclusion:

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.

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