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Clinical Implications of Transmural Late Gadolinium Enhancement in Genotype-Positive Arrhythmogenic and Dilated

Matteo Castrichini1, Ramin Garmany1, Giovanni Multinu1

  • 1Department of Cardiovascular Medicine, Mayo Clinic, Rochester, Minnesota, USA.

JACC. Clinical Electrophysiology
|August 5, 2026
PubMed

Insights

Transmural late gadolinium enhancement (LGE) in arrhythmogenic cardiomyopathy (ACM) and dilated cardiomyopathy (DCM) identifies a high-risk group. This finding is particularly relevant for patients with LMNA and DSP variants, indicating increased arrhythmic and heart failure risk.

Area of Science:

  • Cardiology
  • Genetics
  • Medical Imaging

Background:

  • Midmyocardial and subepicardial late gadolinium enhancement (LGE) are typical in inherited arrhythmogenic cardiomyopathy (ACM) and dilated cardiomyopathy (DCM).
  • Transmural LGE, often considered ischemic, can occur in ACM/DCM but its clinical significance is not well understood.

Purpose of the Study:

  • To determine the prevalence, genetic associations, and prognostic impact of transmural LGE in genotype-positive, nonischemic ACM/DCM patients.
  • To assess the association of transmural LGE with major adverse cardiovascular events.

Main Methods:

  • Retrospective analysis of 1,379 genotype-positive ACM/DCM patients who underwent cardiac MRI.
  • Stratification of patients based on LGE patterns: transmural, nontransmural, or absent.
  • Evaluation of major ventricular arrhythmic (MVA) and advanced heart failure (AHF) events using survival analyses.

Main Results:

  • Transmural LGE was found in 5% of patients and was more common in LMNA and DSP variant carriers.
  • Patients with transmural LGE showed higher rates of thromboembolic events, atrial fibrillation, and ICD implantation.
  • Transmural LGE independently predicted a composite endpoint of MVA/AHF events.

Conclusions:

  • Transmural LGE identifies a small but high-risk subgroup within genotype-positive ACM/DCM.
  • This pattern is particularly significant in patients with LMNA and DSP variants.
  • Transmural LGE is associated with substantially increased risks of arrhythmias and heart failure progression.
Abstract

Keywords:
LGEgenetic cardiomyopathygenotype-phenotype correlation

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