Key result
Among 55 blood relatives of LVET patients, 38% carried the index mutation, with genetically positive individuals showing lower Sokolow-Lyon Index and QT duration compared to unaffected relatives.
Why the study?
Unlike other cardiomyopathies, relatives of left ventricular excessive trabeculation patients rarely reach the focus of guidelines and clinical practice, despite often being affected.
Does multidimensional screening identify genetic, morphological, and clinical involvement in blood relatives of patients with genetically determined left ventricular excessive trabeculation?
Observational (n=55)
Does multidimensional screening identify genetic, morphological, and clinical involvement in blood relatives of patients with genetically determined left ventricular excessive trabeculation?
Blood relatives of patients with genetically determined left ventricular excessive trabeculation frequently exhibit genetic, morphological, and clinical involvement, highlighting the importance of screening this population.
May support screening LVET relatives; leaves open whether it improves outcomes or warrants guideline changes.
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. Thus, we aimed to investigate the relatives of LVET by multidimensional analysis, such as genetic testing, ECG and cardiac ultrasound (ECHO). We included 55 blood relatives from the family of 18 LVET patients (male = 27, age = 44 ± 20.8y), who underwent anamnesis registration. With Sanger sequencing, the relatives were classified into genetically positive (GEN-pos) and unaffected (GEN-neg) subgroups. In addition to regular ECG parameters, Sokolow-Lyon Index (SLI) values were calculated. 2D ECHO images were analysed with TomTec Arena, evaluating LV volumetric, functional (EF) and strain parameters. Individuals were categorized into JENNI-pos and JENNI-neg morphological subgroups according to the Jenni LVET ECHO criteria. 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 parameters 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. The frequently found genetic, morphological and clinical involvement may indicate the importance of screening and, if necessary, regular follow-up of relatives in the genetically affected LVET population.
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Mester et al. (2025) conducted an observational in Left ventricular excessive trabeculation (LVET) (n=55). Genetic mutation for LVET (GEN-pos) vs. Unaffected relatives (GEN-neg) was evaluated on ECG and echocardiographic parameters. Among 55 blood relatives of LVET patients, 38% carried the index mutation, with genetically positive individuals showing lower Sokolow-Lyon Index and QT duration compared to unaffected relatives.
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