PhD Scientific Days 2024

Poster Session M - Cardiovascular Medicine and Research 1.

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

Előadó neve

Dr. Mester, Balázs

Neptun code

EB2FOK

Előadó munkahelye

Semmelweis University, Heart and Vascular Centre

Előadó telefonszáma

+36202061256

Előadó e-mail címe

balazs.mester207@gmail.com

Az előadás címe

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

Szerző(k) neve és munkahelye

Dr. Balázs Mester¹, Dr. Kinga Grebur¹, Zoltán Lipták¹, Dr. Kristóf Farkas-Sütő¹, Dr. Márton Horváth¹, Dr. Anna Réka Kiss PhD¹, Dr. Zsófia Gregor PhD¹, Dr. Alexandra Fábián PhD¹, Dr. Attila Kovács PhD¹, Dr. Bálint András Fekete², Dr. Katalin Csonka PhD², Prof. Dr. Csaba Bödör PhD², Prof. Dr. Béla Merkely PhD¹, Dr. Andrea Szűcs PhD¹

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

Bemutatás módja

Poszter

Szekció

Poster Session M - Cardiovascular Medicine and Research 1.

Language of the presentation

Hungarian

Preferred session

Cardiovascular Medicine and Research

Összefoglaló szövege

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

University

Semmelweis University

Supervisor

Dr. Andrea Szűcs PhD

Publication of my abstract

I give consent to the publication of my abstract on the website of the congress.

Kind

Szabad

Status

elfogadva

Accepted presentation method

poszter

Előadás fájl jóváhagyás

nem rendelkezett róla

Előadó

8082

Start

16:10

End

16:13