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Cardiogenetics, Volume 13, Issue 4

2023 December - 4 articles

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Articles (4)

  • Review
  • Open Access
2 Citations
7,991 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

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...

(This article belongs to the Section Cardiovascular Genetics in Clinical Practice)
  • Case Report
  • Open Access
1 Citations
3,038 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...

(This article belongs to the Section Cardiovascular Genetics in Clinical Practice)
  • Case Report
  • Open Access
4,196 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
  • Jocelyn Inamo
  • + 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...

(This article belongs to the Section Rare Cardiovascular Disorders)
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Cardiogenetics - ISSN 2035-8148