- Editorial
1 Citations
1,977 Views
2 Pages
Inherited Arrhythmogenic Syndromes
- Georgia Sarquella-Brugada and
- Oscar Campuzano
Inherited arrhythmogenic syndromes (IASs) are a heterogeneous group of rare cardiac entities of genetic origin [...]
- 0.9Impact Factor
- 1.4CiteScore
- 33 daysTime to First Decision
Cardiogenetics, Volume 13, Issue 4
December 2023 - 4 articles
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Articles (4)
- Review
2 Citations
6,087 Views
19 Pages
From Natural History to Contemporary Management of Aortic Diseases: A State-of-the-Art Review of Thoracic Aortic Aneurysm
- Yuliya Paulenka,
- Christopher Lee,
- Mays Tawayha,
- Sam Dow,
- Kajal Shah,
- Stanislav Henkin and
- Wassim Mosleh
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29 November 2023
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 monitor...
- Case Report
1 Citations
2,540 Views
9 Pages
Sudden Cardiac Death in Biventricular Arrhythmogenic Cardiomyopathy: A New Undescribed Variant of the MYH6 Gene
- Pedro Garcia Brás,
- Isabel Cardoso,
- José Viegas,
- Diana Antunes and
- Sílvia Aguiar Rosa
Arrhythmogenic cardiomyopathy (ACM) may present with sudden cardiac arrest (SCA), and demonstration of a pathogenic variant in ACM-related genes is crucial for its definitive diagnosis. A 42-year-old female patient with family history of sudden cardi...
- Case Report
2,974 Views
10 Pages
A Family with a Single LMNA Mutation Illustrates Diversity in Cardiac Phenotypes Associated with Laminopathic Progeroid Syndromes
- Anna-Gaëlle Giguet-Valard,
- Astrid Monfort,
- Hugues Lucron,
- Helena Mosbah,
- Franck Boccara,
- Camille Vatier,
- Corinne Vigouroux,
- Pascale Richard,
- Karim Wahbi and
- Remi Bellance
- + 2 authors
-
26 September 2023
The likely pathogenic variant c.407A>T p.Asp136Val of the LMNA gene has been recently described in a young woman presenting with atypical progeroid syndrome, associated with severe aortic valve stenosis. We further describe the cardiovascular invo...
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Cardiogenetics - ISSN 2035-8148