PhD Scientific Days 2026

Poster Session 1.P - Cardiovascular Medicine and Research

Sex-related Differences in Left Ventricular Excessive Trabeculation

Name of the presenter

Grebur, Kinga

Institute/workplace of the presenter

Semmelweis University, Heart and Vascular Center

Authors

Kinga Grebur MD, PhD¹, Balázs Mester MD¹, Kristóf Farkas-Sütő MD¹, Flóra Gyulánczi MD¹, Márton Horváth MD¹, Zsófia Gregor MD, PhD¹, Bálint András Fekete MD², Csaba Bödör PhD², Hajnalka Vágó MD, PhD¹, Béla Merkely MD, PhD¹, Andrea Szűcs MD, PhD¹
1: Semmelweis University, Heart and Vascular Center
2: Semmelweis University

Text of the abstract

Introduction
Left ventricular excessive trabeculation (LVET) is approximately twice as prevalent in males (M) as in females (F). However, the relationship between sex and the hypertrabeculated phenotype, genetic profile, and clinical manifestations remains unclear.
Aims
In this study, we aimed to investigate sex-related differences in the expression of the hypertrabeculated phenotype, CMR parameters, genetic involvement, and clinical manifestations in a population with LVET.
Methods
A total of 54 patients (33 M, 39±14 years; 21 F, 42±14 years) were enrolled from our national LVET registry based on these inclusion criteria: preserved left ventricular ejection fraction (LVEF:65±5%), the presence of at least one cardiac symptom or positive family history of LVET, available CMR imaging and genetic testing results. Left ventricular volumetric, functional and muscle mass parameters were quantified on CMR images using the Medis Suite software. Personal and family history were assessed during cardiogenetic consultations. Genetic testing was performed with a 174-gene next-generation sequencing panel.
Results
In M with LVET phenotype, significantly higher volumes and myocardial mass were observed compared with F, whereas no significant differences were found in functional parameters. Trabecular mass was significantly higher in M; however, no differences were observed in the distribution or morphology of LVET. Regarding genetic involvement, pathogenic variants tended to be more frequent in F (38% F, 21% M), with TTN mutations predominating in this cohort. No relevant sex-differences were observed in the prevalence of variants of unknown significant and sporadic cases. Analyzing the clinical manifestations of LVET, we reported that dizziness was significantly more frequent in F (71% F, 42% M; p=0.035). In addition, a non-significant trend toward a higher prevalence of other subjective symptoms—such as palpitations and atypical chest pain—as well as positive family history and non-documented arrhythmias, was observed in F. No differences were observed in documented arrhythmias or ECG abnormalities.
Conclusion
Our study demonstrated that although the hypertrabeculated phenotype was comparable between sexes, pathogenic variants and cardiac symptoms were more frequently observed in female LVET.
Funding
This project was funded by the Predoctoral Scholarship program.