Key result
Pathogenic variants link to apical compact myocardium under 5 mm in ~93% of excessive-trabeculation cases.
Why the study?
The precise role of the compact myocardial layer in left ventricular excessive trabeculation with preserved ejection fraction across genotypes has yet to be determined.
Is compact myocardial layer thickness associated with specific genetic backgrounds and subclinical dysfunction in patients with left ventricular excessive trabeculation and preserved EF?
Cross-Sectional (n=108)
No
Is compact myocardial layer thickness associated with specific genetic backgrounds and subclinical dysfunction in patients with left ventricular excessive trabeculation and preserved EF?
In patients with left ventricular excessive trabeculation and preserved ejection fraction, compact myocardial layer thinning (<5 mm) is associated with pathogenic genetic variants and subclinical strain abnormalities, highlighting its potential utility in early risk stratification.
Apical compact layer <5 mm may flag pathogenic variants in preserved-EF LVET; hypothesis-generating for risk stratification, needs prospective validation.
Background: Left ventricular excessive trabeculation (LVET) ranges from preserved ejection fraction (EF) morphology to reduced EF Noncompaction cardiomyopathy. Emerging evidence indicates that EF reduction is more strongly associated with thinning of the Compact myocardial layer (CL) than with trabeculation alone, although the precise role of the CL in LVET has yet to be determined. Aim: We aimed to evaluate Trabeculated layer (TL) and CL thickness in LVET subjects with preserved EF across genotypes, establish genotype-specific CL thickness cut-offs, and analyse their association with LV parameters. Methods: We enrolled 54 LVET subjects with matched healthy Controls. In CMR, functional, volumetric and myocardial-mass parameters were measured using threshold-based analysis. TL thicknesses were assessed using calliper tools and CL thickness was measured using OptiLayer software. For genetic testing, cardiac NGS panels were used; LVET subjects were classidied into Benign (B), VUS, and Pathogenic (P) subgroups according to ACMG databases. Results: LVET subjects showed thicker TL and thinner CL compared to Controls. CL thickness differed among genetic subgroups: P variants were associated with significantly thinner apical segments, with a cut-off of 5 mm (93% of P <5 mm, 41% of VUS < 5 mm, 8% of B<5 mm, p < 0.05). TL thickness showed no association with genotype. CL thickness correlated with global circumferential strain ( r = 0.461, p < 0.01), indicating subclinical dysfunction. Conclusion: CL thinning in LVET with preserved EF was associated with P genetic background and may represent early morphological alterations. These findings suggest potential roles in diagnosis, risk stratification, and follow-up, which should be further evaluated in longitudinal studies.
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Mester et al. (2026) conducted a cross-sectional in Left ventricular excessive trabeculation (LVET) (n=108). Pathogenic genetic variants vs. Benign variants was evaluated on Apical compact myocardial layer thickness < 5 mm (p=<0.05). In patients with left ventricular excessive trabeculation and preserved ejection fraction, pathogenic genetic variants were associated with an apical compact myocardial layer thickness below 5 mm in 93% of cases, compared to only 8% in those with benign variants.
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