Cardiogenetics MDPI

20/11/2025

Yuliya Paulenka et al. review the pathophysiology of thoracic aortic aneurysms along with the role of gender in aortic disease and discuss the most common genetic etiologies of thoracic aortic aneurysms.

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Thoracic aortic aneurysms (TAAs) are commonly seen in cardiovascular practice. Acquired and genetic conditions contribute to TAA formation. The natural history of genetically mediated TAA underscores the importance of early detection, regular monitoring, and prompt treatment to prevent complications...

19/11/2025

Cameron J. Leong et al. published this review summarizing the utility of gene therapy for the treatment of inherited arrhythmia syndromes.

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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 com...

13/11/2025

Sheefah Dhuny et al. summarize the genetics of hypertrophic cardiomyopathy, discussing the potential clinical mimics that occur concurrently with hypertrophic cardiomyopathy and chronic kidney disease.

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The links between chronic kidney disease (CKD) and cardiac conditions such as coronary heart disease or valvular disease are well established in the literature. However, the relationship between hypertrophic cardiomyopathy (HCM) and CKD is not as frequently described or researched. HCM is the most c...

12/11/2025

Joanna Popiolek-Kalisz et al. analyzed the available data regarding the dietary perspective of familial hypercholesterolemia management in this review.

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Introduction: Familial hypercholesterolemia (FH) is a genetic disorder that remains underdiagnosed and undertreated. It is characterized by high levels of low-density lipoprotein cholesterol (LDL-C), which leads to an increased cardiovascular disease risk. Pharmacotherapy of FH is based on high-dose...

06/11/2025

Gaetano Todde et al. discussed the mechanisms in, diagnosis of and therapeutic strategies for patients with obstructive hypertrophic cardiomyopathy in this Editor's Choice review paper.

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Left ventricular outflow obstruction (LVOTO) and diastolic dysfunction are the main pathophysiological characteristics of hypertrophic cardiomyopathy (HCM)LVOTO, may be identified in more than half of HCM patients and represents an important determinant of symptoms and a predictor of worse prognosis...

05/11/2025

Editors' Pick: A High-Value Publication!

Sarcomeric versus Non-Sarcomeric HCM, by Felice Borrelli et al.

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Hypertrophic cardiomyopathy (HCM) is the most common heritable cardiovascular disorder and is characterized by left ventricular hypertrophy (LVH), which is unexplained by abnormal loading conditions. HCM is inherited as an autosomal dominant trait and, in about 40% of patients, the causal mutation i...

04/11/2025

Martina Caiazza et al. describe a case in which the integration of genetic, clinical, and histopathological data allowed reclassification of a PRKAG2 variant from likely pathogenic to pathogenic in this new publication in Cardiogenetics.

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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-excitation, and conduction disease. Due to the rarity....

28/10/2025

Editors' Pick: A High-Value Publication!

Calcium Release Deficiency Syndrome (CRDS): Rethinking “Atypical” Catecholaminergic Polymorphic Ventricular Tachycardia, by Alessandra P. Porretta, et al.

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Since the first description of catecholaminergic polymorphic ventricular tachycardia (CPVT) in the 1970s, new insights have progressively unraveled the understanding of this inherited arrhythmia syndrome. The identification of new distinct clinical entities related to RYR2, the gene encoding the car...

27/10/2025

Editors' Pick: A High-Value Publication!

Exploring the Role of Genetics in Sarcoidosis and Its Impact on the Development of Cardiac Sarcoidosis, by Sanjay Sivalokanathan.

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Sarcoidosis is a multifaceted and multisystemic inflammatory disorder, the etiology of which remains unknown. However, it has been suggested that an intricate interplay between genetic, environmental, and inflammatory factors may contribute to the development and progression of sarcoidosis. Although...

24/10/2025

📢 Exciting News! We're thrilled to announce IOCGE 2026—the 3rd International Online Conference on Genes, set to take place virtually from 2 to 4 December 2026! Prof. Dr. Selvarangan Ponnazhagan from the University of Alabama at Birmingham will lead this exceptional gathering of scholars, researchers, and experts in genes, genetics and genomics.

📅 Online | 2–4 December, 2026

👉 Join us for insightful discussions on a wide range of topics:
S1. Non-coding RNAs in Health and Disease
S2. Advances in Diagnosis, Treatment, and Prevention of Genetic Disorders
S3. Microbial Genetics and Metagenomics
S4. Epigenetics and Chromatin Remodeling
S5. Cancer Genetics
S6. Applications of Machine Learning and Bioinformatics
S7. Population Genetics and Genetic Epidemiology
S8. Pharmacogenomics

🥇This is a golden opportunity to share your groundbreaking insights, latest research findings, and connect with like-minded scholars from across the globe!
🔗 Conference website: https://brnw.ch/21wWPPR
📝 Submit your abstracts here: https://brnw.ch/21wWPPQ
🥳 Remember to Register at: https://brnw.ch/21wWPPP

Cardiogenetics MDPI

22/10/2025

Editors' Pick: A High-Value Publication!

Anderson–Fabry Disease Homozygosity: Rare Case of Late-Onset Variant, by Gabriela Dostalova et al.

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Anderson–Fabry Disease (AFD) is a rare, X-linked lysosomal storage disorder caused by a mutation in the α-Galactosidase A gene resulting in α-Galactosidase A enzyme (α-Gal A) deficiency. The metabolic defect leads to the progressive accumulation of glycosphingolipids and the structural and func...

21/10/2025

Jil Delhez et al. explore how endurance training affects gene regulation, particularly miRNA expression and DNA methylation, in individuals with cardiovascular diseases in this systematic review.

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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 epigenetic regulation in exercise-induced cardiovascu...