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

Hereditary Thoracic Aortic Diseases

Gaia Spaziani  1 , Francesca Chiara Surace  2 , Francesca Girolami  1 , Francesco Bianco  2 , Valentina Bucciarelli  2 , Francesca Bonanni  3 , Elena Bennati  1 , Luigi Arcieri  2 , Silvia Favilli  1
Affiliations
Review

Hereditary Thoracic Aortic Diseases

Gaia Spaziani et al. Diagnostics (Basel). .

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.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
Phenotypes of the most common genetic syndromes associated with aortic dilation. (Panel A): Marfan syndrome characterized by long bone overgrowth, arachnodactyly scoliosis, pectus deformities, and tall stature. (Panel B): Turner syndrome characterized by short stature, webbed neck, broad chest and widely spaced nipples, and low hairline. (Panel C): Loyes–Dietz syndrome characterized by hypertelorism, scoliosis, bifid uvula, club feet, loose joints, and longer fingers. (Panel D): Vascular Ehlers–Danlos syndrome characterized by small joint hypermobility and thin, translucent skin.
Figure 2
Figure 2
Echocardiographic images of a one-year-old boy with suspected LDS/MS presenting with an isolated dilatation of the ascending aorta. Subcostal view of the aorta (Panel A); parasternal long axis view (Panel B). Legend: left ventricle (Lv); right ventricle (Rv); aorta (Ao); left atrium (La).
Figure 3
Figure 3
CCT images of four-year-old girl with MS that underwent previous aortic valve replacement due to severe aortic regurgitation. Coronal section (Panel A); sagittal section (Panel B); axial section (Panel C). The asterisk indicates the dilated ascending aorta. Legend: aorta (Ao); pulmonary artery (Plm).
Figure 4
Figure 4
CMR imaging of a 30-years old woman with MS presenting with an acute aortic dissection diagnosed during a routine exam. Angio-MRI with post contrast-enhanced sequence (Panel A); cine-SSFP sagittal and axial images (Panels B,D); T1-weighted axial images (Panel C). The asterisks indicate the true lumen and the arrows the false lumen. Legends: aorta (Ao); steady-state free precession (SSFP).
See this image and copyright information in PMC

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