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Cardiogenetics, Volume 14, Issue 1

2024 March - 4 articles

Cover Story: Background: Pompe disease is a rare, severe, autosomal recessive genetic disorder caused by GAA gene mutations, which cause α-1,4-glucosidase enzyme deficiency. There are two forms of Pompe disease based on the age of onset and the infantile and adult form (LOPD). Cardiac involvement, previously recognized only in infantile cases, is now also reported in adults. Cardiomyopathy remains an exceptional finding, while heart rhythm disorders appear to be more frequent. Methods: We retrospectively evaluated cardiac involvement in 12 patients with late-onset Pompe disease (LOPD) followed for an overall period of 143 years (mean 12.7 ± 7.7) using ECG, Holter ECG, and echocardiography. View this paper

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Perspective

3,255 Views

9 Pages

COVID-19 and the Heart: Lessons Learned and Future Research Directions

Tetz Cheng-Che Lee,
Alaa Mabrouk Salem Omar and
Jonathan N. Bella

Cardiogenetics2024, 14(1), 51-58;https://doi.org/10.3390/cardiogenetics14010004

19 March 2024

It has become evident that acute COVID-19 infection can lead to cardiovascular complications. While the exact mechanisms by which COVID-19 affects the cardiovascular system have yet to be fully elucidated, several mechanisms have been proposed, inclu...

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Feature Paper
Article

4,691 Views

13 Pages

Risk of Cardiac Arrhythmias in Patients with Late-Onset Pompe Disease—Results from a Long Follow-Up in a Group of 12 Patients and Review of Literature

Alberto Palladino,
Luigia Passamano,
Marianna Scutifero,
Salvatore Morra,
Esther Picillo,
Andrea Antonio Papa,
Gerardo Nigro and
Luisa Politano

Cardiogenetics2024, 14(1), 38-50;https://doi.org/10.3390/cardiogenetics14010003

12 February 2024

Background. Pompe disease is a rare, severe, autosomal recessive genetic disorder caused by GAA gene mutations, which cause α-1,4-glucosidase enzyme deficiency. There are two forms of Pompe disease based on the age of onset, the infantile and t...

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Review

2 Citations

7,550 Views

12 Pages

Hypertrophic Cardiomyopathy and Chronic Kidney Disease: An Updated Review

Sheefah Dhuny,
Henry H. L. Wu,
Manova David and
Rajkumar Chinnadurai

Cardiogenetics2024, 14(1), 26-37;https://doi.org/10.3390/cardiogenetics14010002

12 January 2024

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 fre...

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Article

1 Citations

3,132 Views

25 Pages

Gene-Specific Discriminative Echocardiogram Findings in Hypertrophic Cardiomyopathy Determined Using Artificial Intelligence: A Pilot Study

Mila Glavaški,
Aleksandra Ilić and
Lazar Velicki

Cardiogenetics2024, 14(1), 1-25;https://doi.org/10.3390/cardiogenetics14010001

25 December 2023

Hypertrophic cardiomyopathy (HCM) is among the most common forms of cardiomyopathies, with a prevalence of 1:200 to 1:500 people. HCM is caused by variants in genes encoding cardiac sarcomeric proteins, of which a majority reside in MYH7, MYBPC3, and...

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