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Dilated cardiomyopathy and arrhythmogenic left ventricular cardiomyopathy: a comprehensive genotype-imaging phenotype

João B Augusto1,2, Rocio Eiros3, Eleni Nakou1

  • 1Barts Heart Centre, St Bartholomew's Hospital, London, UK.

European Heart Journal. Cardiovascular Imaging
|July 19, 2019
PubMed

Insights

Genetic mutations in desmoplakin (DSP) and filamin C (FLNC) genes are linked to a distinct myocardial scar pattern in arrhythmogenic left ventricular (LV) cardiomyopathy. This subepicardial, ring-like scar is a key imaging phenotype for diagnosing this condition.

Area of Science:

  • Cardiology
  • Genetics
  • Medical Imaging

Background:

  • Myocardial scar on cardiovascular magnetic resonance is associated with sudden cardiac death in dilated cardiomyopathy (DCM).
  • Certain genetic causes of DCM present a malignant arrhythmogenic phenotype.
  • Arrhythmogenic left ventricular (LV) cardiomyopathy (ALVC) and arrhythmogenic DCM are poorly defined entities.

Purpose of the Study:

  • To investigate if a distinctive imaging phenotype defines arrhythmogenic left ventricular cardiomyopathy (ALVC).
  • To differentiate between DSP/FLNC genotypes and other DCM genotypes using cardiac imaging.

Main Methods:

  • Eighty-nine patients with DCM-associated mutations were phenotyped.
  • Clustering analysis identified two groups: 'DSP/FLNC genotypes' and 'non-DSP/FLNC'.
  • Cardiovascular magnetic resonance imaging was used to assess LV myocardial scar and function.

Main Results:

  • A subepicardial, ring-like LV late gadolinium enhancement pattern was observed in 78.1% of DSP/FLNC genotypes, but absent in others (P < 0.001).
  • DSP/FLNC genotypes showed more LV regional wall motion abnormalities (P < 0.001).
  • DSP/FLNC patients with non-sustained ventricular tachycardia had more LV scar, while other DCM genotypes with NSVT had lower LVEF.

Conclusions:

  • DSP/FLNC genotypes are associated with more regionality in LV impairment.
  • A subepicardial ring-like scar pattern is the most defining characteristic of DSP/FLNC genotypes.
  • This imaging phenotype should be considered for future diagnostic criteria for ALVC.
Abstract

Keywords:
arrhythmogenic cardiomyopathycardiac magnetic resonancedilated cardiomyopathygenotypelate gadolinium enhancement

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