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ORIGINAL RESEARCH article

Front. Genet.

Sec. Genetics of Common and Rare Diseases

Volume 16 - 2025 | doi: 10.3389/fgene.2025.1677311

This article is part of the Research TopicNew Insights in Rare Genes Involved in Inherited Cardiac DiseasesView all 3 articles

Family-Based NGS Panel Testing of Cardiopathies and Arrhythmic Syndromes

Provisionally accepted
Hana  HrazderovaHana Hrazderova1Jana  PetrkovaJana Petrkova2,3*Anna  CrhovaAnna Crhova1Klara  HerkommerovaKlara Herkommerova1Květa  MahutovaKvěta Mahutova1Julie  NejezchlebovaJulie Nejezchlebova1Lenka  PetrkovaLenka Petrkova2Lubos  BoucekLubos Boucek1Arpad  BodayArpad Boday1Spiros  TavandzisSpiros Tavandzis1
  • 1AGEL laboratories, Dept. of Medical Genetics, Novy Jicin, Czechia
  • 2Faculty of Medicine and Dentistry, Palacký University Olomouc, Olomouc, Czechia
  • 3Fakultni nemocnice Olomouc I Interni klinika Kardiologicka, Olomouc, Czechia

The final, formatted version of the article will be published soon.

Hereditary forms of cardiovascular disease represent a highly heterogeneous group of disorders with a prevailing autosomal dominant inheritance pattern, incomplete penetrance, and variable expressivity. Segregation analysis can help elucidate the genetic aetiology of these diseases, which may be ambiguous within individual families, thereby allowing for a more accurate risk assessment of family members. In this study, we present an alternative approach to co-segregation studies based on comprehensive clinical and molecular genetic diagnostics as part of routine testing. Next-generation sequencing was performed in 58 individuals from 12 families, including asymptomatic individuals. Pathogenic sequence variants and variants of uncertain significance of genes related to cardiopathies and arrhythmic syndromes were identified in 7 families, and their segregation within these families was observed. All willing family members were tested extensively from the start of the diagnostic process, as opposed to testing only genes found in the proband. This method enabled faster risk stratification and clinical follow-up of at-risk family members, facilitating improved disease prevention and personalised patient management.

Keywords: Segregation analysis, Cardiomyopathies, arrhythmic syndromes, Risk alleles, Next-generation sequencing

Received: 31 Jul 2025; Accepted: 06 Oct 2025.

Copyright: © 2025 Hrazderova, Petrkova, Crhova, Herkommerova, Mahutova, Nejezchlebova, Petrkova, Boucek, Boday and Tavandzis. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Jana Petrkova, jana.petrkova@fnol.cz

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