PhD Scientific Days 2026

Poster Session 3.R - Cardiovascular Medicine and Research

Cardiogenetic abnormalities in recreational and competitive athletes

Előadó neve

Dr. Meskó, Csongor

Neptune code

JD4SBK

Előadó munkahelye

Heart and Vascular Centre, Semmelweis University

Előadó telefonszáma

20/2802703

Előadó e-mail címe

mesko.csongor.zoltan@semmelweis.hu

Az előadás címe

Cardiogenetic abnormalities in recreational and competitive athletes

Szerző(k) neve és munkahelye

Csongor Meskó¹, Anna Bódi¹, Árpád Ferenc Kovács¹, Katalin Csonka², Kristóf Balázs Árvai², Dorottya Balla¹, Liliána Szabó¹, Emese Csulak¹, Máté Babity¹, Márk Zámodics¹, Orsolya Kiss¹, Nóra Sydó¹, Béla Merkely¹, Csaba Bödör², Hajnalka Vágó¹

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

Bemutatás módja

Poszter

Szekció

Poster Session 3.R - Cardiovascular Medicine and Research

Language of the presentation

Hungarian

Preferred session

Cardiovascular Medicine and Research

Összefoglaló szövege

Introduction: Regular physical activity has many well-known health benefits; however, in the presence of certain heart diseases, it may also carry risks. Approximately 1 in 200 individuals in the general population harbor pathogenic genetic variants predisposing to cardiomyopathies or ion channel disorders.

Aims: The aim of our study was to identify genetic abnormalities in athletes evaluated for suspected cardiac disease, examine their associations with clinical characteristics, and perform short-term follow-up.

Methods: We analyzed the cardiological and cardiogenetic results of cases referred for cardiogenetic testing at the Városmajor Heart and Vascular Center between January 1, 2025 and November 1, 2025. Genetic testing was performed using the Illumina TruSight Cardio 174-gene panel. Patients were followed up.

Results: During the study period, cardiogenetic testing was performed in 221 cases, of whom 62 were regular athletes (47 male; mean age at suspected diagnosis: 38±19 years; recreational athletes: n=47, training volume: 2.9±1.7 h/week; competitive athletes: n=15, training volume: 7.9±3.5 h/week). Most tests were initiated because of suspected structural cardiomyopathy or ion channel disease; in 5 cases after resuscitation or sustained ventricular tachycardia, and in 2 cases post mortem. Pathogenic/likely pathogenic variants were identified in 27.4% (n=17, 12 men), and variants of uncertain significance in 11.3% (n=7, 5 male). The most frequent findings were pathogenic variants associated with hypertrophic cardiomyopathy (HCM) (MYBPC3 n=6; MYH7 n=2). In addition, abnormalities consistent with long QT syndrome (KCNQ1) were found in 4 patients, arrhythmogenic cardiomyopathy (PKP2) in 2 patients, and dilated cardiomyopathy (TTN) in 2 patients. Post mortem analyses identified pathogenic variants associated with catecholaminergic polymorphic ventricular tachycardia (RYR2) and dilated cardiomyopathy (TTN). During short-term follow-up, no further athlete deaths occurred.

Conclusion: Pathogenic/likely pathogenic variants were confirmed in 27.4% of the studied athletes, most commonly as HCM-related genetic abnormalities. Cardiogenetic testing may play a key role in supporting clinical decision-making, risk stratification, and assessment of safe sports participation in athletes.

Funding: TKP2021-NKTA-46

University

Semmelweis University

Supervisor

Hajnalka Vágó

Publication of my abstract

I do not give consent to the publication of my abstract on the website of the congress.

phd.section.field

in doctoral studies before complex exam (PhD)

Kind

Szabad

Status

elfogadva

Accepted presentation method

poszter

Előadás fájl jóváhagyás

nem rendelkezett róla

Előadó

9718

Start

13:30

End

13:33