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Inherited Hypertrabeculation? Genetic and Clinical Insights in Blood Relatives of Genetically Affected Left
Balázs Mester1, Zoltán Lipták1, Kristóf Attila Farkas-Sütő1
1Heart and Vascular Centre, Semmelweis University, 1085 Budapest, Hungary.
Insights
Genetic testing reveals that many relatives of left ventricular excessive trabeculation (LVET) patients carry the mutation. This highlights the need for screening and follow-up in affected families to manage potential cardiac conditions.
Area of Science:
- Cardiology
- Genetics
- Medical Diagnostics
Background:
- Genetically determined left ventricular excessive trabeculation (LVET) presents a broad clinical spectrum, from asymptomatic cases to severe heart failure.
- Relatives of LVET patients are often affected but are not typically prioritized in clinical guidelines or practice.
Purpose of the Study:
- To investigate the genetic, electrocardiographic (ECG), and echocardiographic (ECHO) characteristics of LVET patients' relatives.
- To assess the prevalence of LVET-related conditions within families of affected individuals.
Main Methods:
- Studied 55 blood relatives of 18 LVET patients using anamnesis, Sanger sequencing, ECG (including Sokolow-Lyon Index - SLI), and 2D ECHO (TomTec Arena for volumetric, functional, and strain parameters).
- Classified relatives into genetically positive (GEN-pos) and unaffected (GEN-neg) subgroups, and morphologically into JENNI-pos and JENNI-neg subgroups based on Jenni LVET ECHO criteria.
Main Results:
- 38% of relatives carried the LVET mutation; 78% of families had at least one affected member.
- While most ECG and ECHO parameters were normal, GEN-pos individuals had lower LV_SLI and QT duration.
- 33% of relatives meeting Jenni-LVET criteria were genetically affected and exhibited lower left ventricular ejection fraction (LV_EF).
Conclusions:
- Significant genetic, morphological, and clinical involvement exists among relatives of LVET patients.
- Routine screening and follow-up are recommended for relatives of genetically affected LVET individuals to detect and manage potential cardiac issues early.
Abstract:
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.
