PhD Scientific Days 2025

Poster Session II. - U: Cardiovascular Medicine and Research

Quantitative Assessment of Compact and Noncompact Myocardial Layer Thickness in Excessive Trabeculation with Preserved Left Ventricular Function: Genotype-Phenotype Associations

Name of the presenter

Grebur Kinga

Institute/workplace of the presenter

Semmelweis University, Heart and Vascular Center

Authors

Kinga Grebur¹, Balázs Mester¹, Kristóf Farkas-Sütő¹, Flóra Gyulánczi¹, Zsófia Gregor¹, Anna Réka Kiss¹, Márton Horváth¹, Bálint András Fekete², Csaba Bödör², Hajnalka Vágó¹, Béla Merkely¹, Andrea Szűcs¹

1: Semmelweis University, Heart and Vascular Center
2: Semmelweis University, Department of Pathology and Experimental Cancer Research

Text of the abstract

Introduction
Compact layer thickness (CLT) below 5 mm has been identified as a prognostic parameter in noncompaction with heart failure, but the significance of CLT in genetically affected excessive trabeculated (LVET) individuals with preserved left ventricular function (LVEF) is unknown.
Aims
We aimed to investigate CLT and noncompact layer thickness (NCLT) in symptomatic LVET individuals with preserved LVEF; to compare these parameters to a control population (C); and to analyse their associations with genetic mutations and clinical manifestation.
Methods
Cardiac MRI images of the 54 LVET (40±14 years, 21 female, EF 65%) and 54 C (39±15 years, 21 female, EF 69%) subjects were used to determine left ventricular volumetric and EF, total, compact and trabeculated muscle mass, basal (bas), mid-ventricular (mid) and apical (apic) CLT and NCLT parameters. Based on the results of the genetic analysis with the 174-gene TruSight Cardio panel, three LVET subgroups were formed: benign (B, n=12), unknown significance (VUS, n=27) and pathogenic (P, n=15).
Results
The LVET population showed significantly higher volumetric, total and trabeculated myocardial mass, bas, mid and apic NCLT and lower EF and apic CLT (LVET: 4.8 mm; C: 5.4 mm; p<0.001) parameters compared to the C group. When comparing the genetic subgroups, significant differences were only found in the values of mid and apic CLT, being lower in P subjects compared to the VUS and B subgroups. CLT and NCLT values did not show any significant correlation with functional parameters. In contrast to NCLT, mid and apic CLT showed a significant correlation with genotype. Furthermore, apic CLT below 5 mm gave a significant association with positive family history and genetic involvement.
Conclusion
Our results suggest that CLT is significantly lower in LVET subjects carrying pathogenic genetic mutations than in sporadic cases, and thus may be useful as part of risk stratification in the follow-up of LVET subjects with preserved LVEF.
Funding
„SUPPORTED BY THE 2024-2.1.1-EKÖP-2024-00004 NEW NATIONAL EXCELLENCE PROGRAM OF THE MINISTRY FOR CULTURE AND INNOVATION FROM THE SOURCE OF THE NATIONAL RESEARCH, DEVELOPMENT AND INNOVATION FUND.”