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Cardiogenetics, Volume 15, Issue 4

December 2025 - 6 articles

Cover Story: Clinical variability within families harboring disease-causing genetic variants hamper clinical care and risk stratification. We studied a family with sinus bradycardia and long QT syndrome type 2 (LQTS2). The family harbored a variant in KCNH2, which co-segregated with the LQTS2. While sinus bradycardia has been reported in some LQTS subtypes, its association with LQTS2 is limited. Thorough analysis revealed that the sinus bradycardia and more severe LQTS2 were limited to one side of the family. We hypothesized that this family harbored a second genetic variant. This resulted in further genetic assessment and functional assessment of the identified variants. This study highlights the importance of additional genetic testing when discordant features are present, thereby enabling more accurate diagnosis, risk prediction, and management. View this paper

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Articles (6)

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Review

542 Views

18 Pages

The Hidden Face of Danon Disease: Unique Challenges for Female Patients

Laura Torlai Triglia,
Federico Barocelli,
Enrico Ambrosini,
Alberto Bettella,
Filippo Luca Gurgoglione,
Michele Bianconcini,
Angela Guidorossi,
Francesca Russo,
Antonio Percesepe and
Giampaolo Niccoli

Cardiogenetics2025, 15(4), 32;https://doi.org/10.3390/cardiogenetics15040032

4 December 2025

Danon Disease (DD) is a rare X-linked autophagic vacuolar myopathy caused by pathogenic variants in the lysosome-associated membrane protein 2 (LAMP-2) gene. Alternative splicing of the terminal exon 9 leads to the creation of three different isoform...

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Article

560 Views

15 Pages

Sinus Bradycardia and Long QT Syndrome: Double Heterozygosity for Variants in KCNH2 and HCN4

Jaël S. Copier,
Fenna Tuijnenburg,
Karolina Andrzejczyk,
Alex V. Postma,
Saskia N. van der Crabben,
Oussama Najih,
Caroline Pham,
Leander Beekman,
Arie O. Verkerk and
Ahmad S. Amin
+ 1 author

Cardiogenetics2025, 15(4), 31;https://doi.org/10.3390/cardiogenetics15040031

13 November 2025

Introduction: Clinical variability within families harbouring disease-causing genetic variants hampers clinical care and risk stratification. We studied a multigenerational family presenting with sinus bradycardia and long QT syndrome type 2 (LQTS2)....

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Case Report

889 Views

6 Pages

Integrating Genetic, Clinical, and Histopathological Data for Definitive Diagnosis of PRKAG2-Related Disease

Martina Caiazza,
Emanuele Monda,
Francesco Loffredo,
Rossana Bussani,
Vera Fico,
Emanuele Bobbio,
Chiara Cirillo,
Anna Murredda,
Immacolata Viscovo and
Alessandra Scatteia
+ 7 authors

Cardiogenetics2025, 15(4), 30;https://doi.org/10.3390/cardiogenetics15040030

4 November 2025

Background: PRKAG2-related disease is an autosomal dominant disorder caused by pathogenic variants in the PRKAG2 gene, leading to glycogen accumulation in cardiomyocytes. It is characterized by left ventricular hypertrophy (LVH), ventricular pre-exci...

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Systematic Review

1,470 Views

18 Pages

MicroRNA and DNA Methylation Adaptation Mechanism to Endurance Training in Cardiovascular Disease: A Systematic Review

Jil Delhez,
Jeanne Ougier,
Francisco Xavier de Araujo,
Raphael Martins de Abreu and
Camilo Corbellini

Cardiogenetics2025, 15(4), 28;https://doi.org/10.3390/cardiogenetics15040028

11 October 2025

Background: Regular endurance training induces physiological changes in cardiac structure and function. The precise epigenetic mechanisms by which cardiovascular adaptations are mediated are still unclear. This review seeks to clarify the role of epi...

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Review

1,605 Views

23 Pages

From Genetics to Phenotype: Understanding the Diverse Manifestations of Cardiovascular Genetic Diseases in Pediatric Populations

Jule Leonie Gutmann,
Alina Spister and
Lara Baticic

Cardiogenetics2025, 15(4), 29;https://doi.org/10.3390/cardiogenetics15040029

11 October 2025

Congenital genetic heart defects are major contributors to pediatric morbidity and mortality, underscoring the importance of early detection and individualized therapeutic strategies. This review aimed to summarize current knowledge on a spectrum of...

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Review

3,814 Views

10 Pages

Polygenic Risk Scores and Coronary Artery Disease

Salman Ansari,
Suvasini Lakshmanan and
Matthew J. Budoff

Cardiogenetics2025, 15(4), 27;https://doi.org/10.3390/cardiogenetics15040027

26 September 2025

Background: Polygenic risk scores (PRSs) aggregate the effects of many common genetic variants and are being investigated as tools to refine coronary artery disease (CAD) risk prediction beyond traditional clinical models. Methods and Results: We rev...

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