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

Text of the abstract

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