PhD Scientific Days 2024

Poster Session M - Cardiovascular Medicine and Research 1.

Perpetual Hypertrabecularisation - The Importance of Family Screening in Left Ventricular Noncompaction

Text of the abstract

The clinical manifestation of genetically determined Left Ventricular Noncompaction (LVNC) can evolve from an asymptomatic form with preserved left ventricular function to cardiomyopathy with heart failure. Risk stratification, utilising anamnestic data, ECG, imaging, and genetic testing, has uncovered numerous cases of anamnestic burden in relatives of LVNC individuals. However, the existing literature on this subject remains sparse.
Our objective was to explore the clinical characteristics of LVNC, compare echocardiography (ECHO) and ECG parameters with a control group, and explore the connection between hypertrabecularisation and genetic traits.
Our research included 40 (18 male) blood relatives of 14 individuals carrying pathogenic genotypes of LVNC. These subjects were compared to a control group of 22 (13 male) individuals. Multigenerational screening (ages 7-83) included the documentation of family and personal medical history followed by an ECG. After Sanger sequencing the collected genetic samples, the individuals were categorised into a genetically affected pathological (P) and an unaffected (NA) group. An ECHO study was conducted to evaluate volumes and function; based on these findings, subjects were divided into a group with normal myocardial trabecularisation (NT) and a group with hypertrabecularisation (HT).
Of the tested relatives, 67.5% showed HT, with a significantly higher proportion of men. Five minors showed 100% HT. The history of the 14 families included a 64.29% prevalence of arrhythmias, with 44.4% also experiencing sudden cardiac death. The high incidence of stroke (57.14%), syncope (50%), and implanted pacemakers (28.57%) warrants mention. No significant difference was observed between the NT and HT groups regarding the subjective medical history.
Our findings underscore the potential familial involvement of individuals with genotype-positive LVNC, emphasising the importance of clinical screening among relatives.
Funding / Grant: TKP2021-NKTA-46, TKP2021-NKTA, RRF-2.3.1-21-2022-00004, ÚNKP-23-3-I, SE250+
Email: balazs.mester207@gmail.com
University: Semmelweis Egyetem
Supervisor: Dr. Szűcs Andrea Phd