Family-based NGS panel testing of cardiopathies and arrhythmic
syndromes

J 2025

Family-based NGS panel testing of cardiopathies and arrhythmic syndromes

HRAZDEROVA, Hana; Jana PETRKOVA; Anna CRHOVA; Klara HERKOMMEROVA; Kvetoslava MAHUTOVA et al.

Základní údaje

Originální název

Family-based NGS panel testing of cardiopathies and arrhythmic syndromes

Autoři

HRAZDEROVA, Hana; Jana PETRKOVA; Anna CRHOVA; Klara HERKOMMEROVA; Kvetoslava MAHUTOVA; Julie NEJEZCHLEBOVA; Lenka PETRKOVA; Luboš BOUČEK; Arpad BODAY a Spiros TAVANDZIS

Vydání

Frontiers in Genetics, LAUSANNE, FRONTIERS MEDIA SA, 2025, 1664-8021

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30201 Cardiac and Cardiovascular systems

Stát vydavatele

Švýcarsko

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 2.800 v roce 2024

Označené pro přenos do RIV

Ano

Organizační jednotka

Lékařská fakulta

Klíčová slova anglicky

segregation analysis; cardiomyopathies; arrhythmic syndromes; risk alleles; next-generation sequencing

Štítky

14110516, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 16. 2. 2026 13:36, Mgr. Tereza Miškechová

Anotace

V originále

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.

Citovat

HRAZDEROVA, Hana; Jana PETRKOVA; Anna CRHOVA; Klara HERKOMMEROVA; Kvetoslava MAHUTOVA; Julie NEJEZCHLEBOVA; Lenka PETRKOVA; Luboš BOUČEK; Arpad BODAY a Spiros TAVANDZIS. Family-based NGS panel testing of cardiopathies and arrhythmic syndromes. Frontiers in Genetics. LAUSANNE: FRONTIERS MEDIA SA, 2025, roč. 16, November 2025, s. 1-8. ISSN 1664-8021. Dostupné z: https://doi.org/10.3389/fgene.2025.1677311.

@article{2530378,
   author = {Hrazderova, Hana and Petrkova, Jana and Crhova, Anna and Herkommerova, Klara and Mahutova, Kvetoslava and Nejezchlebova, Julie and Petrkova, Lenka and Bouček, Luboš and Boday, Arpad and Tavandzis, Spiros},
   article_location = {LAUSANNE},
   article_number = {November 2025},
   doi = {https://doi.org/10.3389/fgene.2025.1677311},
   keywords = {segregation analysis; cardiomyopathies; arrhythmic syndromes; risk alleles; next-generation sequencing},
   language = {eng},
   issn = {1664-8021},
   journal = {Frontiers in Genetics},
   title = {Family-based NGS panel testing of cardiopathies and arrhythmic syndromes},
   url = {https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2025.1677311/full},
   volume = {16},
   year = {2025}
}

TY  - JOUR
ID  - 2530378
AU  - Hrazderova, Hana - Petrkova, Jana - Crhova, Anna - Herkommerova, Klara - Mahutova, Kvetoslava - Nejezchlebova, Julie - Petrkova, Lenka - Bouček, Luboš - Boday, Arpad - Tavandzis, Spiros
PY  - 2025
TI  - Family-based NGS panel testing of cardiopathies and arrhythmic syndromes
JF  - Frontiers in Genetics
VL  - 16
IS  - November 2025
SP  - 1-8
EP  - 1-8
PB  - FRONTIERS MEDIA SA
SN  - 16648021
KW  - segregation analysis
KW  - cardiomyopathies
KW  - arrhythmic syndromes
KW  - risk alleles
KW  - next-generation sequencing
UR  - https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2025.1677311/full
N2  - 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.
ER  -

HRAZDEROVA, Hana; Jana PETRKOVA; Anna CRHOVA; Klara HERKOMMEROVA; Kvetoslava MAHUTOVA; Julie NEJEZCHLEBOVA; Lenka PETRKOVA; Luboš BOUČEK; Arpad BODAY a Spiros TAVANDZIS. Family-based NGS panel testing of cardiopathies and arrhythmic syndromes. \textit{Frontiers in Genetics}. LAUSANNE: FRONTIERS MEDIA SA, 2025, roč.~16, November 2025, s.~1-8. ISSN~1664-8021. Dostupné z: https://doi.org/10.3389/fgene.2025.1677311.

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