PhD Scientific Days 2022

Clinical Medicine I. (Poster discussion will take place in the Aula during the Coffee Break)

Genetic insights into Left Ventricular Noncompaction

Előadó neve

Dr. Grebur, Kinga

Előadó munkahelye

Semmelweis University, Heart and Vascular Centrum

Előadó telefonszáma

+36303456433

Előadó e-mail címe

gkinga9611@gmail.com

Az előadás címe

Genetic insights into Left Ventricular Noncompaction

Szerző(k) neve és munkahelye

Grebur Kinga 1, Mester Balázs 1, Fekete Bálint András 2, Gregor Zsófia 1, Kiss Anna Réka, 1 Horváth Márton 1, Bödör Csaba 3, Dohy Zsófia 1, Sepp Róbert 4, Merkely Béla 1, Vágó Hajnalka 1, Szűcs Andrea 1

1 Semmelweis University, Heart and Vascular Centrum, Budapest
2 Institute of Genomic Medicine and Rare Disorders, Budapest
3 1st Department of Pathology and Experimental Cancer Research, Budapest
4 University of Szeged, Department of Medicine, Non-Invasive Cardiology Department, Cardiology

Bemutatás módja

Poszter

Szekció

Clinical Medicine I. (Poster discussion will take place in the Aula during the Coffee Break)

Language of the presentation

Hungarian

Preferred session

Clinical Medicine

Összefoglaló szövege

The genetic background of left ventricular noncompaction (LVNC) is highly heterogeneous and could be associated with the wide clinical range from asymptomatic condition to heart failure.

We aimed to follow-up cardiac MRI parameters, describe the genetic and clinical characteristics, and analyze the genotype-phenotype and the age and genotype relationship in a LVNC population with good left ventricular ejection fraction (EF).

In our prospective follow-up study, delivered between 2009 and 2021 at the Semmelweis University Heart and Vascular Center, 27 LVNC patients (18 male, mean age: 37±13.7 year, mean EF: 66±4.9%) with good EF and without any comorbidities were included; 6 person was under 18 years at the enrollment. Two groups (5 years, n=17; 10 years, n=10) were formed to assess follow-up. The genetic samples were analyzed using the NGS 106 gene panel; the variants were classified according to the ACMG guideline using VarSome software.

Genetic testing distinguished 17 patients with pathogen (P) and 10 with benign (B) genotype without significant differences in cardiac MRI parameters. Regarding the total population, no significant changes were detected in volumetric parameters during the follow-up; however, the trabecular/compact muscle mass and the trabecular mass/end-diastolic volume ratios showed a significant increase after 5 years. Clinical symptoms were more pronounced in carriers of P variant as arrhythmia (P:58.8%; B:40.0%), and positive family history (P:23.5%; B:10.0%) were more frequent, while sudden cardiac death, syncope and thromboembolism occurred only in this group. Interestingly, P genotype was diagnosed in 83.3% of patients in childhood and only in 57.1% of cases in adults.

Despite the fact that only minor morphological differences were found between the P and B groups in our pilot follow-up study, our results highlight the relationship between clinical variability and genetic background and their role in risk stratification in LVNC patients.

EFOP-3.6.3.-VEKOP-16-2017-00009

University and Doctoral School

Semmelweis University, Doctoral School of Theoretical and Translational Medicine

Supervisor

Dr. Szűcs Andrea

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

6844

Start

10:55

End

11:00

Authors (legacy)

Grebur Kinga 1, Mester Balázs 1, Fekete Bálint András 2, Gregor Zsófia 1, Kiss Anna Réka, 1 Horváth Márton 1, Bödör Csaba 3, Dohy Zsófia 1, Sepp Róbert 4, Merkely Béla 1, Vágó Hajnalka 1, Szűcs Andrea 1

1 Semmelweis University, Heart and Vascular Centrum, Budapest
2 Institute of Genomic Medicine and Rare Disorders, Budapest
3 1st Department of Pathology and Experimental Cancer Research, Budapest
4 University of Szeged, Department of Medicine, Non-Invasive Cardiology Department, Cardiology