Hereditary Thoracic Aortic Diseases

Diagnostics (Basel). 2024 Jan 4;14(1):112. doi: 10.3390/diagnostics14010112.

Abstract

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.

Keywords: aortic dilation; genetics; hereditary aortopathies; multimodality imaging; thoracic aortic disease.

Publication types

  • Review

Grants and funding

This research received no external funding.