Article Text

Download PDFPDF
Dilated cardiomyopathy: the role of genetics, highlighted in a family with Filamin C (FLNC) variant
  1. Jason N Dungu1,2,
  2. Samantha G Langley1,
  3. Amy Hardy-Wallace1,
  4. Brian Li1,2,
  5. Rossella M Barbagallo1,
  6. Duncan Field1,
  7. Tessa Homfray3,
  8. Henry Oluwasefunmi Savage1,2
  1. 1Cardiology, Essex Cardiothoracic Centre, Mid & South Essex NHS Foundation Trust, Basildon, UK
  2. 2Circulatory Health Research Group, Anglia Ruskin University, Chelmsford, UK
  3. 3Royal Brompton & Harefield NHS Foundation Trust, London, UK
  1. Correspondence to Dr Jason N Dungu, Cardiology, Essex Cardiothoracic Centre, Basildon, Essex, UK; j.dungu{at}nhs.net

Abstract

Dilated cardiomyopathy (DCM) is a heterogenous group of disorders characterised by left ventricular dilatation and dysfunction, in the absence of factors affecting loading conditions such as hypertension or valvular disease, or significant coronary artery disease. The prevalence of idiopathic DCM is estimated between 1:250 and 1:500 individuals. Determining the aetiology of DCM can be challenging, particularly when evaluating an individual and index case with no classical history or investigations pointing towards an obvious acquired cause, or no clinical clues in the family history to suggest a genetic cause. We present a family affected by DCM associated with Filamin C variant, causing sudden cardiac death at a young age and heart failure due to severe left ventricular impairment and myocardial scarring. We review the diagnosis and treatment of DCM, its genetic associations and potential acquired causes. Thorough assessment is mandatory to risk stratify and identify patients who may benefit from primary prevention implantable cardioverter defibrillator therapy according to international guidelines. Genetic testing has some limitations, and is positive in only 20%–35% of DCM, but should be considered in specific cases to identify families who may benefit from cascade screening after appropriate counselling. The management of often complex familial cardiomyopathy requires specialist input for every case, and the appropriate infrastructure to coordinate investigations.

  • magnetic resonance imaging
  • echocardiography
  • cardiomyopathies
  • cardiomyopathy
  • dilated
  • heart failure

Statistics from Altmetric.com

Footnotes

  • Twitter @jasondungu, @savodoccom

  • Contributors All authors contributed to drafting and editing of the attached manuscript, along with final approval of the work.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.