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Dilated cardiomyopathy vs. non-dilated left ventricular dysfunction: genotype-phenotype relationship and outcome

Irina Bellisario1, Alberto Aimo2, Giancarlo Todiere3

  • 1Department of Neuroscience, Imaging and Clinical Sciences, University of Chieti-Pescara, Italy.

International Journal of Cardiology
|March 5, 2026
PubMed

Insights

Genetic mutations did not predict outcomes in dilated cardiomyopathy (DCM) and non-dilated left ventricular dysfunction (NDLVD). Biventricular systolic function and LV filling pressure are key prognostic indicators for these non-ischemic cardiomyopathies.

Area of Science:

  • Cardiology
  • Genetics
  • Cardiovascular Imaging

Background:

  • Dilated cardiomyopathy (DCM) and non-dilated left ventricular dysfunction (NDLVD) present heterogeneous genetic profiles and prognoses.
  • Understanding the genotype-phenotype relationship is crucial for managing these conditions.

Purpose of the Study:

  • To investigate the relationship between genetic mutations and clinical presentation in DCM and NDLVD patients.
  • To identify prognostic factors for cardiovascular events in patients with non-ischemic cardiomyopathy.

Main Methods:

  • Included 249 patients with left ventricular ejection fraction (LVEF) <57% undergoing clinical, genetic, and cardiac magnetic resonance (CMR) assessment.
  • Categorized patients into DCM or NDLVD based on LV dilation criteria, excluding other cardiac pathologies.
  • Assessed a composite endpoint of cardiovascular death, sustained ventricular arrhythmias, or defibrillator intervention, and a secondary endpoint including heart failure hospitalizations.

Main Results:

  • Pathogenic/likely pathogenic mutations were found in 27% of patients but showed no association with phenotype or prognosis.
  • During follow-up (median 72 months), 22% experienced the primary composite event and 27% the secondary endpoint.
  • Multivariate analysis identified male sex, disease duration, natriuretic peptides, non-sustained ventricular arrhythmias, LVEF, left atrial volume, and CMR-derived LV filling pressure as predictors of poor prognosis.

Conclusions:

  • In non-ischemic cardiomyopathy, biventricular systolic function, left atrial volume, and CMR-derived LV filling pressure predict poor prognosis.
  • Genetic mutations were not found to be significant predictors of outcome in this cohort.
Abstract

Keywords:
Dilated cardiomyopathyGene mutationsLate enhancementLeft ventricular dysfunctionPrognosis

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