Acquired Hypertrabeculation or Genetic Cardiomyopathy? The Role of Cardiac Magnetic Resonance

Thursday, February 5, 2026

10:43 AM - 10:50 AM

Location: Galapagos / Aruba / Ilhabela (2nd Lower Level)

Presenting Author(s)

Erika Tempo, MD

Cardiologist and Radiology resident
IRRCS Maugeri Pavia, University of Pavia
San Maurizio Canavese, Piemonte, Italy

Primary Author(s)

ML

Michele Lizzi, MD

Radiologist
ICS Maugeri Pavia, Italy

Co-Author(s)

DV

Davide Valente, MD

Radiologist
ICS Maugeri Pavia, Italy
Lorenzo Monti, MD

Cardio-radiologist, Head Radiology Unit
ICS Maugeri Pavia
Pavia, Lombardia, Italy

Background: Left ventricular noncompaction (LVNC) is characterized by prominent trabeculations and deep intertrabecular recesses. Once classified as a distinct cardiomyopathy, the 2023 ESC guidelines now regard LVNC as a morphological trait that can occur in both physiological states and diverse cardiac diseases (ESC, 2023). In clinical practice, LVNC detected by cardiac magnetic resonance (CMR) may represent a benign variant, an adaptive remodeling pattern, or the expression of an underlying genetic cardiomyopathy. Distinguishing between these scenarios is essential for accurate diagnosis, prognostic assessment, and family screening.

Methods:

Aim: This study aimed to determine whether specific CMR features can distinguish patients with a genetically confirmed cardiomyopathy from those without pathogenic variants among individuals with a CMR-based diagnosis of LVNC. In doing so, we sought to clarify whether LVNC still retains clinical value as a marker of underlying genetic disease, despite its reclassification as a morphological trait.

Methods: We retrospectively analyzed 23 patients with a CMR diagnosis of LVNC, all of whom had at least one myocardial segment with a non-compacted to compacted wall thickness ratio greater than 2.3, and all underwent genetic testing for cardiomyopathies. Patients were grouped as: Group 1 – negative or non-relevant variants (n=8), Group 2 – variants of uncertain significance (VUS; n=6), and Group 3 – pathogenic variants consistent with phenotype (n=9). Morphofunctional CMR parameters, including late gadolinium enhancement (LGE), were compared across groups.

Results: Pathogenic or VUS variants were identified in 65% of patients; 39% had a pathogenic mutation. Non-ischemic LGE was present in 0% of Group 1, 33% of Group 2, and 55% of Group 3 (p< 0.01). LGE-positive patients tended to have larger ventricular volumes and lower ejection fraction, although overlap between groups was substantial. No other CMR parameter reliably predicted genotype.

Conclusion: In patients meeting CMR criteria for LVNC, non-ischemic LGE—already indicative of myocardial disease—was almost invariably associated with a pathogenic or VUS genetic variant, suggesting an inherited rather than acquired etiology. Although absence of LGE did not exclude a genetic basis, no other morphofunctional feature consistently predicted genotype. These findings refine the clinical meaning of LGE in LVNC, supporting its role as a strong trigger for genetic testing and family screening, even after LVNC’s reclassification as a morphological trait.