Diagnostics (Jan 2024)

Hereditary Thoracic Aortic Diseases

  • Gaia Spaziani,
  • Francesca Chiara Surace,
  • Francesca Girolami,
  • Francesco Bianco,
  • Valentina Bucciarelli,
  • Francesca Bonanni,
  • Elena Bennati,
  • Luigi Arcieri,
  • Silvia Favilli

DOI
https://doi.org/10.3390/diagnostics14010112
Journal volume & issue
Vol. 14, no. 1
p. 112

Abstract

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Advances in both imaging techniques and genetics have led to the recognition of a wide variety of aortic anomalies that can be grouped under the term ‘hereditary thoracic aortic diseases’. The present review aims to summarize this very heterogeneous population’s clinical, genetic, and imaging characteristics and to discuss the implications of the diagnosis for clinical counselling (on sports activity or pregnancy), medical therapies and surgical management.

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