PhD Scientific Days 2025

Poster Session I. - T: Cardiovascular Medicine and Research

Inherited Hypertrabeculation? Genetic and Clinical Insights in Blood Relatives of Genetically Affected Left Ventricular Excessive Trabeculation Patients

Name of the presenter

Mester Balázs

Institute/workplace of the presenter

Semmelweis University Heart and Vascular Centre

Authors

Dr. Mester Balázs¹, Lipták Zoltán¹, Dr. Farkas-Sütő Kristóf Attila¹, Dr. Grebur Kinga¹, Gyulánczi Flóra¹, Dr. Fábián Alexandra PhD¹, Dr. Fekete Bálint András², György Tamás Attila², Prof. Dr. Bödör Csaba PhD², Dr. Kovács Attila PhD¹, Prof. Dr. Merkely Béla PhD¹, Dr. Szűcs Andrea PhD¹

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

Text of the abstract

Introduction:
Genetically determined left ventricular excessive trabeculation (LVET) has a wide clinical spectrum ranging from asymptomatic subjects to severe heart failure with arrhythmias and thromboembolic events. Unlike other cardiomyopathies, the relatives of LVET patients never reach the spotlight of guidelines and clinical practice, although these family members can be often affected by these conditions.
Aims:
Thus, we aimed to investigate the relatives of LVET by multidimensional analysis, such as genetic testing, ECG and car-diac ultrasound (ECHO).
Method:
We included 55 blood relatives from the family of 18 LVET pa-tients (male = 27, age = 44 ± 20.8y), who underwent anamnesis registration. With Sanger sequencing, the relatives were classified into genetically positive (GEN-pos) and unaf-fected (GEN-neg) subgroups. In addition to regular ECG parameters, Sokolow-Lyon In-dex (SLI) values were calculated. 2D ECHO images were analysed with TomTec Arena, evaluating LV volumetric, functional (EF) and strain parameters. Individuals were cate-gorized into JENNI-pos and JENNI-neg morphological subgroups according to the Jenni LVET ECHO criteria.
Results:
Family history showed frequent involvement (arrhythmia 61%, stroke 56%, syncope 39%, sudden cardiac death 28%, implanted device 28%), as well as personal anamnesis (subjective symptoms 75%, arrhythmias 44%). ECG and ECHO pa-rameters were within the normal range. In terms of genetics, 78% of families and 38% of relatives carried the index mutation. LV_SLI and QT duration were lower in the GEN-pos group; ECHO parameters were comparable in the subgroups. Morphologically, 33% of the relatives met Jenni-LVET criteria were genetically affected and showed lower LV_EF values.
Conclusion:
The frequently found genetic, morphological and clinical involvement may indi-cate the importance of screening and, if necessary, regular follow-up of relatives in the genetically affected LVET population.
Funding:
TKP2021-NKTA-46, ÚNKP-23-3-1