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Cardiogenetics, Volume 15, Issue 3

September 2025 - 8 articles

Cover Story: Misdiagnoses and diagnostic delays frequently occur in Fabry disease and one of the main reasons is the lack of disease awareness among clinicians facing these patients. This rare disease commonly involves the heart with the development of progressive left ventricular hypertrophy; thus, cardiologists may have a central role in the diagnostic pathway. In this multicentric study, we demonstrated that providing a targeted educational intervention to unexperienced cardiologists may significantly enhance the diagnostic rate of Fabry disease and consequently reduce the therapeutic delay for these patients. View this paper
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Articles (8)

  • Review
  • Open Access
665 Views
11 Pages
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Ethical Considerations Regarding Advanced Heart Failure Therapies in Patients Affected by Dystrophinopathies

  • Marco Spagnolin,
  • Luca Fazzini,
  • Amedeo Terzi,
  • Attilio Iacovoni,
  • Raffaele Abete,
  • Ottavio Zucchetti,
  • Michele Senni and
  • Mauro Gori
Cardiogenetics2025, 15(3), 26;https://doi.org/10.3390/cardiogenetics15030026

22 September 2025

Dystrophinopathies, including Duchenne and Becker muscular dystrophies (DMD and BMD), are inherited neuromuscular disorders frequently complicated by progressive cardiac involvement, ultimately leading to advanced heart failure. While heart transplan...

Full Article
  • Article
  • Open Access
1,207 Views
17 Pages
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Genetic Profile of Pediatric-Onset Cardiac Channelopathies

  • Sara Giovani,
  • Adelaide Ballerini,
  • Alessia Gozzini,
  • Michele Di Lorenzo,
  • Davide Mei,
  • Silvia Passantino,
  • Mattia Zampieri,
  • Alessia Tomberli,
  • Alberto Marchi and
  • Giovanni Battista Calabri
  • + 6 authors
Cardiogenetics2025, 15(3), 25;https://doi.org/10.3390/cardiogenetics15030025

12 September 2025

This study investigates the genetic background of pediatric-onset cardiac channelopathies, a rare group of genetic disorders causing arrhythmias and sometimes sudden death, whose genetic background remains partially unknown. The research analyzed 59...

Full Article
  • Case Report
  • Open Access
1,686 Views
7 Pages
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TNNC1 Gene Mutation in Ebstein’s Anomaly and Left Ventricular Hypertrabeculation: A Case Report of a New Causative Mutation?

  • Irene Raso,
  • Claudia Chillemi,
  • Giorgia Prontera,
  • Arianna Laoreti,
  • Elisa Cattaneo,
  • Valeria Calcaterra,
  • Gian Vincenzo Zuccotti and
  • Savina Mannarino
Cardiogenetics2025, 15(3), 24;https://doi.org/10.3390/cardiogenetics15030024

26 August 2025

Background: Ebstein’s anomaly (EA) is a rare congenital heart defect characterized by failure of tricuspid valve delamination during embryogenesis. Left ventricular (LV) hypertrabeculation results from incomplete myocardial compaction during fe...

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  • Article
  • Open Access
1,037 Views
13 Pages
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Association Between Angiotensinogen Gene M235T and Renin–Angiotensin System Insertion/Deletion Variants and Risk of Cardiovascular Disease in North African and Middle Eastern Populations: A Systematic Review and Meta-Analysis

  • Rajaa El Mansouri,
  • Hind Dehbi and
  • Rachida Habbal
Cardiogenetics2025, 15(3), 23;https://doi.org/10.3390/cardiogenetics15030023

8 August 2025

Background: The renin–angiotensin system (RAS) is pivotal in regulating cardiovascular function, while cardio-genomics offers insights into genetic factors influencing cardiovascular disease (CVD) susceptibility. Aim: This study investigates th...

Full Article
  • Review
  • Open Access
1 Citations
2,358 Views
24 Pages
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Desmosomal Versus Non-Desmosomal Arrhythmogenic Cardiomyopathies: A State-of-the-Art Review

  • Kristian Galanti,
  • Lorena Iezzi,
  • Maria Luana Rizzuto,
  • Daniele Falco,
  • Giada Negri,
  • Hoang Nhat Pham,
  • Davide Mansour,
  • Roberta Giansante,
  • Liborio Stuppia and
  • Lorenzo Mazzocchetti
  • + 5 authors
Cardiogenetics2025, 15(3), 22;https://doi.org/10.3390/cardiogenetics15030022

1 August 2025

Arrhythmogenic cardiomyopathies (ACMs) are a phenotypically and etiologically heterogeneous group of myocardial disorders characterized by fibrotic or fibro-fatty replacement of ventricular myocardium, electrical instability, and an elevated risk of...

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  • Feature Paper
  • Article
  • Open Access
1,117 Views
11 Pages
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How to Enhance Diagnosis in Fabry Disease: The Power of Information

  • Maria Chiara Meucci,
  • Rosa Lillo,
  • Margherita Calcagnino,
  • Giampaolo Tocci,
  • Eustachio Agricola,
  • Federico Biondi,
  • Claudio Di Brango,
  • Vincenzo Guido,
  • Valentina Parisi and
  • Francesca Giordana
  • + 14 authors
Cardiogenetics2025, 15(3), 21;https://doi.org/10.3390/cardiogenetics15030021

31 July 2025

Background: Cardiac involvement is common in Fabry disease (FD) and typically manifests with left ventricular hypertrophy (LVH). Patients with FD are frequently misdiagnosed, and this is mainly related to the lack of disease awareness among clinician...

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  • Review
  • Open Access
806 Views
15 Pages
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Dilated Cardiomyopathy and Sensorimotor Polyneuropathy Associated with a Homozygous ELAC2 Variant: A Case Report and Literature Review

  • Francesco Ravera,
  • Filippo Angelini,
  • Pier Paolo Bocchino,
  • Gianluca Marcelli,
  • Giulia Gobello,
  • Giuseppe Giannino,
  • Guglielmo Merlino,
  • Benedetta De Guidi,
  • Andrea Destefanis and
  • Giulia Margherita Brach Del Prever
  • + 8 authors
Cardiogenetics2025, 15(3), 20;https://doi.org/10.3390/cardiogenetics15030020

31 July 2025

Variants in ELAC2, a gene encoding the mitochondrial RNase Z enzyme essential for mitochondrial tRNA processing, have been associated with severe pediatric-onset mitochondrial dysfunction, primarily presenting with developmental delay, hypertrophic c...

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  • Article
  • Open Access
860 Views
33 Pages
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Integrated Deep Learning Framework for Cardiac Risk Stratification and Complication Analysis in Leigh’s Disease

  • Md Aminul Islam,
  • Jayasree Varadarajan,
  • Md Abu Sufian,
  • Bhupesh Kumar Mishra and
  • Md Ruhul Amin Rasel
Cardiogenetics2025, 15(3), 19;https://doi.org/10.3390/cardiogenetics15030019

15 July 2025

Background: Leigh’s Disease is a rare mitochondrial disorder primarily affecting the central nervous system, with frequent secondary cardiac manifestations such as hypertrophic and dilated cardiomyopathies. Early detection of cardiac complicati...

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Cardiogenetics - ISSN 2035-8148
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