Heart failure & cardiomyopathies

Late gadolinium enhancement distribution patterns in non-ischaemic dilated cardiomyopathy: genotype–phenotype correlation

Eur Heart J Cardiovasc ImagingPublished Multicentre cohort study

Authors' conclusion

LGE patterns in DCM have a specific distribution according to the affected gene. Certain LGE patterns are associated with an increased risk of MVA and with an increased yield of genetic testing.

Study context

Population
Patients with non-ischaemic dilated cardiomyopathy (DCM) undergoing CMRfinal cohort of 600
Participants
577 patients
Exposure
Late gadolinium enhancement (LGE) patterns by causative gene
Outcome
LGE patterns according to genotype
Methodological details20 Spanish centres
  • 20 Spanish centres

Main finding

As reported in the abstract

LGE presence / subepicardial LGE by gene
GroupValueLGESubepicardial LGE
TNNT20%0%
RBM205%5%
MYH720%20%
DMD50%50%
DSP41%41%
FLNC18%18%

Value

TNNT20%
RBM205%
MYH720%
DMD50%
DSP41%
FLNC18%

LGE

TNNT20%
RBM205%
MYH720%
DMD— not stated in the abstract
DSP— not stated in the abstract
FLNC— not stated in the abstract

Subepicardial LGE

TNNT2— not stated in the abstract
RBM20— not stated in the abstract
MYH7— not stated in the abstract
DMD50%
DSP41%
FLNC18%
Significant differences in LGE patterns between genes
P < 0.001
Causative genetic variant identified
219 (38%)
LGE present
147 (25.5%)

Observational data: associations, not effects.

Further findings

Major ventricular arrhythmias by LGE pattern

Subepicardial, lineal midwall, transmural, RV insertion point or combined LGE patterns: increased major ventricular arrhythmias (MVA) risk vs no LGE

Genetic yield by LGE pattern

Genetic yield differed according to LGE patterns

Original publication

Late gadolinium enhancement distribution patterns in non-ischaemic dilated cardiomyopathy: genotype–phenotype correlation. Eur Heart J Cardiovasc Imaging. Published 10 August 2023. doi:10.1093/ehjci/jead184

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