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Cardiogenetics
Volume 14
Issue 3
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Cardiogenetics, Volume 14, Issue 3 (September 2024) – 3 articles

Cover Story (view full-size image): The “Iter diagnostico dei pazienti con sospetto di cardiomiopatie geneticamente determinate: ottimizzare tempi e risorse” (INDACO) study is a monocenter prospective study evaluating the workup of patients with cardiomyopathies and suspected of having a genetic etiology in the regional context of Piedmont (northern Italy). The study describes the results derived from the implementation of a more functional workup process, pursuing time and resource optimization through the creation of a specific pathway for patients with cardiomyopathies inside a “cardiogenetic clinic” in which cardiologists and medical geneticists work together. View this paper
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21 pages, 1600 KiB  
Review
Beyond the Beat: Understanding Inherited Risk and Therapeutic Opportunities in Cardiovascular Diseases with Emphasis on Inherited Cardiomyopathies and Inherited Arrhythmic Syndromes
by Antea Krsek, Lara Baticic and Vlatka Sotosek
Cardiogenetics 2024, 14(3), 149-169; https://doi.org/10.3390/cardiogenetics14030012 - 2 Sep 2024
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Abstract
Over the past three decades, significant progress has been made in elucidating the intricate connection between genetic predispositions and cardiovascular diseases (CVDs). Through extensive investigation, numerous genetic variants linked to various cardiovascular conditions have been discovered, shedding crucial light on the underlying biological [...] Read more.
Over the past three decades, significant progress has been made in elucidating the intricate connection between genetic predispositions and cardiovascular diseases (CVDs). Through extensive investigation, numerous genetic variants linked to various cardiovascular conditions have been discovered, shedding crucial light on the underlying biological mechanisms and pathways. These discoveries have not only revolutionized risk assessment for patients but have also paved the way for personalized treatment strategies, allowing healthcare providers to tailor interventions according to individual genetic profiles. Furthermore, genetic testing has facilitated cascade screening, enabling the early identification and intervention of potential cardiovascular issues among at-risk biological family members. This review aims to comprehensively summarize the current state of knowledge regarding inherited risk and novel insights from human genome and epigenome research, as well as therapeutic opportunities in CVDs with special emphasis on inherited cardiomyopathies and inherited arrhythmic syndromes. The newest translational trials for CVDs and pharmaceutical approaches are discussed, including gene therapy options for heart failure and cardiomyopathies. Full article
(This article belongs to the Section Cardiovascular Genetics in Clinical Practice)
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17 pages, 1594 KiB  
Review
Gene Therapy for Inherited Arrhythmia Syndromes
by Cameron J. Leong, Sohat Sharma, Jayant Seth, Archan Dave, Abdul Aziz Abdul Ghafoor and Zachary Laksman
Cardiogenetics 2024, 14(3), 132-148; https://doi.org/10.3390/cardiogenetics14030011 - 2 Aug 2024
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Abstract
The emergence of gene therapy offers opportunities for treating a myriad of genetic disorders and complex diseases that previously had limited or no treatment options. The key basic strategies for gene therapy involve either the addition, inhibition, or introduction of a new gene, [...] Read more.
The emergence of gene therapy offers opportunities for treating a myriad of genetic disorders and complex diseases that previously had limited or no treatment options. The key basic strategies for gene therapy involve either the addition, inhibition, or introduction of a new gene, with a crucial component being the use of a delivery vector to effectively target cells. Particularly promising is the application of gene therapy for the treatment of inherited arrhythmia syndromes, conditions associated with significant mortality and morbidity that have limited treatment options, and a paucity of disease modifying therapy. This review aims to summarize the utility of gene therapy for the treatment of inherited arrhythmia syndromes by exploring the current state of knowledge, limitations, and future directions. Full article
(This article belongs to the Special Issue Genetics of Inherited Arrhythmogenic Syndromes Associated with Sudden Death)
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10 pages, 1525 KiB  
Article
Genetic Testing for Patients with Cardiomyopathies: The INDACO Study—Towards a Cardiogenetic Clinic
by Matteo Bianco, Noemi Giordano, Valentina Gazzola, Carloalberto Biolè, Giulia Nangeroni, Maurizio Lazzero, Giulia Margherita Brach del Prever, Fiorenza Mioli, Giulia Gobello, Amir Hassan Mousavi, Monica Guidante, Silvia Deaglio, Daniela Francesca Giachino and Alessandra Chinaglia
Cardiogenetics 2024, 14(3), 122-131; https://doi.org/10.3390/cardiogenetics14030010 - 22 Jul 2024
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Abstract
Cardiomyopathies have evolved from being considered rare and idiopathic to being increasingly linked to genetic factors. This shift was enabled by advancements in understanding genetic variants and the widespread use of next generation sequencing (NGS). Current guidelines emphasize the importance of evidence-based gene [...] Read more.
Cardiomyopathies have evolved from being considered rare and idiopathic to being increasingly linked to genetic factors. This shift was enabled by advancements in understanding genetic variants and the widespread use of next generation sequencing (NGS). Current guidelines emphasize the importance of evidence-based gene panels that can offer “clinically actionable results”, which provide diagnostic and prognostic insights. They also advise against indiscriminate family screening after finding variants of uncertain significance (VUS) and recommend collaboration among multidisciplinary teams for an accurate variant pathogenicity assessment. This article presents an innovative “cardiogenetic clinic” approach involving cardiologists and medical geneticists to provide genetic testing and family screening. This study attempts to improve the diagnostic process for suspected genetic cardiomyopathies; this includes direct patient recruitment during cardiology appointments, NGS analysis, and combined consultations with cardiologists and geneticists to assess the results and screen the families. The study cohort of 170 patients underwent genetic testing, which identified 78 gene variants. Positive results (C4 or C5 variants) occurred in 20 (19.8%) cases, with rates varying by cardiomyopathy phenotype, while 57 (73.1%) of the variants found were classified as C3-VUS, causing a significant management issue. This model shortened the time to results, increased patient adherence, and improved patients’ diagnoses. Family screening was pondered depending on the relevance of the detected variants, showing this method’s potential to impact patient management. Full article
(This article belongs to the Section Cardiovascular Genetics in Clinical Practice)
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